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Konten disediakan oleh RARECast. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh RARECast atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang diuraikan di sini https://id.player.fm/legal.
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<div class="span index">1</div> <span><a class="" data-remote="true" data-type="html" href="/series/we-have-the-receipts">We Have The Receipts</a></span>
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Hosted by Chris Burns, We Have The Receipts is a bi-weekly all-access deep dive into Netflix Unscripted Reality! Each episode will bring you closer to the people behind the reality, with the free-flowing depth of podcast conversations and viral elements of TV’s best talk shows. We Have The Receipts is an upbeat, fan-first destination to uncover more insider secrets, more expert hot takes, and more off-the-rails drama from their favorite Netflix reality stars.
RARECast
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Konten disediakan oleh RARECast. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh RARECast atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang diuraikan di sini https://id.player.fm/legal.
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
531 episode
Tandai semua (belum/sudah) diputar ...
Manage series 60790
Konten disediakan oleh RARECast. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh RARECast atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang diuraikan di sini https://id.player.fm/legal.
RARECast is a Global Genes podcast hosted by award-winning journalist Daniel Levine. It focuses on the intersection of rare disease with business, science, and policy.
531 episode
Semua episode
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1 Addressing the Disease Mechanism of a Rare Kidney Disease 25:52
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IgA nephropathy is a rare autoimmune kidney disease that can lead to the loss of kidney function. Though a number of treatment options exist today, none address the root cause of the disease and instead seek to manage symptoms, slow progression, or prevent complications. Vera Therapeutics’ experimental fusion protein atacicept, in a phase 2B study, showed the ability to provide long-term kidney function stabilization. We spoke to Marshall Fordyce, founder and CEO of Vera Therapeutics, about IgA nephropathy, atacicept, and its potential in other B cell-mediated diseases.…
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1 The Mother of a Son with SCD, Applies Direct Experience to Her Clinical Trials Work 38:42
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When Katrina Rice’s son was diagnosed with the rare, hematological disorder sickle cell disease, she got to spend a lot of time understanding how a rare disease affects the daily life of people with a condition and their caregivers. Her son, now 28, has become a participant in clinical trials, and that’s further broadened Rice’s perspective as chief delivery officer of biometrics services at the clinical trial data management and analytics company eClinical Solutions. We spoke to Rice about sickle cell disease, how her experience as a mother of a child with a rare disease has informed her professional life, and how she has used that to educate her colleagues and clinical trial sponsors about how to better engage with rare disease clinical trial participants.…
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1 A First for Rett Syndrome with More in the Pipeline 23:07
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In 2023, Acadia Pharmaceuticals won approval for Daybue, the first and only treatment for the rare, neurodevelopmental disorder Rett syndrome. Daybue is not a cure and Acadia continues to pursue additional therapies for the condition including an antisense oligonucleotide therapy to upregulate a protein people with Rett syndrome lack. We spoke to Elizabeth Thompson, executive vice president and head of research and development for Acadia, about Rett syndrome, how Daybue has changed the treatment landscape for people with the condition, and the company’s advancing pipeline to treat it.…
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1 A Heart Attack that Led to a Rare Disease Diagnosis 30:13
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When Patty Keating had her thyroid removed, she experienced what she described as a “buzzing in her face,” had trouble sleeping, and felt anxious. Her symptoms grew worse and she had trouble climbing stairs. Then, six months later, her heart started racing, and her husband rushed her to the hospital, where tests showed she was having a heart attack. But when doctors performed catheterization to clear a blockage, they found there was none. It was then that she was diagnosed with hypoparathyroidism. Hypoparathyroidism is often underdiagnosed and undertreated rare condition. While it can have a genetic cause, it can also result from surgery or injuries to the neck that damage the parathyroid glands. These glands are a group of four, pea-sized objects at the back of the thyroid that create a hormone that plays an essential role in regulating blood calcium levels. The absence or damage of these glands can cause a wide range of health problems. We spoke to Keating, executive director of the HypoPARAthyroidism Association, about her experience with the condition, why it can be challenging to diagnose, and the changing treatment landscape.…
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1 Targeting Rare Liver Diseases with Gene Editing Therapies 23:33
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Earlier this year iECURE reported that an infant with the rare and deadly liver disease OTC deficiency had a complete response to its experimental gene editing therapy. It is believed to be the time that an infant was treated with an in vivo , liver-directed gene editor. The treatment restored ammonia levels in the child’s blood to normal and the child is off of ammonia scavenger medicines and is eating a normal diet. We spoke to Joe Truitt, CEO of iECURE, about the company’s experimental therapy for OTC, how it works, and its approach to in vivo gene editors.…
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1 Using AI to De-Risk Rare Disease Drug Development 43:37
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Healx, which developed an AI platform to repurpose drugs for rare diseases, is among the first generation of companies built on an AI drug discovery engine. The company’s lead experimental therapy, which the U.S. Food and Drug Administration granted Fast Track designation to in October 2024, is in mid-stage development for neurofibromatosis type 1, a rare genetic condition that causes tumors to grow on nerves. A deal at the end of 2024 shows expanded uses for its platform technology as Sanofi entered into an agreement to see if the company could find new indications for a late-stage asset that it had discontinued. We spoke to Tim Guilliams, co-founder and CEO of Healx, about the origin of the company, its lead asset in development for neurofibromatosis type 1, and how he views the company’s progress to date.…
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1 Addressing a Growing Demand for Plasma-Derived Therapies 30:39
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Primary immunodeficiency disorders include more than 400 conditions, and a growing number of people are being recognized as having them as a result of improved diagnostic tools and greater awareness among physicians. Most treatments for these conditions are plasma-derived therapies sourced from donors. We spoke to Joerg Schuettrumpf, chief scientific innovation officer at Grifols, about the changing landscape for these conditions, the challenges of ensuring a reliable supply of plasma-derived therapies, and how treatment options may evolve.…
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1 Empowering Patients with Data to Drive Drug Development 43:19
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In November, Citizen Health unveiled itself with $14.5 million in funding and a partnership with the Chan Zuckerberg Initiative. A reinvention of what began life as Ciitizen, Citizen Health takes a sharp focus on rare disease, a departure from its precursor, which was initially envisioned as a tool for cancer patients to gather all of their health data in a single place. We spoke to Citizen Health Co-Founders Farid Vij and Nasha Fitter about the evolution of Citizen Health, what it will enable, and how it is helping shift power towards patients and their caregivers in the pursuit of new therapies.…
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1 How Advocates Are Advancing a Treatment for an Ultra-Rare Disease 27:06
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Michelle Teng, a techbio entrepreneur, co-founded the H-ABC Foundation after her daughter was diagnosed with the ultra-rare and fatal leukodystrophy. The foundation funded research that identified the causal mutation of the condition and pointed the way to a potential therapy. Teng later joined with Dan Williams to co-found SynaptixBio to advance that work and develop an experimental antisense oligonucleotide therapy to silence the mutated gene underlying a form of the progressive neurological condition. We spoke to Williams, co-founder and CEO of SynaptixBio, about H-ABC, how the company’s experimental therapy works, and the role patient advocates have played in the company’s efforts to advance its experimental therapy.…
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1 Engineering B Cells to Produce Therapeutic Proteins 31:53
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Gene therapies that use viral vectors generally are not redosable because once patients are exposed to the virus used to insert the gene, their immune system will become activated against them. Immusoft is using a patient’s own B cell and engineering them to produce needed proteins by transforming them into biofactories without the use of a viral vector. The company’s lead experimental therapy is an autologous B cell therapy engineered to produce the enzyme that people with the rare lysosomal storage disorder MPS I are deficient. We spoke to Sean Ainsworth, CEO of Immusoft, about MPS I, the limits of existing enzyme replacement therapies, and the potential benefits of using engineered B cells to treat people with the metabolic disorder and other conditions.…
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1 A Pipeline Win as BridgeBio Learns to Balance Theory with Practice 28:15
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BridgeBio has been an innovator in applying portfolio theory to its business model as a way to broaden access to capital. The company recently had a big win with its approval for Attruby, its treatment for the rare condition transthyretin amyloidosis cardiomyopathy. The approval is a boost for the company, which, like many biotechs, had to scale back on programs in the face of the downturn in capital markets in recent years. We spoke to Neil Kumar, co-founder and CEO of BridgeBio, about the approval of Attruby, the company’s late-stage pipeline, and what he’s learned about its business model in the process.…
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1 Considering What It Will Take for Payers to Embrace Advances in Sequencing 36:05
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The Genomic Answers for Kids program at Children's Mercy Kansas City has increased access to cutting-edge genomic sequencing for children suspected of having rare genetic diseases and improved the diagnostic yield of these tests. The program has collected samples from 8,000 rare disease patients and their family members and diagnosed about 2,000 people to date. Nevertheless, payers have been reluctant to increase reimbursement rates for more comprehensive genomic testing, posing a challenge to its sustained and expanded use for children who can benefit from it. We spoke to Tomi Pastinen, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City, about the success of the program to date, the reimbursement challenges, and the future of the technology.…
Anthony Monaco takes part in weightlifting and crossfit competitions, but that came only after he was diagnosed at the age of 19 with the rare, neuromuscular condition Friedreich’s ataxia. As the condition progressed, he had to give up on his plans of becoming at tattoo artist. Once he became reliant on a wheelchair, he began to withdraw from the world, not wanting people to see his disability on full display. That changed when he went with a friend on an extended cross-country trip that provided him with a new outlook on life. We spoke to Monaco about coming to terms with his diagnosis, how he was forced to abandon some dreams, and how he was able to find new ones to pursue.…
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1 A Non-Profit Works to Advance a DMD Gene Therapy 35:17
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Genethon, the non-profit gene therapy developer created by the patient association AFM-Telethon, began working with Sarepta Therapeutics in 2017 to develop a gene therapy for the rare neuromuscular condition Duchenne muscular dystrophy. Now that Sarepta has won approval for a separate gene therapy to treat the condition, Genethon is advancing development of its experimental gene therapy on its own. We spoke to Frederic Revah, CEO of Genethon, about Duchenne, the organization’s efforts to complete clinical development of its gene therapy for the condition, and how it might commercialize the treatment.…
In “More than We Expected: Five Years with a Remarkable Child,” James Robinson recounts the life and death of his son Nadav, who was born with a congenital heart condition. The book follows the family’s efforts to address and manage Nadav’s rare condition. As tragic as losing a child is, Robinson says his book is not a sad story. In fact, the book is filled with Robinson’s encounters with the wonders of parenthood, human kindness, and unexpected connections. We spoke to Robinson about his experience as the father of a child with a rare disease, life in hospital wards across two continents, and the feeling of pride in his son that remains.…
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1 A Gene Therapy Company Born from a Father’s Efforts to Save his Daughter 49:03
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Noam Baumatz entered the world of gene therapy as a father in pursuit of a life-savings treatment for his daughter Noga, who was born with an ultra-rare immunodeficiency. Though she died before a treatment could be developed, Baumatz launched Noga Therapeutics to try to help others in the rare disease community. The company’s platform technology uses lentiviral-based vectors to genetically reprogram blood stem cells. It is developing therapies for both rare and common diseases. We spoke to Baumatz about his experience with his daughter, the vision for Noga Therapeutics, and the company’s business decision to pursue both rare and common diseases.…
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1 Lowering Barriers to Clinical Trial Participation with Do-It-Yourself Blood Sample Collection 26:54
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1 Scaling N-of-1 Therapies to Viability 31:32
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The work of Boston Children’s Hospital’s Timothy Yu to develop a customized antisense oligonucleotide to treat Mila, a child with an ultra-rare neurodegenerative disease, created much excitement for the potential of N-of-1 therapies. Julia Vitarello, Mila’s mother, has talked about going from Mila to millions and co-founded EveryONE Medicines to enable the development of individualized therapies on a large scale. Earlier this year the company named industry veteran Kent Rogers as its CEO. We spoke to Rogers about the challenges of building a sustainable business model for the development of individualized therapies, the regulatory hurdles it may face, and what it will take to get payers to embrace such medicines.…
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1 Building Gene Therapies that Address Gain and Loss of Function Simultaneously 40:08
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For some genetic diseases, there is not only the need to replace the function of a gene that is lost, but to also address toxicities that a mutated gene may cause. There is currently no available treatment targeting diseases that result from both loss and gain of function mutations. NGGT uses dual-functional vectors to simultaneously remove harmful, mutated genes and replace them with normal, healthy genes to restore cellular function. We spoke to Guang Qu, chief operating officer and co-founder of NGGT, about the company’s approach to gene therapies, how it is leveraging its platform technologies to cost-effectively accelerate development of these therapies, and the pipeline it is building.…
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1 How One Woman Climbed from Patient to Advocate 31:30
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Allison Freedman was an avid hiker, mother of young twins, and had just completed an MBA when she began suffering from severe back and rib pain and overwhelming fatigue. Repeated visits to the doctor and medical testing left her without a diagnosis. As her pain worsened, imaging revealed she had multiple broken ribs and vertebrae. At 42, a bone marrow biopsy confirmed that she had the blood cancer multiple myeloma. Freedman underwent intensive treatment including chemotherapy and a stem cell transplant. At one point she became bedridden. Though she went into remission, she had been unable to live the active lifestyle she previously enjoyed and took to physical therapy to build back her strength and regain her abilities. At 50, she managed to climb Mount Kilimanjaro in Tanzania and now mentors others with multiple myeloma. We spoke to Freedman about her journey through diagnosis and treatment, her recovery, and why she went from not wanting to talk about her condition to being a patient advocate.…
Despite advancements in genetic testing, people with rare diseases often face a prolonged diagnostic odyssey involving multiple physician visits and misdiagnoses. Genetic testing company GeneDX is working to shorten the path to a diagnosis by expanding access to sequencing, collaborating with researchers, and accumulating data to better understand gene-disease relationships. We spoke to Katherine Stueland, CEO of GeneDx, about the state of genetic testing, what its 2022 acquisition by the AI-drive genomics company SEMA4 has meant to it, and what she thinks it will take to make meaningful change to the diagnostic odyssey.…
Standard exome sequencing, which maps the protein coding regions of the genome, will deliver a diagnosis of someone with a rare disease in about 35 percent of cases. Ambry Genetics' ExomeReveal seeks to improve the diagnostic yield of these tests by adding RNA analysis to exome testing. That can help resolve variants of uncertain significance in about 2 to 3 percent of the cases. Ambry will also perform continuous reanalysis of the results over time to take into account new gene-disease relationships as they are discovered. This provides a diagnosis to about 5 percent of those without an answer. We spoke to Brigette Tippin Davis, chief operating officer for Ambry Genetics, about the diagnostic odyssey for people with a rare disease, Ambry’s new ExomeReveal test, and what people can do to accelerate their path to a diagnosis.…
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1 How One Patient Organization Catalyzed Drug Development 34:27
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Monica Coenraads, the mother of a daughter with Rett Syndrome, has played a critical role in catalyzing development of therapies to treat the rare, neurological disease. She co-founded and served as director of research for the Rett Syndrome Research Foundation. She later founded and today serves as CEO of the Rett Syndrome Research Trust. Her work shows how patient organizations can bridge the translational divide and de-risk rare disease drug development for biopharmaceutical companies. We spoke to Coenraads about her experience with Rett syndrome as a mother of a daughter with the condition, how she crafted a scientific agenda for the organizations she founded, and what other rare disease organizations can learn from her experience.…
Earlier this year, the company gained attention when it reported that developed a customized antisense oligonucleotide to treat a boy with an ultra-rare neurodevelopmental disorder in a year’s time. The company is leveraging AI to develop oligonucleotide medicines on demand. We spoke to Chris Hart, co-founder, president and CEO of Creyon Bio; about the proof-of-concept achieved with its recent N-of-1 therapy, the business model for Creyon, and the potential for its approach to reduce the time and cost of drug development.…
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1 After Driving an N-of-1 Therapy for Her Son, an Advocate Turns to Helping Others 30:48
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When Yiwei She’s son Leo was diagnosed with a severe neurodevelopmental condition, he was one of only two people known to have the ultra-rare disease. In a year, though, working with Creyon Bio, the family was able to move from the start of research for an ASO to treating Leo with the experimental therapy. We spoke to She, founder of the TNPO2 Foundation, about how her family was able to treat her son Leo with an experimental ASO with relative speed, the work the TNPO2 Foundation is doing to accelerate the diagnosis of other children with ultra-rare conditions, and its efforts to find accessible and affordable pathways to treatments for others.…
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1 Putting Rare Disease Organization in the Business of Drug Development 25:33
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Rare disease patient organizations are increasingly driving the discovery and development of therapies to treat the conditions on which they are focused. Organizations are seeking ways to accelerate these programs and advance them to the point where a biopharmaceutical partner might be willing to take them over. DevineBio was created to partner with patient organizations and provide them with the capability to discover and develop therapies and advance them to the clinic. We spoke to Chris Hopkins, CEO of DevineBio, about how the company works with patient organizations, how far it will advance programs, and its exit strategy.…
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1 Understanding the Many Questions Gene Therapies Raise 31:02
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Gene therapies have emerged as an important and growing area of medicine, but various players in the healthcare continuum are trying to understand the unique development, regulatory, and other issues surrounding this emerging modality. Avery McIntosh and Alex Sverdlov, both biostatisticians, have edited the new book “Development of Gene Therapies: Strategic, Scientific, Regulatory, and Access Considerations,” a reflection of their efforts to understand the complex of considerations the advent of these therapies raise. We spoke to McIntosh, director at Pfizer, and Sverdlov, senior director of statistical analysis at Novartis, about their new book, how a pair of biostatisticians view the challenges of gene therapy development, and why these therapies don’t easily fit into existing models.…
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1 A Test to Identify People Likely to Develop ALS 46:30
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Siblings and children of people with the rare, neurodegenerative disease amyotrophic lateral sclerosis are being offered a test in the United Kingdom at no-cost to see if they carry mutations to one of more than 40 genes that would make it likely for them to develop the condition. Sano Genetics developed the test under a grant from Innovate UK. The hope is the effort will expand the understanding of the condition while allowing people who are likely to develop the disease to make informed decisions about their lives. We spoke to Paul Wicks, vice president of neuroscience for Sano, about its test for ALS-related gene mutations, how it works, and why some healthy people might want to take advantage of it.…
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1 How an Ultra-Rare Disease Patient Foundation Advanced a Gene Therapy 27:57
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Multiple sulfatase deficiency is a rare and progressive neurodegenerative disease. The patient advocacy organization United MSD Foundation has been able to advance a gene therapy into preclinical development for the ultra-rare condition through modest investment by pursuing a focused research strategy and leveraging partnerships. In May 2023, The Bespoke Gene Therapy Consortium, the National Institutes of Health-led public-private partnership selected the program for its clinical trial portfolio and will fund a phase 1/2 clinical trial for the therapy. We spoke to United MSD Foundation Executive Director Sarah Cortell Vandryspen, and UT Southwestern Gene Therapy Core Director Steven Gray. about United MSD Foundation’s research strategy, what enabled it to advance a gene therapy as fast as it did, and what other patient organizations can learn from its success.…
Despite the growing demand for genomic data and the falling price of genome sequencing, costs continue to restrain its use. Single Technologies, which is developing a three-dimensional approach to sequencing, believes it can cut the cost to just $10 per genome for consumables. That’s a drop from estimates of about $600 today. We spoke to Johan Strömqvist, CEO and founder of Single Technologies and Bob Kain, advisor to the company, about its 3-D Sequencing, how it works, and how this can open up expansive use of the technology.…
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1 A No-Nonsense Effort to Develop a Therapy that Works Across Genetic Diseases 28:01
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Nonsense mutations prematurely end the translation of a gene into protein and can result in a serious deficiency. About 10 to 15 percent of inherited genetic diseases involve nonsense mutations. Alltrna is developing transfer RNA therapies designed to correct the problem in protein synthesis caused by these aberrations. What’s particularly exciting about the approach is that a single therapy has the potential to work across nonsense mutations regardless of the gene in which they occur. We spoke to Michelle Werner, CEO of Alltrna, about nonsense mutations, how the company’s transfer RNA therapies work, and why the approach has the potential to address so many diseases at once.…
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1 Mapping a Perilous Journey with Humor 26:57
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Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey that a family undergoes when seeking a diagnosis a rare disease, a humorous answer to the orderly way organizations typically portray the experience. We spoke to Parks about her experience with the diagnostic odyssey for her son Ford, her version of the map to a genetic diagnosis, and what organizations usually get wrong. Click here to view the map .…
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1 Restoring Vision in Inherited Retinal Disease 21:54
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Inherited retinal diseases are a group of genetic conditions that cause progressive and severe vision loss, such as retinitis pigmentosa, choroideremia, and Stargardt disease. Though they vary in terms of their genetic drivers, they are characterized by degeneration of photoreceptor cells in the retina. Collectively, inherited retinal diseases affect more than 2 million people around the world and are largely without reliable treatment options. Kiora Pharmaceuticals is developing a new class of therapies that can restore vision in these conditions by targeting retinal ganglion cells and enabling them to become light sensing to compensate for the degeneration of rods and cones in the eye. We spoke to Brian Strem, CEO of Kiora Pharmaceuticals, about inherited retinal diseases, how Kiora’s experimental therapy works to treat these conditions, and a recent collaboration that will help drive clinical development of its lead experimental therapy.…
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1 Bringing Genome Sequencing to Rural Populations 27:51
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For people in rural communities, access to genomic testing can require getting on a waitlist, delays in clinical assessment, and multiple visits to urban medical centers. A pilot study from Children’s Mercy Research Institute in Kansas City, Missouri, found that by partnering with a rural clinic in a direct-to-provider model it was able to more than double the historic rate for rare disease diagnosis among the rural population and also cut the time-to-diagnosis by about five months. We spoke to Ana Cohen, assistant director of molecular genetics at CMRI, about its direct-to-provider model, how providing local support to patients at their regular clinics allowed them to bypass bottlenecks, and how the approach can shorten the time to a diagnosis for people with rare diseases in rural communities.…
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1 Addressing a Blind Spot in Treatments for the Cornea 23:20
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The cornea is a transparent and multi-layered dome that sits at the front of the eye. It not only provides protection, but bends light to focus it on the retina. Many corneal diseases cause scarring that reduces the transparency of the cornea and results in the loss of vision. In fact, corneal diseases are a leading cause of blindness. Claris Bio is seeking to address the need for therapies to treat corneal disease by developing recombinant human deleted hepatocyte growth factor to improve and accelerate corneal healing. We spoke to Clarke Atwell, CEO of Claris Bio, about the cornea, the role hepatocyte growth factor plays in its healing, and the rare and chronic condition neurotrophic keratitis that it is focusing on as its lead indication.…
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1 Taking a Different Approach to Rare Epilepsies 38:53
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Lennox-Gastaut syndrome and Dravet syndrome are two rare, developmental and epileptic encephalopathies. Drug developers have sought to address epilepsies by altering the electrical activity in the brain. Ovid therapeutics, though, has taken a novel approach with its experimental therapy soticlestat by seeking to restore homeostasis to the brain. We spoke to Meg Alexander, chief strategy officer of Ovid, about rare epilepsies, how the company’s experimental therapy soticlestat works, and the potential to apply the approach to other CNS conditions. Since recording this episode, there have been new results on soticlestat released. Ovid’s partner Takeda this week reported that soticlestat narrowly missed its primary endpoint in its phase 3 Dravet syndrome study while showing clinically meaningful and nominally significant effects in multiple key secondary efficacy endpoints. It also missed its primary endpoint of reduction in major motor drop seizures as compared to placebo in a separate phase 3 study in Lennox-Gastaut syndrome. Takeda said it will be engaging with regulators to determine the best path forward.…
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1 A Rare Disease Drug Developer Tries to Earn Its Stripes 20:00
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Zevra Therapeutics, formerly KemPharm, rebranded itself in early 2023 following the acquisition of the experimental therapy arimoclomol for the rare lysosomal storage disorder Niemann Pick disease type C. Zevra is Greek for “zebra,” a symbol of rare disease. The company subsequently built out its rare disease pipeline through the acquisition of Acer Therapeutics in November 2023. An FDA decision on arimoclomol is due by the end of September. We spoke to Neil McFarlane, president and CEO of Zevra Therapeutics, about Niemann Pick disease type C, the FDA’s upcoming decision on whether to approve the drug, and its broader efforts to build itself into a rare disease therapeutics company.…
For certain rare diseases, therapies derived from human plasma, the largest component of blood, represent critical lifesaving and life-sustaining medicines. In many cases, it may represent the only therapeutic option. Takeda pharmaceutical’s Plasma-Derived Therapies Business Unit works across immunodeficiencies, neuroimmunology, hematology, pulmonology and other conditions. We spoke to Giles Platford, president of the Plasma-Derived Therapies Business Unit at Takeda, about its work in plasma-derived therapies, its recently approved therapy for the rare neuromuscular condition CIDP, and what issues need to be addressed to ensure an adequate supply of human plasma for therapeutic applications.…
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1 Differentiating Gene Therapies through Regulatory Elements 25:47
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Encoded Therapeutics is developing gene therapies that can target any cell type that has a unique genetic profile. The company’s lead experimental therapy is in development for the epileptic encephalopathy Dravet syndrome, although the company expects to pursue metabolic, liver, and cardiovascular conditions in the future. We spoke to Salvador Rico, chief medical officer of Encoded Therapeutics, about its lead program in Dravet syndrome, its efforts to develop gene therapies with optimized regulatory elements to target specific organs, and why he believes its approach is a point of differentiation for the company.…
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1 How One Patient Organization Leverages Research Investments 29:05
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Tuberous sclerosis complex is a genetic disorder that is characterized by tumor growth in various organs in the body, as well as neurological effects. Most people with TSC experience epilepsy early in life and many develop autism or other neuropsychiatric issues. The TSC Alliance has invested more than $37 million in research since 1984. Its efforts and collaborations have resulted in six U.S. Food and Drug Administration approved treatments for some aspects of the disease or related conditions. We spoke to Steve Roberds, chief scientific officer of the TSC Alliance, about the organization's success with crafting a research agenda, how it’s been able to invest in ways that catalyze research, and what it’s done to facilitate drug development by industry.…
Sunitha Malepati entered the world of patient advocacy after her child was diagnosed with a rare, neurodevelopmental disorder. More recently she founded the Buffalo Initiative to change drug discovery and development by creating a fund to invest in scientific enterprises driven by patient organizations and their collaborative networks. We spoke to Malepati about how she grew frustrated with the drug development landscape, how the Buffalo Initiative plans to fund patient advocacy organizations drug development efforts, and what the initiative is doing to reduce the time and cost of developing a therapy.…
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1 A Gene Therapy Developer that Embraces Different Models for Reaching Patients 30:20
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The work of gene therapy pioneer Genethon, a non-profit organization created by the patient association AFM-Telethon, has already seen its research lead to Zolgensma, the gene therapy for spinal muscular atrophy, as well as a growing pipeline of candidates for other rare diseases. But it came to realize it needed to pursue more than just licensing agreements to ensure its work ultimately benefited people who needed its therapies. As a result, the organization has taken a range of different approaches to ensure the development of its gene therapies. We spoke to Frederic Revah, CEO of Genethon, about the limits of licensing out its discoveries to biopharma, the different development strategies it pursues, and how it determines the best path for a particular development program.…
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1 Using Directed Evolution to Develop New Vectors for Genetic Medicines 31:08
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Much of the challenge of developing genetic medicines lies in having the right vector to deliver the therapy to the cells within the body where they need to go. 4D Molecular Therapeutics has developed platform technology that generates large numbers of genetically diverse, synthetic adeno-associated viral vectors that have desired characteristics using a process known as directed evolution. It is using these vectors to build a pipeline of genetic medicines across a broad set of conditions. We spoke to Alan Cohen, senior vice president of clinical development and therapeutic area head of pulmonology for 4DMT, about the limitations of existing vectors for genetic medicines, 4DMT’s directed evolution platform technology, and its programs in cystic fibrosis and Fabry disease.…
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1 Addressing a Shortage of Genetic Counselors with AI 35:18
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As genetic testing continues to expand, it is bringing into focus a shortage of genetic counselors who can work with patients to explain results and answer questions. Igentify is helping genetic counselors manage more patients by providing an AI-based platform that can take some of the load off of them by helping onboard patients, obtaining consents, and educating them. We spoke to Doron Behar, co-founder and CEO of Igentify, about the company’s Digital Genetic Assistant, how it works, and why it will allow genetic counselors to handle a much larger volume of patients.…
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1 A Small Molecule Therapy to Regenerate Muscle in People with DMD 23:55
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Duchenne muscular dystrophy is an inherited disease caused by genetic mutations that no longer allow the dystrophin protein to function properly. It turns out that dystrophin not only plays a role in muscle fiber, but in muscle stem cells as well and is critical for regeneration of muscle tissue. Without dystrophin, people with Duchene suffer progressive muscle tissue damage, functional decline, and ultimately loss of life. Satellos is developing an experimental small molecule therapy that restores innate muscle repair and regeneration. We spoke to Frank Gleeson, co-founder and CEO of Satellos, about its regenerative therapy for Duchenne, how it works, and why it may provide benefits to patients with other conditions that result in muscle degeneration.…
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1 Forging a Faster Path for Gene Therapies 28:28
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The Bespoke Gene Therapy Consortium, a public-private partnership backed by the Foundation for the National Institutes of Health, in February published its first playbook. The playbook provides a roadmap for streamlining product development and navigation of the regulatory pathway for AAV gene therapies with the goal of getting new treatments to patients sooner. We spoke to Courtney Silverthorn, vice president of strategic alliances and innovation for the Foundation for the National Institutes of Health; and Sharon King, manager of advocacy and community engagement for Aldevron and founder and president of Taylor’s Tale; about the Bespoke Gene Therapy Consortium, its new playbook, and how it will help gene therapy developers get their medicines to patients faster.…
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1 Determining the Value of Rare Disease Therapies 25:25
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The small patient populations of rare diseases, the limited natural history of these conditions, and the lack of long-term experience with new treatments all contribute to the difficulty in determining the value of rare disease therapies. The issue can be further complicated by whether value is calculated in a single payer system, or a multi-payer system. Recently the Innovation and Value Initiative issued a report with the Everylife Foundation for Rare Diseases from a long-term project to bring together stakeholders to explore patient-centered outcomes across rare diseases to inform those discussions. We spoke to Rick Chapman, chief scientific officer of the Innovation and Value Initiative, about the challenges of assessing the value of rare disease therapies, the role qualitative data should play in value assessments, and the recommendations from the report.…
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1 Buying and Building a Gene Therapy Presence 28:00
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Astellas Pharma took a big step into gene therapies when it announced an agreement at the end of 2019 to acquire Audentes Therapeutics for $3 billion. The company continues to build on that acquisition and has just completed construction on a 154,000 square foot, state-of the art cell and gene therapy facility to bring together teams dispersed across 20 locations. We spoke Ha Tran, medical head of cell and gene therapy for Astellas Pharma, about the company’s vision for cell and gene therapies, its efforts to restart trials for its X-linked myotubular myopathy gene therapy, and how it is looking to other programs beyond that.…
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1 A Clinical Trial Failure Derails a Promising Technology 44:08
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In February, Synlogic cut 90 percent of its workforce as it ended a pivotal study of its lead experimental therapy to treat the rare, metabolic condition phenylketonuria. The decision came in response to results of an internal review that indicated the trial was unlikely to meet its primary endpoint. Synlogic, which had been developing a new class of therapies using synthetic biology, is now weighing its strategic options. We spoke to Neal Sondheimer, outgoing head of clinical for Synlogic and adjunct associate professor of pediatrics and molecular genetics for The Hospital for Sick Children in Toronto, about PKU, the treatment options for people with the condition, and the consequences of the surprising results from the Synlogic study.…
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1 Helping People with Undiagnosed Rare Diseases Find Answers 32:19
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Michele Herndon’s son Mitchell began developing symptoms of an ultra-rare neurological condition in 2012. He went for five years without answers and in 2017, enrolled in the Undiagnosed Diseases Network, an NIH-funded research study that seeks to diagnose people with the most puzzling conditions. He was diagnosed with the genetic disease Mitchell syndrome, which was named for him. He died from the disease in 2019. Herndon not only started the Mitchell & Friends Foundation but is today the program director of the Undiagnosed Diseases Network Foundation. There she has helped establish the UDNF’s new Patient Navigator Program, which is designed to answer general question undiagnosed patients may have, connect them to resources, and guide them through the UDN process. We spoke to Herndon and F. Sessions Cole, secretary of Undiagnosed Disease Network Foundation and professor of Pediatrics at Washington University School of Medicine, about the diagnostic odyssey, the work of the Undiagnosed Disease Network and the Undiagnosed Disease Network Foundation, and how the new Patient Navigator program works.…
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1 Speeding and Scaling the Development of Genome Editing Therapies 50:47
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Earlier this year the Innovative Genomics Institute and the life sciences tools conglomerate Danaher launched a collaborative center to develop genome-editing therapies for rare and other diseases. The Danaher-IGI Beacon for CRISPR Cures seeks to address hundreds of diseases with a unified research, development, and regulatory approach. Their goal is to create a new model for the development of genomic medicines. We spoke to Fyodor Urnov, IGI’s director of technology and translation and director of the new Beacon center, about the evolution of gene editing technology, the challenges of a platform approach, and how the organization plans to share what it learns.…
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1 Getting a Next-Generation Genome Editing Therapy for Sickle Cell Disease Back on Track 42:47
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A serious adverse event in the first patient treated with an experimental genome editing therapy for sickle cell disease marked the beginning of the end for Graphite Bio. The company discontinued development of the treatment and eventually entered into a reverse merger with Lenz Therapeutics with a focus on improving vision. At the end of 2023, Kamau Therapeutics emerged from stealth following a strategic transaction with Graphite Bio that provided the new company with all of Graphite’s genome editing assets including next-generation platform technology and its lead program, a hematopoietic stem cell therapy engineered to restore adult hemoglobin by correcting a genetic mutation in people with sickle cell disease. We spoke to Matthew Porteus, co-founder of Graphite Bio and co-founder and CEO of Kamau Therapeutics, about the company’s genome editing technology, what’s now understood about the adverse event that occurred in the Graphite Bio clinical trial, and the development path forward for the therapy.…
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1 Trying to Break a Leg in a Wheelchair 16:52
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“Most Likely Not to…,” a musical comedy written and performed by people with the rare, neuromuscular condition spinal muscular atrophy, will make its world debut in New York City on World Rare Disease Day and be streamed live online. The show, part of Genentech’s SMA My Way awareness campaign, highlights the absurdities that people with disabilities often experience. We spoke to the show’s lead actress Shannon DeVido, and the show’s creative director Adam Pryor, about the play, living with SMA, and DeVido’s pursuit of a career as a performing artist despite having the condition.…
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1 A Drug Developer that Makes Pediatric Cancers a Priority 32:58
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Because of the rarity of childhood cancers, biopharmaceutical companies often don’t pursue therapies to treat these conditions. The problem is that precision therapies developed to treat adult patients often don’t easily translate into treatments for pediatric patients. Day One Biopharmaceuticals is developing targeted therapies to address childhood cancers and then seeks to partner with larger pharmaceutical companies who may be interested in developing them for adult indications. We spoke to Samuel Blackman, head of research and development for Day One Biopharmaceuticals, about childhood cancers, the need for precisions therapies, and Day One’s business model that makes targeting childhood cancers a priority.…
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1 Harnessing the Body’s Natural RNA Machinery to Treat Diseases 35:50
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RNA editing provides a way to address disease-causing mutations and modulate protein function. Korro Bio has developed platform technology that it says solves many of the challenges facing current gene therapy and gene editing approaches by harnessing the body’s natural RNA editing machinery to make precise, single-base RNA edits. We spoke to Ram Aiyar, president and CEO of Korro Bio, about the company’s RNA editing platform technology, how it works, and its initial focus on applying its approach to treat a rare liver disease.…
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1 Targeting the Leading Cause of Death in Friedreich’s Ataxia with a Gene Therapy 24:39
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Friedreich’s ataxia is a rare, genetic, degenerative disorder that affects multiple systems in the body. As the disease progresses, patients typically experience various heart conditions. Hypertrophic cardiomyopathy, fibrosis, heart failure, and arrhythmias are the cause of death in approximately two-thirds of Friedreich’s ataxia patients. Lexeo Therapeutics is developing a gene therapy to treat FA cardiomyopathy. We spoke to R. Nolan Townsend, CEO of Lexeo Therapeutics, about Friedreich’s ataxia, the company’s gene therapy in development, and its pursuit of gene therapies for both rare and common diseases.…
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1 How Inhaled mRNA May Help Rare Disease Patients Breathe Easier 24:33
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Primary ciliary dyskinesia is a rare, genetic disease that arises from structural defects or the absence of the cilia lining of respiratory tract. This leads to mucus littered with trapped microbes, dust, and other debris getting caught in the airways, which can lead to permanent lung damage. Ethris is developing an inhaled mRNA therapy to get the body to produce a needed structural protein to restore normal cilia structure and function. We spoke to Thomas Langenickel, chief medical officer of Ethris, about how the company’s technology overcomes existing challenges for the therapeutic use of mRNA, its ability to deliver treatments directly to the lung, and its pipeline of therapies in development.…
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1 Changing What’s Possible with Cell and Gene Therapies 34:34
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Genome editing technologies are rapidly evolving, but existing approaches have limited capabilities. Tome Biosciences, which emerged from stealth in December 2023, said its programmable genomic integration technology enables the insertion of any genetic sequence of any size at any location in the genome with precision. The technology overcomes barriers in existing approaches and can enable the development of a single therapy for a monogenic disease across a wide range of variants. We spoke to Rahul Kakkar, president and CEO of Tome, about the company’s genome editing technology, how it works, and its potential to change what is possible with gene and cell therapies.…
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1 Why Flying with a Wheelchair Is a Civil Rights Issue 43:02
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Despite existing laws and regulations intended to protect the rights of people with disabilities to fly on airlines, travelers with wheelchairs and medical equipment face obstacles to enjoying the freedom of movement others take for granted. Neglectful handling of equipment, lack of training, and failure to adequately accommodate these travelers have led to a public call for airlines to do more to recognize the rights of people with disabilities. We spoke to Global Genes’ Director of Community Engagement Daniel DeFabio and Founder and President of The Jansen’s Foundation Neena Nizar, about the challenges disabled airline passengers face, what the law says, and why this is a civil rights issue.…
Key opinion leader and digital opinion leaders, terms the bioharmaceutical industry uses to identify influencers, play a critical communications role. They not only can help raise awareness and drive acceptance of innovative products, but also serve as a conduit to help inform companies about what matters to patients and doctors, give insights on clinical trial design and site selection, and help recruit patients for studies. Adnexi identifies and scores KOLs and DOLs in specific areas to help biopharmaceutical companies identify the critical influencers they need to seek out. We spoke to Sandra Shpilberg, co-founder and CEO of Adnexi, about the role KOLs and DOLs play, how Adnexi identifies and measures their influence, and what companies need to consider when engaging them.…
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1 Bringing Precision to the Treatment of Rare Cancers 32:58
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Despite the prevalence of cancer, the vast majority of known cancers are rare and face the same type of treatment challenges as other rare diseases. David Hysong was diagnosed at the age of 27 with adenoid cystic carcinoma, a rare head and neck cancer, and that set him on the path to address the needs he saw in patients with these diseases. Hysong, founder and CEO of Shepherd Therapeutics, discusses his company’s use of AI to analyze individual patient’s tumor RNA, its efforts to match rare cancer patients to their best therapeutic options, and how it is using data captured from the transcriptome to develop new therapies for people with rare cancers.…
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1 The Challenges of Developing a Therapy for Pregnant Women with A Rare Condition 27:03
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Hemolytic disease of the fetus and newborn is a rare autoantibody condition for which there is no approved therapy. It causes the mother’s immune system to attack and breakdown the red blood cells in her fetus or newborn. It is one of more than 10 immunological and neurological indications for which Johnson & Johnson is developing its experimental monoclonal antibody nipocalimab. We spoke to Katie Abouzahr, vice president of the autoantibody portfolio and maternal fetal disease area leader for Johnson and Johnson, about hemolytic disease of the fetus and newborn, the challenges of developing a therapy for a rare condition in pregnant women, and why nipocalimab has the potential to be a pipeline in a product.…
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1 How One Drug Developer Is Addressing Health Inequities 24:42
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Hypertrophic cardiomyopathy is a rare, genetic heart condition that has a disproportionate impact on people in the Black community because of socio-economic and access issues. Cytonkinetics' experimental therapy aficamten is in late-stage development to treat the condition, but it also reflects a long-term focus of the company to address health inequities. We spoke to Robert Blum, CEO of Cytokinetics, about hypertrophic cardiomyopathy, how the company has worked to build relationships in the black community to expand participation in clinical trials, and how it is thinking ahead to issues of access and affordability as it advances the drug towards the market.…
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1 Accelerating the Development of Genetic Medicines with AI 19:15
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The advent of genetic medicines is enabling the development of therapies that can repair or replace a faulty genetic sequence underlying a disease. WhiteLab Genomics has developed an AI-based platform to enable target discovery and design of DNA and RNA therapies in silico and shorten development times. We spoke to David Del Bourgo, CEO of WhiteLab Genomics, about its AI-platform technology, the data it uses, and its role in a consortium to develop highly specific vectors for genetic medicines.…
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1 Leveraging AI to Address the Neuropsychiatric Conditions Associated with a Rare Disease 35:57
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Though many drug developers today are applying artificial intelligence and machine learning to accelerate and improve drug discovery, the results they produce, in part, may be limited to the quality of the data they are able to use. Nobias Therapeutics is not only using public and private data, but it boasts unique and proprietary access to one of the world’s largest and most diverse pediatric genomic data sets to drive insights into human biology. The company’s lead experimental therapy is a treatment for the rare condition 22q11.2 deletion syndrome, which is associated with a range of neuropsychiatric conditions. We spoke to Neil Inala, CEO of Nobias Therapeutics, about how AI is transforming drug discovery, the data Nobias is able to use to fuel its drug discovery, and the company’s experimental therapy for the neuropsychiatric conditions associated with 22q11.2 deletion syndrome.…
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1 In Pursuit of a Treatment for His Son, A Lawyer Becomes a Biotech Executive 27:39
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Alex Nemiroff took an unusual path to becoming the general counsel at Praxis Precision Medicines. Nemiroff’s son was diagnosed with a rare genetic epilepsy, and he co-founded the biotechnology company RogCon to develop an antisense oligonucleotide to treat it. Praxis licensed the project and hired Nemiroff as its general counsel. Now, the company has released encouraging data from the first four evaluable patients in a clinical study of the experimental therapy. We spoke to Nemiroff, general counsel at Praxis Precision Medicines, about his journey as a parent of a child with a rare, genetic disease; how he came to launch a biotechnology company to develop a treatment for his son, and what other patient families looking to advance a therapy can learn from his experience.…
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1 In Push for Treatment, a Patient Organization Becomes a Trial Sponsor 32:49
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Pazopanib, a targeted therapy marketed as Votrient, is used to treat certain cancers. The drug has shown promise as a potential treatment for the rare genetic blood vessel disorder hereditary hemorrhagic telangiectasia (HHT), but when a change in ownership of the drug took place, efforts to develop the drug for HHT ended. That led the patient advocacy organization Cure HHT to step in and sponsor a phase 2/3 trial on its own. We spoke to Marianne Clancy, executive director and senior director of strategic partnerships for Cure HHT about the organization’s decision to sponsor a clinical trial, why it felt it was necessary to do, and what other patient organizations can learn from its experience.…
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1 Delayed Diagnosis of Rare Diseases Takes Staggering Economic Toll 31:54
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The economic impact of a delayed diagnosis of a rare disease can result in up to $517,000 in avoidable costs per patient, according to a recent analysis from the Everylife Foundation for Rare Diseases and the Lewin Group. On average, the report found, it takes more than six years and nearly 17 doctor visits, hospitalizations, and other health-related trips, to receive a rare disease diagnosis after symptoms begin. Shortening the diagnostic odyssey saves money for individuals, caregivers, and the healthcare system, while improving health outcomes. We spoke to Annie Kennedy, chief of policy, advocacy, and patient engagement for the Everylife Foundation, about the diagnostic odyssey, the economic toll it takes, and what can be done to shorten the time to a diagnosis.…
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1 A Cell Therapy to Control Heart-Damaging Inflammation in Duchenne 22:58
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Duchenne muscular dystrophy is a rare neuromuscular disease that causes muscle degeneration and premature death. As the condition progresses, heart muscle cells die and are replaced with scar tissue. This leads to heart failure, which is currently the leading cause of death among people with Duchenne. Capricor Therapeutics is developing a therapy that uses caridosphere-derived cells from healthy human hearts to slow progression of the condition though their anti-inflammatory effects. We spoke to Linda Marban, CEO of Capricor Therapeutics, about Duchenne muscular dystrophy, the damage the condition does to the heart, and how the company’s experimental cell therapy modulates the immune system to control chronic inflammation caused by the disease.…
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1 Stimulating the Growth of Muscle Mass in People with Neuromuscular Diseases 21:50
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While there have been significant advances in the treatment of the rare, neuromuscular condition spinal muscular atrophy, existing therapies that slow or halt progression of it don’t regenerate muscle that has been lost. Biohaven is developing a therapy designed to inhibit myostatin, a protein that regulates the growth of skeletal muscle growth. We spoke to Lindsey Lee Lair, Biohaven’s vice president of clinical development, about SMA, the progress we’ve seen in treating the condition, and the company’s efforts to develop a therapy to stimulate the growth of muscle mass and strength in people with the disease.…
The Yaya Foundation recently achieved a milestone in advancing towards treatments for 4H leukodystrophy when it successfully developed a mouse model. It reflects a broader effort that has allowed the organization to drive towards the development of a gene therapy to treat the rare, neurodevelopmental. We spoke to Ron Garber, co-founder and board president of the Yaya Foundation, about 4H leukodystrophy, how the organization built a research agenda, and the rapid progress it has made.…
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1 A Plea to the FDA to Give an Ultra-Rare Disease Drug a Fair Hearing 22:56
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In 2021, the U.S. Food and Drug Administration notified Stealth Biotherapeutics it would not consider its application seeking approval for elamipretide as a treatment for the ultra-rare mitochondrial disease Barth syndrome. The agency wants the company to produce evidence of the drug’s efficacy in a larger population of Barth syndrome patients than it studied, but the company believes it has exhausted the population in the United States of patients who fit the clinical trial criteria. Patients have lobbied the agency to give the drug a hearing, but there is growing concern that if the FDA fails to act, elamipretide will become unavailable to patients, who say the drug has given them the ability to lead a normal life. In an effort to move the FDA, Shelley Bowen, co-founder and director of family services for the Barth Syndrome Foundation, launched a Change.org petition calling on the agency to give a full and fair hearing to the drug. We spoke to Bowen about Barth syndrome, the fight over approval for the first drug to treat the condition, and why it points to a systemic problem with the lack of consistent use of the flexibility Congress granted the FDA to get treatments to patients with ultra-rare diseases.…
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1 How the Woolly Mammoth Beat a Path to Better Gene Therapies 44:35
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1 A Genetic Counselor’s Journey into Patient Advocacy 26:12
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Finding a diagnosis for a child with a rare condition can be challenging, even when his mother is a genetic counselor. Danielle Bonadies’ son Ethan was born with a brown birthmark known as a café au lait spot. But as the spots proliferated over the next few months, his pediatrician recognized it as a potential sign of a rare, genetic disorder. It wasn’t until Ethan was 2 that genetic testing led to a formal diagnosis of neurofibromatosis type 1, a genetic condition that leads the development of tumors that can affect the brain, nerves, and spinal cord. We spoke to Bonadies about caring for a child with neurofibromatosis, how her professional and private lives have been thrust together because of her son’s diagnosis, and her evolution as a patient advocate.…
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1 A Company in the Fold of Rare Disease 30:29
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Protein misfolding is an underlying issue for many diseases, including lysosomal storage disorders and some neurodegenerative conditions. When a protein misfolds, its three-dimensional structure is disrupted, and it can no longer function properly. Gain Therapeutics is using its AI-driven discovery platform to identify novel targets to fuel a pipeline of therapies that focus on enzymes involved in rare genetic diseases, but that also share genetic profiles with more prevalent ones. We spoke to Matthias Alder, CEO of Gain Therapeutics, about the role protein misfolding plays in a range of diseases, Gain’s platform technology, and its lead experimental therapy in development to treat Gaucher disease.…
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1 Disabling Antibodies that Drive Rare, Immunological Conditions 27:39
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Antibodies play an important role in the protective immune response. In some situations, though, such as autoimmune diseases, antibodies can cause harm by attacking healthy tissue. Hansa Biopharma has developed an antibody-cleaving enzyme technology platform to target pathogenic antibodies involved in autoimmune disease, organ transplantation, and gene therapies. Its lead experimental therapy, imlifidase, is designed to inactivate immunoglobulin G antibodies through a single intravenous treatment. It is in development for a range of rare, immunological conditions including Guillain-Barre syndrome or anti-GBM disease and as a pre-treatment for various gene therapies. We spoke to Matthew Shaulis, chief commercial officer and U.S. president for Hansa Biopharma, about the company’s antibody-cleaving platform technology, how it works, and its range of potential uses.…
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1 Keeping the Sentinels of the Brain Vigilant 19:26
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Microglia are specialized immune cells in the central nervous system that act as sentinels to maintain healthy brain function. They protect the brain against processes that can ultimately lead to neurodegeneration. Vigil Neuroscience is developing precision medicines designed to target microglia and restore and enhance the performance of these cells when they fail to act as they should due to disease. The company’s lead program is in development as a treatment for ALSP, a rare, genetic, neurodegenerative condition. We spoke to Ivana Magovčević-Liebisch, president and CEO of Vigil Neuroscience, about the role of microglia, what happens to these cells in ALSP, and why the company’s approach can have implications for a range of rare and common neurodegenerative conditions.…
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1 Considering the Unfinished Work in Cystic Fibrosis 23:44
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Cystic fibrosis is a rare disease that has been an area of significant innovation. New therapies have provided life-changing treatments for most patients, but about 10 percent of people with the condition don’t benefit from these treatments because of the specific mutations underlying their condition. We spoke to Jamie Chang, senior medical director at the contract research organization Rho, about the advances that have been made to treat cystic fibrosis, the treatment gap that remains, and what’s working its way through the pipeline that may change that.…
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1 How to Advocate for Yourself as You Battle Cancer 28:55
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At 41, Bill Potts received a diagnosis of thyroid cancer. He listened to the recommendations from his primary care physician and didn’t seek out a second opinion. It was only six months later, during a follow up visit when his doctors wanted to repeat his treatment with radioactive iodine that he began to ask questions and started to advocate for himself. He now says he would likely be dead had he not sought out a second opinion at that time. He’s since learned a lot about advocating for himself with cancer as he’s been diagnosed six times with cancer. He’s taken what he’s learned from his experiences and written Up for the Fight, a guide for newly diagnosed cancer patients, family members, and caregivers. It provides not only critical advice on dealing with the mental aspects of the disease, but also lots of practical advice about navigating the healthcare system, insurance companies, and treatments that could only come from lived experience. We spoke to Potts about why it’s essential for patients to learn to advocate for themselves, how to navigate the mental and emotional aspects of the disease, and why it’s important to stay motivated and celebrate small achievements along the way.…
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1 Targeting Neuroinflammation to Treat ALS 25:34
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Regulatory T cells target systemic inflammation and neuroinflammation, but when they fail to function properly, they can drive serious health conditions including neurodegenerative, metabolic, and autoimmune diseases. Coya Therapeutics is developing a pipeline of therapies designed to restore the ability of Tregs to modulate the immune system and reduce inflammation. The company’s lead experimental therapy is a combination of two biologics designed to treat ALS by boosting anti-inflammatory Tregs while suppressing other immune cells that drive inflammation. We spoke to Howard Berman, chairman and CEO of Coya, about the role of inflammation in neurodegenerative conditions, Tregs, and the company’s experimental therapy to treat ALS.…
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1 Leveraging Community Partnerships to Address a Rare Disease Behind a Medical Mystery in New Mexico 33:42
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Cristóbal Baca and Ana Ortiz came to New Mexico in 1600. Today, they have as many as 5 million descendants. A four-year effort involving community volunteers and workers, medical professionals, researchers, and families across New Mexico unraveled what had been a long-standing medical mystery. It turns out Baca and Ortiz are the source of a founder mutation for cerebral cavernous malformation, a sometimes-hereditary illness that causes the development of abnormal blood vessels in the brain and spinal cord and is potentially fatal. Some 30,000 New Mexicans carry the mutation. We spoke to Connie Lee, president and CEO of the Alliance to Cure Cavernous Malformation, about the Baca Family Historical Project, how her organization leveraged partnerships with community leaders to identify people with the condition, and how the organization used a novel approach to engage people and improve their access to testing and care.…
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1 Accelerating Gene Editing Therapies for Rare, Neurological Conditions 32:18
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In June, the National Institutes of Health’s National Institute of Neurological Disorders and Stroke made a five-year, $22.8 million grant to a group led by The Jackson Laboratory to develop gene-editing therapies for four rare, neurological conditions. The use of a platform approach to develop therapies for multiple indications follows other efforts on going at the National Institutes of Health in the area of gene therapies. We spoke to Steve Murray, associate professor at The Jackson Laboratory, about the promise of gene-editing, the work being done under the grant, and why the work could have broad implications for treating rare genetic neurological conditions.…
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1 Inhibiting Electrical Activity in Rare, Seizure Disorders 19:15
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CDKL5 deficiency disorder (CDD) is a serious and rare, genetic condition characterized by early onset and difficult to control seizures, as well as severe neuro developmental impairment. Last year, the U.S. Food and Drug Administration approved Marinus Pharmaceuticals Ztalmy to treat seizures associated with CDD, the first FDA approved therapy for the condition. Marinus is seeking to expand the use of Ztalmy in other seizure disorders including tuberous sclerosis complex and Lennox-Gastaut syndrome. We spoke to Alex Aimetti, chief scientific officer of Marinus, about Ztalmy, how it works, and the efforts to expand its use to other seizure disorders.…
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1 Improving the Function and Usability of Clothing for People with Disabilities 23:49
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Clothing is both functional and a means of self-expression, according to Open Style Lab, a nonprofit that works with designers, engineers, and occupational therapists to create clothing that addresses the needs of people with disabilities. In September 2022, as part of Genentech’s SMA My Way initiative, Open Style Lab and the SMA community joined forces for New York’s Fashion Week to feature the Double-Take fashion show in the hopes of increasing the visibility of people with disabilities and championing adaptive fashion. We spoke to Yasmin Keats, executive director of Open Style Lab, about her organization’s efforts to promote the design of adaptive fashion, the impact it can have on work and other opportunities for people living with disabilities, and how it is helping to change the fashion industry.…
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1 Treating Cardiopulmonary Disease with Inhaled Targeted Therapies 24:17
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Pulmonary arterial hypertension is a rare and progressive condition characterized by high blood pressure in the arteries of the lungs due to their narrowing or a blockage. This causes the heart to work harder to pump blood and leads to heart failure, the need for lung transplantation, and death. Aerami is developing an inhaled form of the targeted cancer therapy imatinib as a treatment for PAH. We spoke to Josh Ziel, chief operating officer and interim CEO of Aerami, about pulmonary arterial hypertension, the company’s experimental therapy to treat the condition, and its efforts to build a pipeline of therapies that make use of its proprietary inhalation technology.…
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1 A Patient-Driven Registry Focused on Health-Related Quality of Life Data 23:17
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Patients may be the experts on their own conditions, but data that captures health-related quality of life is often underutilized in research. The PKD Foundation is working with IQVIA to create a registry of patients with autosomal dominant polycystic kidney disease, a rare kidney condition. The ADPKD registry focuses on patient-reported, health-related quality of life data. The organization believes the registry will not only provide new insights into the condition but help with the design of efficient clinical trials and accelerate the development of new treatments. We spoke to President and CEO of the PKD Foundation Susan Bushnell, Vice President of Research Programs at PKD Foundation Elise Hoover, and Senior Director of Global Strategic Planning for IQVIA’s Integrated Health Practice David Voccola, about the new registry, how it is leveraging technology to enable patients to drive insights into their condition, and the challenges it needs to overcome.…
The search for a diagnosis can take many years and requires going from doctor to doctor without finding a definitive answer for people with ultra-rare conditions, atypical presentations, or yet-to-be discovered diseases. A group of undiagnosed and ultra-rare diseases patients and their family members, medical providers, and advocacy partners launched the Undiagnosed Diseases Network Foundation to improve access to diagnosis, research, and care for people with undiagnosed diseases. We spoke to Amy Gray, CEO of the UDNF, about its work, its relationship with the National Institutes of Health-backed Undiagnosed Disease Network, and the organization’s top priorities.…
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1 Help for Rare Disease Patients That’s Just a Click Away 36:22
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Mary Morlino knows what it’s like to search for information and resources for a loved one with a rare disease or yourself. She had two nephews who were diagnosed with the rare neuromuscular disease Becker muscular dystrophy and later she was diagnosed with the rare autoimmune condition sarcoidosis. She now performs that search for information and resources professionally, so others don’t have to do so. Today, Morlino serves as Global Genes’ RARE Concierge Patient Services manager. The service serves as an entry point for patients, caregivers, patient advocates, and other rare disease stakeholders in search of information, resources, and connections. We spoke to Morlino about her own rare disease journey, the work she’s doing as part of Global Genes’ RARE Concierge program, and the need she is addressing.…
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1 Diagnosing Autism with a Single Strand of Hair 27:31
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Our interactions with the environment can have unexpected effects on our genes and trigger a biologic response that leads to the onset of disease. These interactions can also leave a measurable record in what’s referred to as the exposome. LinusBio, which emerged from the exposome laboratory at Mount Sinai Health System, has developed a test for autism that relies on analyzing a single strand of hair. The company said the test is capable of diagnosing autism at birth. We spoke to Manish Arora, founder and CEO of LinusBio, about the exposome, how the company’s test for autism works, and how this opens the potential for early interventions.…
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1 Bringing Regenerative Medicine to a Rare Bone Condition in Children 17:13
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Congenital pseudarthrosis of the tibia is a rare condition that can cause spontaneous fractures, mobility problems, and impede proper growth. It is treated surgically, but because the bone often breaks again, it can lead to amputation. Novadip is developing an autologous cell therapy to allow tissue regeneration of large bone defects. We spoke to Denis Dufrane, co-founder and CEO of Novadip, about the rare pediatric bone disorder, the company’s cell therapy to address the condition, and how it works.…
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1 Bringing Precision to CRISPR-Based Genome Editing 26:32
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CRISPR genome editing has the potential to revolutionize the treatment of diseases, but the imprecision of its editing abilities has limited its value. Emendo Biotherapeutics argues that rather than trying to make every disease fit into the standards CRISPR model, the answer lies in making CRISPR fit each disease. We spoke to Rafi Emmanuel, executive vice president of research and development for Emendo Biotherapeutics, about the limits of CRISPR today, the company’s experimental program in severe congenital neutropenia, and how the company is engineering CRISPR to optimize it and make it activity precise.…
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1 Capturing Patients’ Experience in Their Daily Lives 19:18
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One of the challenges with rare diseases is how different their effects can be from one person to another. In order to get a deeper understanding of the impact and variation of the rare autoimmune condition myasthenia gravis on people, Argenx launched MyRealWorld MG, an app-based study that’s collecting real-world, longitudinal data from 2,000 patients over two years. We spoke to Deb Gelinas, neuromuscular executive director at Argenx, about myasthenia gravis, the company’s MyRealWorld MG study, and how she hopes the data will provide new insights into the rare, autoimmune condition.…
When Terry Pirovolakis’ son Michael was diagnosed with the ultra-rare neurodegenerative disease spastic paraplegia type 50, he set out to raise money and engage researchers in developing a treatment. Now, after successfully dosing Michael with an experimental gene therapy as the first patient in a clinical trial, he has launched Elpida Therapeutics to develop multiple gene therapy programs for children with ultra-rare diseases. We spoke to Pirovolakis about the need Elpida is seeking to address, its unusual business model, and why he hopes to hand off its therapies at no cost to a partner once they win approval.…
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1 A Nasal Spray to Curb Excessive Eating in Prader-Willi 22:08
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Parder-Willi syndrome is a rare, genetic disease that is characterized, in part, by hyperphagia—an intense and insatiable hunger. People with the condition are driven to constantly eat and seek out food. The syndrome is associated with severe obesity and obesity-related mortality. Tonix Pharmaceuticals is developing an experimental oxytocin nasal spray to treat hyperphagia in people with Prader-Willi syndrome. The approach, to date, has shown promise in animal models. We spoke to Seth Lederman, CEO of Tonix, about Prader-Willi syndrome, the unmet need for treatments, and why he believes an oxytocin nasal spray has potential to treat the condition.…
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1 How One Foundation Is Laying the Groundwork to Advance Treatments for an Ultra-Rare Disease 26:06
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A week before Deborah Ondrasik’s daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CACNA1A-related disorders, how it progresses, and what the CACNA1A Foundation is doing to advance research to speed the development of treatments and a cure.…
Amy Dockser Marcus, in her new book We the Scientists, tells the story of a group of parents of children diagnosed with the rare and fatal genetic lysosomal storage disorder Niemann-Pick disease type C. When they were confronted with the fact that no treatment existed or would likely be developed in time to save the lives of their kids, they began collaborating with themselves, researchers, and physicians to accelerate the path to a treatment. We spoke Marcus about the lessons learned from the experience of the Niemann-Pick disease type C community, how these parents took an active role in the drug development process as citizen scientists, and how their efforts reflect a broader change in the way biomedical research is conducted.…
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1 Restoring Hearing through Gene Therapies 41:30
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About 10 percent of children who are diagnosed with hearing loss at birth have an auditory neuropathy that is usually due to a genetic cause. One of the most common genetic causes of hearing loss is due to a mutation of the otoferlin gene, which encodes for a protein that enables communication between the sensory cells of the inner ear and the auditory nerve. Decibel Therapeutics is developing an experimental gene therapy intended to restore hearing in patients with a mutation of the otoferlin gene. It is part of a larger collaboration with Regeneron Pharmaceuticals. We spoke to Laurence Reid, CEO of Decibel, about the unmet need in genetic hearing loss, how these conditions can affect early development of children, and the case for gene therapies to treat these conditions.…
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1 Creating a Sustainable Reimbursement Model for Ultra-Rare Therapies 34:49
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While there is growing ability to pursue the development of therapies for ultra-rare diseases, they remain challenging because of economics. One major barrier is the difficulty in getting reimbursement for therapies in the absence of well-powered clinical trials that recruit enough participants to satisfy payors demands for adequate proof of the value of a therapy. The Muscular Dystrophy Association, earlier this year, awarded the nonprofit biotechnology Cure Rare Disease a grant to research novel reimbursement strategies for ultra-rare disease therapies. We spoke to Rich Horgan, founder and president of Cure Rare Disease, about the evolution of his organization, its growing pipeline of therapies, and why developing a viable reimbursement model is essential to creating sustainable development of ultra-rare disease therapies.…
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1 Lumos Hopes Its Oral Alternative to HGH Will Fuel Its Growth 18:02
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Growth hormone deficiency is a rare condition that is the result of inadequate secretion of growth hormone from the pituitary gland. Though recombinant human growth hormone has long been used to treat people with pediatric growth hormone deficiency, it requires either daily or weekly injections and when injections are missed, results can be sub-optimal. Lumos Pharma is developing a once-daily oral therapy that works by promoting secretion of growth hormone. We spoke to Rick Hawkins, chairman and CEO of Lumos Pharma, about the company’s experimental therapy, how it works, and why it may be an attractive alternative to existing approaches.…
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1 Advancing a Gene Therapy for a Rare and Fatal CNS Disorder 20:02
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GM1 gangliosidosis is a rare and deadly lysosomal storage disorder that causes progressive damage to neurons in the brain, as well as the heart, liver, bones and other tissues throughout the body. There are currently no approved therapies to treat the condition. Passage Bio, which has a collaboration with the Gene Therapy Program at the University of Pennsylvania, is developing a gene therapy to the condition. We spoke to Samiah Al-Zaidy, vice president of clinical development for Passage, about GM1 gangliosidosis, the company’s experimental therapy to treat the condition, and what’s known about the therapy from work that’s been done to date.…
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1 Addressing the Barriers to Patient Participation in Clinical Trials 26:04
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A significant obstacle to getting patients to participate in rare disease clinical trials, particularly children, is the burden placed on patients and their families to address the logistical challenges of arranging travel, fronting expenses, and completing paperwork for reimbursement. In fact, nearly two-third of patients and caregivers say travel stopped them from participating in a clinical trial. Clincierge seeks to remove the burden of participation in clinical trials on patients and caregivers by managing the logistics of travel and reimbursement, as well as assigning coordinators to them during the life of a study. We spoke to Scott Gray, co-founder and CEO of Clincierge, about the burdens placed on patients who want to participate in a clinical trial, how Clincierge works to eliminate those, and the impact its work has on recruitment and retention of patients in clinical studies.…
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1 A Venture Philanthropist Makes the Case for Advocates Taking Equity 27:23
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Debra Miller’s son Hawken was diagnosed with Duchenne muscular dystrophy at the age of 5. Rather than just accept his fate with the rare neuromuscular condition, Miller and her husband Paul launched CureDuchenne to stimulate the development of treatments and potential cures for the condition. The organization subsequently launched a venture philanthropy fund that, to date, has financed 17 research projects that have advanced to human clinical trials and seen others invest nearly $3 billion in follow-on funding for companies that it has backed. We spoke to Miller about CureDuchenne’s experience with venture philanthropy, the case for patient advocacy organizations taking equity in exchange for their funding, and what other advocates hoping to stimulate drug development can learn from CureDuchenne’s experience.…
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1 Seeking a Sustainable Business Developing on N-of-1 Therapies 45:13
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The ability to pinpoint the underlying genetic causes of diseases and rapidly generate genetic medicines to address them has created the potential for the development of individualized therapies to treat patients with ultra-rare diseases. EveryOne Medicines is seeking to industrialize this process and scale the development of N-of-1 therapies. We spoke to Irina Antonijevic, chief medical officer of Everyone Medicines, about the company’s business model for pursuing N-of-1 therapies for people with rare diseases, how it works, and whether it can be sustainable absent a mechanism for reimbursement.…
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1 How One Drugmaker Reaches out to Communities at Greater Risk for Rare Heart Condition 15:48
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1 A Next-Generation RNA Therapy Targets Telomere Disorders 20:13
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Telomere biology disorders are a set of rare genetic diseases caused by a shortening of the protective DNA that appears at the ends of chromosomes. Between 80 and 90 percent of people with these conditions will suffer from bone marrow failure by age 30, the leading cause of mortality for people with these disorders. The only available treatment today is transplantation of donor human stem cells. Elixirgen is developing what it calls self-replicating RNA therapies to treat telomere biology disorders and other conditions. We spoke to Akihiro Ko, CEO Elixirgen Therapeutics, about telomere biology disorders, the company’s self-replicating RNA therapies, and the advantages this new therapeutic approach offers over more traditional mRNA therapies.…
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1 BridgeBio Advances Therapy for Limb-Girdle Muscular Dystrophy that Started with Two Patient Families 29:19
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Limb-girdle muscular dystrophy type 2i is a rare, genetic condition that causes progressive muscle degeneration that can impact skeletal, respiratory, and cardiac muscles. As the condition progresses, people lose the ability to perform routine daily activities, such as walking or standing up without assistance. There are no therapies available today to slow, halt, or reverse the condition. ML Bio, a company founded by two patient families in search of treatments for the condition and later acquired by BridgeBio, is advancing an experimental therapy with the potential to become the first oral treatment for the limb-gridle. We spoke to Doug Sproule, chief medical officer of ML Bio Solutions, about limb girdle muscular dystrophy type 2i, the company’s experimental therapy to treat the condition, and the power of rare disease patient families to shape drug development. One note before we begin. Early in the discussion Sproule misspeaks. The founders of ML Bio are the McColl and Lockwood families and the company’s lead experimental therapy was discovered at the McColl-Lockwood Lab.…
The National Institutes of Health in November named Joni Rutter Director of the National Center for Advancing Translational Sciences. Rutter had served as acting director since April 2021. She succeeded Chris Austin, the first permanent director of NCATS, who stepped down after ten years on the job. NCATS is charged with developing technologies and approaches to accelerate the process of moving new treatments from the lab to the patient. As part of its work, it has several program and initiatives that are focused specifically on rare diseases. We spoke to Rutter about NCATS’ priorities under her leadership, the challenges of translational science, and where she sees the biggest opportunities for accelerating the discovery and development of therapies for rare diseases.…
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1 Empowering Ultra-Rare Disease Patients to Pursue the Discovery of Treatments 33:28
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Casey McPherson hasn’t taken a typical path to becoming a bioentrepreneur. The singer-songwriter is the frontman for Alpha Rev, an up-and-coming indie band from Austin, Texas. Rather than focus on his music career, McPherson instead put his energy into finding a treatment for his daughter Rose, who was diagnosed with an ultra-rare, neurodevelopmental condition. The issues he faced in working with academic researchers led him to co-found Everlum Bio, a rare disease lab designed to provide a range of services for ultra-rare disease patients seeking to discover treatments for their conditions. We spoke to McPherson, chief innovation officer of Everlum, about what led him to create the company, its “rare-disease-lab-as-a-service model, and how he is working to change the discovery landscape for ultra-rare disease therapies.…
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1 Why a Topical Cannabidiol Gel May Help Treat the Behavioral Symptoms of Fragile X 20:03
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Fragile X syndrome is a rare, genetic, developmental disorder that is the leading known cause of both intellectual disability and autism spectrum disorder. People with the condition can have a range of behavioral symptoms, such as social avoidance and irritability. Zynerba is developing its experimental therapy Zygel, a topical cannabidiol gel that is delivered into the bloodstream through the skin to treat the behavioral symptoms of Fragile X. We spoke to co-director of the molecular diagnostics section of the Genetic Laboratory at Rush Medical College Elizabeth Berry-Kravis and Zynerba Chairman and CEO Armando Anido, about Fragile X, the company’s experimental therapy Zygel, and why the topical cannibidiol gel may hold promise for treating the behavioral symptoms of the condition.…
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1 An Ultra-Rare Disease Drug Developer Tries to Navigate Regulatory Uncertainty 25:49
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When Stealth Biotherapeutics sought approval for its experimental therapy to treat the ultra-rare and life-threatening condition Barth syndrome, the U.S. Food and Drug Administration said it wouldn’t review its application because the clinical studies the company performed involved too few patients to make a determination about the efficacy of the drug. The notice was part of a history of interactions between Stealth and the FDA that that the company said was characterized by inconsistent guidance as it moved from division to division within the agency. We spoke to Reenie McCarthy, CEO of Stealth, about the challenges the company has faced in seeking FDA approval for its Barth syndrome therapy, the lack of consistency it found within the agency, and why this could have a chilling effect on the development of ultra-rare disease therapies if left unaddressed.…
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1 Powering Cells in People with Rare Mitochondrial Diseases 16:51
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Primary mitochondrial myopathies are a group of rare, often life-threatening disorders caused by genetic mutations that affect the energy needs of skeletal muscles and can impact the ability to walk, lift, or do other everyday activities. High energy tissues like the heart, brain, and muscle are most affected by these disorders. Currently, there are no approved drugs to treat people with these conditions. Reneo Pharmaceuticals is developing an experimental therapy that works by increasing the transcription of genes involved in mitochondrial function, increasing fatty acid oxidation, and promoting the formation of new mitochondria. We spoke to Greg Flesher, president and CEO of Reneo, about mitochondrial myopathies, the company’s efforts to develop an experimental therapy to treat these conditions, and how it works.…
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1 Powering Weakened and Stressed Cells in ALS to Function Better with Nanocrystal Therapy 27:25
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In neurodegenerative diseases like ALS, cells in the brain suffer a decline in their ability to produce energy. These impairments help to drive the progression of these diseases. Clene Nanomedicine is developing a nanocrystal suspension of gold atoms that are small enough to enter mitochondria—the cellular organelles that power activity—to increase two critical energy metabolites to fuel cellular function and counter the disease. The company believes this has the potential to provide functional change to people with ALS and other neurodegenerative conditions. We spoke to Rob Etherington, president and CEO of Clene Nanomedicine, about ALS, the role that the compromised ability of cells to produce energy play in the disorder, and why the company believes its gold nanocrystal therapy has the potential to improve function in people with the condition.…
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1 Developing a New Class of Therapies Based on a Natural Cargo Carrier 29:21
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One of the greatest challenges emerging therapies face is being able to reach the tissues and cells in the body where they need to go to provide benefit. Rather than using viral vectors or lipid nanoparticles, Evox is harnessing exosomes, a natural transporter within the body, to carry therapeutic cargo to desired targets. The company has developed platform technology to modify exosome so it can load therapeutic cargo into them to reach desired organs, the central nervous system, and intractable tissue. We spoke to Tony de Fougerolles, CEO of Evox Therapeutics, about exosomes, the company’s platform technology, and how it is using this approach to target a range of rare diseases.…
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1 Reaching Beyond the Limits of Enzyme Replacement Therapies with Gene Therapies 36:05
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Though enzyme replacement therapies have proven a viable strategy for treating lysosomal storage disorders, one problem is that these medicines face challenges reaching all of the cells throughout the body that are affected by these conditions, particularly in the brain. Avrobio is developing one-and-done gene therapies to treat cystinosis and other lysosomal storage disorders to overcome the limits of ERTs and possibly halt or reverse diseases. We spoke to Geoff MacKay, president and CEO of Avrobio, about cystinosis, the company’s gene therapy platform, and how it's leveraging its technology to develop therapies across a range of rare diseases.…
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1 One Woman’s Journey as a Caregiver to a Husband with Frontotemporal Dementia 26:09
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Around the time Deb Scharper’s husband Tommy turned 38, he became forgetful, started to act odd, and lost interest in his long-time passion of driving and repairing cars. He grew paranoid and eventually suffered a breakdown in which he sought to harm his children and himself. The family had him admitted to a psychiatric facility and he was diagnosed and treated for depression. It would take until he was 44, that he was correctly diagnosed with frontotemporal dementia, a rare and progressive condition. He now receives full time care in a nursing home. We spoke to Scharper about the impact of frontotemporal dementia on her family, her experience as a caregiver, and why she has become an advocate who organizes support groups for other caregivers of people with the condition.…
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1 Treating Rare Endocrine Disorders with Therapeutic Peptides 23:38
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Hypoparathyroidism is a rare condition that is caused by the lack of functional parathyroid glands. The condition can lead to a long list of complications including muscle pain, brain fog, and damage to the kidneys. Amolyt Pharma is developing a therapeutic peptide to treat hypoparathyroidism. We spoke to Mark Sumeray, chief medical officer of Amolyt, about what its like for people living with the condition, why it is difficult to manage with current medical approaches, and why therapeutic peptides offer a compelling approach for hypothyroidism and other endocrine disorders.…
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1 Tackling the Pricing Challenges for Advanced Therapies for Rare Diseases 33:29
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In 2022, three gene therapies for rare conditions won approval in the United States. As these and other advanced therapies make it to market, drug companies and payers need to wrestle with pricing issues, particularly for one-and-done therapies that are potentially curative. We spoke to Alice Valder Curran, partner with Hogan Lovells, about the challenges of value-based pricing for gene therapies, some of the pricing approaches gene therapy developers are employing, and how the existing policy landscape complicates matters.…
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1 Addressing the Current Limitations of AAV Gene Therapies 16:37
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The transformational potential of AAV gene therapies has been limited by challenges of delivering genetic material to the cells where they need to go, gene expression, immunity, and the complexity of manufacturing them. Apertura Gene Therapies is seeking to simultaneously engineering AAV capsids, genetic regulatory elements, and payloads to overcome these limitations. We spoke to Joseph La Barge, CEO of Apertura, about its platform technologies, how they work, and the potential for next-generation gene therapies to transcend the limits of first-generation AAV therapies.…
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1 Examining the Legislative Landscape for Rare Disease Drug Development 29:33
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In October, Alnylam said it would halt development of a therapy for a rare eye disorder to evaluate the impact of the Inflation Reduction Act. The decision is a reflection of the unintended consequences that policies can have on rare disease drug development. We spoke to Amanda Malakoff, executive director of the Rare Disease Company Coalition, about the policy landscape for rare disease therapies, unfinished business from the recent passage of a lean Prescription Drug User Fee Act, and policy priorities for 2023.…
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1 How a Drug Setback Became a Patient Community’s Gain 35:09
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In December 2020, Ovid Therapeutics’ experimental therapy OV101 for the rare, neurodevelopmental condition Angelman Syndrome failed to meet its primary endpoint in a phase 3 clinical trial and the company chose to discontinue development. But rather than let the data from the study languish on the shelf, Ovid made the decision to contribute it to the Angelman Syndrome Foundation’s LADDER database. We spoke to Ovid CEO Jeremy Levin and Angelman Syndrome Foundation CEO Amanda Moore, about the LADDER database, Ovid’s decision to contribute its data to it, and why the two believe other drug developers should take similar steps to share their data with patients and researchers to advance the understanding of rare diseases.…
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1 Helping Regulators and Drug Developers Understand the Challenges of Living with Fabry Disease 25:08
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Fabry disease is a progressive disorder that affects organs throughout the body including the heart, kidneys, and nervous system. People with the condition may suffer for years before obtaining a diagnosis. Jack Johnson, who co-founded the Fabry Support and Information Group, traced Fabry disease back more than five generations in his family. We spoke to Johnson about his own experience with the condition, his journey into advocacy, and a recent externally-led Patient-Focused Drug Development meeting to help regulators and drug developers understand the need for new therapies to address the challenges of living with the disease.…
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1 Addressing Racial Disparities in a Rare Blood Cancer 32:57
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Racial disparities in care and outcomes have been well documented but the problems can be particularly acute in cases of rare, genetic diseases. One example of this is the rare blood cancer cutaneous T-cell lymphoma. African Americans are twice as likely as people of European or Asian descent to develop CTCL, are typically diagnosed with more advanced disease, and have a lower survival rate from the condition. Kyowa Kirin North America, which produces the CTCL treatment Poteligeo, is working to address racial disparities to improve the diagnosis, care, and outcomes of African American patients with CTCL. We spoke to Kyowa Kirin Vice President of Public Affairs Lauren Walrath and Co-Leader of the Immune Cell Regulation and Targeting Program at the Sidney Kimmel Cancer Center at Jefferson Health Pierluigi Porcu, about CTCL, the disparities in care and outcomes for African Americans with the condition, and what they are doing to address that. Porcu is a paid consultant to Kyowa Kirin.…
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1 How New Sequencing Technology Promises to Alter the Diagnostic Odyssey 27:04
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Just three years after Children’s Mercy Research Institute launched its Genomic Answers for Kids program, it reported that it had hit the milestone of providing 1,000 rare disease diagnoses to families. One reason for the success of the GA4K program has been the use of advanced genomic sequencing that captures the full genome and methylome to reveal part of the human genome that has never been clinically tested to interpret changes beyond the genetic code. We spoke to Tomi Pastinen, director of the Genomic Medicine Center at Children’s Mercy Kansas City, about the GA4K program, how new sequencing technology is allowing it to diagnose rare disease patients who previously were undiagnosable, and how it has the potential to alter the diagnostic odyssey for patients with rare, genetic diseases.…
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1 Leveraging Technology to Empower Patients and Decentralize Clinical Trials 25:39
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Health Storylines is a patient-driven, digital platform for people to track and manage their health, but it is also a tool to enable drug and device developers to conduct decentralized clinical trials and gather real-world evidence. Alira Health expanded its digital health offerings with Health Storylines through its acquisition of Self Care Catalysts at the start of 2022. We spoke Gabriele Brambilla, CEO and co-founder of Alira Health, about how the technology provides patients with greater control over their own health, how it is using it to drive decentralized clinical trials and the integration of real-world evidence in the drug development process, and the potential to leverage its Health Storylines platform to answer research questions outside of a traditional clinical study.…
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1 Equipping The Next-Generation Rare Disease Patient Advocate 22:43
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The rare disease patient advocacy organization Global Genes and the rare disease patient data sharing platform RARE-X have agreed to merge, a move they say will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments. Charlene Son Rigby, CEO of RARE-X, will become CEO of the combined organization. We spoke to Son Rigby about the merger, the convergence of her personal and professional lives, and how the combination of the two organization will provide next-generation rare disease advocates the tools and resources they need to accelerate their drive for treatments.…
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1 How a Family Raced from Diagnosis to Experimental Gene Therapy in Three Years 31:59
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Michael Pirovolakis, a four-year-old with the ultra-rare, neurodevelopmental condition SPG50 disease, earlier this year became the first person to be dosed with an experimental gene therapy developed to treat the disorder. The gene therapy was the result of a relentless pursuit by his parents, Terry and Georgia, to raise money and engage scientists and others in the development of a treatment for SPG50. We spoke to Michael’s father and founder of CureSPG50 Terry Pirovolakis and associate professor at UT Southwestern Medical Center Steven Gray, about SPG50, the work to develop and advance an experimental gene therapy for the condition into the clinic, and why Pirovolakis says his work is not yet done.…
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1 How One Advocate Went from Losing His Hearing to Being Heard 41:38
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Matt Hay was a sophomore in college when he began to have problems with his hearing. He soon learned his hearing loss was caused by tumors on his nerves and was diagnosed with the rare condition neurofibromatosis. As a result of the condition, which can cause tumors to grow on nerves throughout the body, Hay has had to undergo 20 surgeries, including one to remove a tumor that blocked 80 percent of his spinal fluid and caused him to lose the ability to walk for a time. His diagnosis started him on not only a personal journey to fight his condition, but on a professional one as well as he became a patient advocate. We spoke to Hay, U.S. Director of advocacy for NF1 at Alexion, about his own journey as someone living with a rare disease, neurofibromatosis, and how his experience led him to become a patient advocate within the biopharmaceutical industry.…
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1 Building a Pipeline of Therapies to Treat Rare Mineralization Disorders 36:37
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ENPP1 deficiency is a rare mineralization disorder that leads to calcification of soft tissue. About half of newborns with the condition will die in the first year of life, while others will live well into adulthood. The condition can cause hearing loss, arterial calcification, and complications involving the heart and brain. There are currently no approved therapies for ENPP1 deficiency. Inozyme is developing a therapy for ENPP1 deficiency and other rare mineralization disorders. We spoke to Axel Bolte, co-founder and CEO of Inozyme, about ENPP1 deficiency, its lead experimental therapy to treat the condition, and its work with Rady Children’s Institute for Genomic Medicine to improve the diagnosis of newborns with the disease.…
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1 Advancing an Oral Alternative to Infused and Injected Therapies for HAE 20:29
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Hereditary angioedema is a rare and potentially life-threatening genetic disease that causes sudden and prolonged swelling to various parts of the body. While there are therapies available today, they require either injection or infusions, carry inconvenient dosing regimens, and can cause undesirable side effects. Pharvaris is developing an oral therapy to treat HAE that it says could provide an effective and more convenient alternative to existing therapies. We spoke to Wim Souverijns, chief community engagement and commercial officer for Pharvaris, about hereditary angioedema, Pharvaris’ efforts to develop a convenient oral alternative to existing therapies, and why it believes it will be able to provide an effective alternative that is safe, tolerable, and convenient.…
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1 Embracing the Promise of Patient-Centered Biotechnology 29:11
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James Geraghty has had an up-close view of the rise of the rare disease drug industry as an entrepreneur, investor, and executive. Now he’s added the additional title of “author” with his new book “Inside the Orphan Drug Revolution.” Geraghty looks back through the past 40 years of his career starting with the passage of the Orphan Drug Act in 1983. We spoke to Geraghty about the catalysts that gave rise to the orphan drug industry, his concerns about the changing rare disease policy landscape, and why he believes it's essential for companies to take a patient-centric approach to drug development.…
When Emily Rapp Black’s son Ronan was diagnosed with the rare and fatal condition Tay-Sachs disease, she turned to writing to make sense of her grief, what his short life would be, and what it meant to be his mother. Her memoir “The Still Point of the Turning World,” was written during Ronan’s life. Eight year’s later she wrote a companion memoir “Sanctuary” in which she explores learning to live after Ronan’s death, coming to terms with her loss, and learning that loss in not something that is overcome but rather absorbed into our beings. We spoke to Black about her two memoirs, her experience as a mother of a child with a rare and fatal disease, how she came to understand the meaning of resilience.…
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1 Using Cryptocurrency to Tap into the Wisdom of Crowds 26:10
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Alok Tayi thinks the biggest obstacle to treating patients with rare diseases isn’t finding potential treatments but funding them. Vibe Bio, a decentralized autonomous organization, is building a community of patient advocates and investors where holders of a crypto currency token Vibe sells each get to vote on how to invest its pool of money in rare disease drug development efforts. Once a decision is made to invest in the development of a therapy, Vibe creates a traditional corporation and uses conventional financing mechanisms. We spoke to Tayi, co-founder and CEO of Vibe Bio, about its approach, why he believes it will lead to the development of therapies that would otherwise go unfunded, and how the company’s decision-making model works.…
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1 A Therapy for a Rare Neurodegenerative Disease Moves Towards Regulatory Review 21:11
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X-linked adrenoleukodystrophy is a rare, inherited, neurodegenerative disease. It is a debilitating and chronic condition that is characterized by progressive weakness, stiffness, and muscle spasms, as well as sensory dysfunction, and incontinence. There is currently no approved treatment. Minoryx raised $51.4 million in May to support the application for marketing approval of its X-ALD therapy in Europe and to support launch preparations. We spoke Marc Martinell, co-founder and CEO of Minoryx, about X-ALD, the company’s experimental therapy leriglitizone, and why it’s being viewed as a potential treatment for other rare CNS diseases.…
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1 Transforming the Treatment of Neuromuscular Diseases with Next-Gen Oligonucleotides 22:45
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Oligonucleotide therapies can target the root cause of many diseases through the modulation of RNA expression and processing. Despite the promise of these medicines, their development has been limited by delivery challenges because they are not able to adequately reach heart and skeletal muscle, the critical affected tissues in neuromuscular diseases. PepGen is advancing next-generation oligonucleotide therapeutics that leverage its delivery platform technology to produce cell-penetrating peptide conjugates that improve the activity and tolerability of oligonucleotide therapies. We spoke to James McArthur, president and CEO of PepGen, about the company’s platform technology for conjugating peptides with oligonucleotides, how this allows it to target hard to reach tissue, and why it opens the potential for new therapies to treat neuromuscular and other diseases.…
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1 Teaching the Immune System to Let Medicines Do Their Job 24:38
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While biologics and gene therapies have altered what it means to have a rare disease for many people, one problem with these treatments is that they can trigger an immune response that can make a patient ineligible for gene therapies or render a medicine ineffective. Selecta Biosciences is developing a platform technology called ImmTOR that trains the immune system with precision not to react to specific antigens and can restore balance to the immune system. We spoke to Carsten Brunn, president and CEO of Selecta Biosciences, about the problem of immunogenicity to biologics, the company’s ImmTOR platform, and how its leveraging that platform with a growing pipeline of biologics and gene therapies.…
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1 Designing Clinical Trials with the Patient in Mind 23:05
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Jenn McNary is a mother of children with rare conditions, as well as an outspoken advocate who has sought to elevate the patient voice in rare disease drug development. She was responsible for the organization of the largest FDA advisory committee hearing in history, with more than 1,000 Duchenne Muscular Dystrophy advocates, families, clinicians, and researchers in attendance. Now, as executive director and head of patient advocacy and engagement for Fulcrum Therapeutics, she’s working to inform company’s clinical trial designs through bringing in patients’ perspectives. We spoke to McNary about her journey as a patient advocate, her role as an advocate within industry, and how her views on the patient voice have evolved.…
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1 Keeping Clinical Trials Running Smoothly 30:41
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Clinical trials can get derailed for a variety of reasons that may have nothing to do with whether a drug works or not. Lokavant has developed an artificial intelligence platform that tracks disparate sources of clinical trials data in real time and through its predicative abilities alert companies to potential problems as they begin to emerge. The company said the system not only saves clinical trial sponsors time and money, but also improves the quality of outcomes. We spoke to Rohit Nambisan, CEO of Lokavant, about the company’s clinical trial data platform, how it works, and the role its system is playing in Ergomed’s Rare Disease Innovation Center.…
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1 A Vision for Patient-Centric Gene Therapy Development 21:51
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Last year, the Retinal Degeneration Fund, a venture philanthropy established by the patient advocacy organization Foundation for Fighting Blindness, spun out Opus Genetics to develop gene therapies to treat rare, inherited, retinal diseases. The patient organization’s then CEO Ben Yerxa, who also headed the RD Fund, recently became the full-time CEO of Opus. We spoke to Yerxa about the genesis of Opus, its gene therapy pipeline, and what other patient organizations looking to take a more hands-on approach to therapeutic development can learn from its example.…
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1 Using Genetic Testing to Address Disparities in Care for Kidney Disease 22:52
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African Americans are four times more likely than Whites to suffer from end-stage kidney disease. In part, that’s because of genetic causes underlying kidney-disease being more common in people of African descent. A recent study suggests that genetic testing and genetic counseling to patients of African ancestry changed behaviors and lowered their risk of developing kidney disease. We spoke to Maggie Westemeyer, a genetic counselor with the clinical genetic testing company Natera, about the genetic risks of kidney disease, racial health disparities, and how genetic testing can be used to address that and improve outcomes for patients.…
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1 Why Reforms to the Accelerated Approval Pathway Threaten Rare Disease Drug Development 35:34
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The U.S. Food and Drug Administration’s Accelerated Approval pathway allows for the use of surrogate endpoints to make therapies more quickly available for unmet medical needs. About 82 percent of the drugs approved under the designation have been for orphan indications. But controversy around its use to win approval for Biogen’s Alzheimer’s disease drug Aduhelm last year set lawmakers off on an effort to reform how the pathway is used and to place new requirements on drugmakers. The healthcare consulting firm Vital Transformation recently did an analysis on the effects potential changes to the Accelerated Approval pathway could have and found that as many as two-thirds of treatments approved this way would no longer reach patients. We spoke to Duane Schulthess, CEO of Vital Transformation, about proposed reforms to the Accelerated Approval pathway, the findings of his firms’ analysis, and why these changes could have dire consequences for rare disease drug development.…
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1 A Longstanding Academic-Nonprofit Collaboration Gives Rise to an ALS Drug Company 26:13
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In February, ProJenX launched to develop novel, brain-penetrant therapies that target defined pathways for the treatment of the rare neurodegenerative condition amyotrophic lateral sclerosis and other brain diseases. ProJenX lead candidate is prosetin, an experimental therapy developed through a collaboration between Project ALS and researchers at Columbia University. We spoke to Stan Abel, CEO of ProJenX, about ALS, the company’s lead therapeutic candidate prosetin, and the company’s ongoing relationship with Project ALS and Columbia University.…
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1 Targeting Regulatory RNA to Upregulate Gene Expression to Treat Rare Diseases 21:16
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Dravet Syndrome is a severe genetic epilepsy characterized by lifelong seizures and neurodevelopmental impairment that starts in infancy. Camp4 is developing an RNA therapy that it believes can reduce the frequency and severity of seizures, or eliminate them, by upregulating a gene that underlies the condition. We spoke to Ann Barbier, chief medical officer of Camp4 Therapeutics, about Dravet syndrome, the company’s platform technology to develop therapies that can upregulate gene expression, and the potential to apply its approach to a broad range of conditions.…
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1 Developing a New Approach to Treat Rare, Autoimmune Conditions 16:54
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Plasmacytoid dendritic cells or pDCs are immune cells that help the body fight infections but in certain chronic autoimmune condition these cells can become continuously activated and cause the body to attack itself. Horizon Therapeutics is developing an experimental monoclonal antibody known as daxdilimab that can get certain immune cells to deplete the pDC and shut down chronic inflammation in these conditions. We spoke to Jodi Karnell, senior director of Research at Horizon Therapeutics, about the role of pDCs in certain autoimmune conditions, how daxdilimab works, and why it may offer a way to address a range of rare autoimmune condition for which there are no approved therapies or that are poorly addressed by existing treatment options.…
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1 Bridging the Gap Between Basic and Commercial Research for Rare Disease 25:11
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As a scientist seeking funding to do rare disease research, Olivier Menzel confronted the lack of interest from funding sources. He eventually created the Blackswan Foundation to support research on any type of rare disease. Since then, the foundation has held scientific conferences, raised awareness about rare disease, and been involved in a large number of projects and collaborations around the world. The foundation also created the RE(ACT) Community, a crowdfunding and knowledge-sharing digital platform that connects researchers, patients, and other rare disease stakeholders. We spoke to Menzel, chairman and founder of the Blackswan Foundation, about the challenges of rare disease research, how it has worked to address common obstacles, and how it is serving as an accelerator to bridge the gap between basic scientific and commercial research.…
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1 Stoking Functional Copies of Genes to Compensate for Mutated Ones 28:47
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Stoke Therapeutics platform technology allows it to target genetic diseases where people have one functional copy of a gene and one mutated copy. As a result, they can only produce half as much protein as they need to maintain health. Stoke seeks to restore missing proteins by increasing the protein output from healthy genes to compensate for the non-functioning copy of the gene. The company’s lead experimental therapy is an antisense oligonucleotide to treat the rare and progressive genetic epilepsy Dravet syndrome. We spoke to Ed Kaye, CEO of Stoke, about the company’s platform technology, how it works, and its lead program in Dravet syndrome.…
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1 Targeting ALS with Synergistic Combinations of Therapies 21:25
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After Alon Ben-Noon had a chance meeting with patient advocate Shay Rishoni, who suffered from the neurodegenerative condition ALS, he was so inspired by the experience that it led to his founding of NeuroSense Therapeutics to find a treatment for the condition. The company is pursuing synergistic combinations of existing therapies to go after biologic targets underlying the core pathologies of the disease. We spoke to Ben-Noon, CEO of NeuroSense, about the company’s approach to developing therapies, its current lead therapeutic candidate, and its efforts to target other neurodegenerative conditions beyond ALS.…
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1 How a Polish Rare Disease Organizations Is Helping Its Ukrainian Neighbors 34:23
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The Russian invasion of Ukraine that began at the end of February has caused more than 5 million people to flee the country as the brutal assault has not spared civilian populations, schools, or hospitals. For people with rare diseases, the war has sent families in search of needed medications and care as they have crossed the border in search of help. Healthcare Education Institute, a Poland-base rare disease advocacy group, has been working to help Ukrainians with rare diseases get across the border, find accommodations, and connect them to medical care. We spoke to Adrian Goretzki, founder and president of the foundation, about the needs of Ukrainians with rare diseases, what his organization has been able to do to help, and why the humanitarian crisis for these rare disease patients will last beyond the current hostilities.…
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1 Powering a New Era of Genetic Medicine 39:05
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Genomics England is working to embed genomics into healthcare, enable research, and improve the diagnosis and treatment of patients. In 2018, it completed enrollment of its first initiative—the 100,000 Genomes Project—and is working on a new initiatives to explore the benefits and challenges of sequencing and analyzing the genomes of newborns. We spoke to Ellen Thomas, clinical director and director of quality for Genomics England, about the outcomes from the 100,000 Genomes Project, its Newborn Genomes Programme, and the potential for genome sequencing to alter the diagnostic odyssey for people with rare disease…
Many people living with a rare and undiagnosed disease face a prolonged diagnostic odyssey that can be financially and emotionally taxing as they seek to put a name to what ails them. Co-founder and executive director of the Rare and Undiagnosed Network Gina Szajnuk and Co-founder and acting executive director of the Undiagnosed Diseases Network Foundation Cristina Might, both know what the search for a diagnosis is like and are working to help people find answers faster. Ahead of Undiagnosed Rare Disease Day April 29, we spoke to Szajnuk and Might about their own diagnostic odysseys, efforts to speed the path to a diagnosis, and the upcoming Undiagnosed Rare Disease Day.…
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1 A Novel Way to Deliver Rare Disease Therapies 25:24
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One of the challenges of delivering enzyme replacement and other therapies to treat rare diseases is the questions of how to best deliver them. EryDel is developing therapies that can be encapsultated in a patient’s red blood cells through its proprietary, point-of-care device. We spoke to Luca Benatti, CEO of EryDel, about the company’s technology for encapsulating medicines in red blood cells, its pipeline of rare disease therapies, and the advantages delivering treatments this way.…
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1 Bringing Diversity, Equity, and Inclusion to the Books We Read 19:37
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Mary Mecham, a mother of two children with rare genetic disorders to whom she reads every day, grew frustrated by the lack of books that had characters who resembled her children. She began to search for stories that featured people with disabilities and met authors with disabilities who wrote about their own struggles. To share these works, she created Disability Book Week, which runs from April 23 to 29. We spoke to Brianna TenBrink, autism advocate and Disability Book Week panelist, about the portrayal of people with disabilities in literature, how that’s changing, and some good reads to consider for anyone interested in participating.…
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1 From Mila to Millions: Scaling N of 1 Therapies 56:05
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When Julia Vitarello learned that her daughter Mila had the CLN7 form of the deadly, neurodegenerative condition Batten disease, it set her off on a search for a treatment that resulted in the development of a customized antisense oligonucleotide. In the wake of Mila’s case, a movement has emerged to develop so-called N-of-1 therapies for people with ultra-rare conditions. Vitarello, along with Boston Children's Hospital researcher Timothy Yu, who developed the ASO to treat Mila, has co-founded the N=1 Collaborative, an international group seeking to enable the development of N-of-1 therapies to treat the thousands of patients in need. We spoke to Vitarello, CEO of Mila’s Miracle Foundation and co-founder of the N=1 Collaborative, about the new organization, the issues it is trying to address, and what it would take to take enable the development of individualized therapies broadly for patients with ultra-rare disease.…
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1 Genetically Modifying Patients’ Skin Cells to Treat Rare Diseases 24:51
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Recessive dystrophic epidermolysis bullosa is a rare, genetic, progressive condition caused by the deficiency of collagen type VII. People with severe cases of the condition suffer from blistering, vision loss, disfigurement, and other serious medical problems. Castle Creek Biosciences is developing a therapy that involves genetically modifying a patient’s own fibroblasts—the cells in the connective tissue—to get them to produce collagen VII. The modified cells are injected where needed and can be dosed repeatedly. We spoke to Matthew Gantz, president and CEO of Castle Creek, about the company’s experimental therapy for RDEB, how it works, and how the company is building out its pipeline through dealmaking.…
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1 Targeting Rare, Immunologic Disorders 26:20
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Aristea Therapeutics was spun out of AstraZeneca to develop medicines for rare, immunologic disorders. Its lead program in development is an experimental therapy for a rare skin condition that causes repeated outbreaks of painful pustules on the hands and feet and is being looked at for other neutrophil-mediated diseases. We spoke to James Mackay, president and CEO of Aristea, about the decision to form the company, its lead therapy in development, and its collaboration and development deal with Arena Pharmaceuticals that gives its partner an option to acquire it outright.…
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1 Harnessing a Natural Mechanism to Silence Disease 26:40
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RNA interference offers the potential disrupt the translation of instructions from genes with mutations into proteins that drive diseases. Silence Therapeutics is developing a pipeline of therapies based on its mRNAi Gold platform that allows it to target short interfering RNAs to liver cells. We spoke to Mark Rothera, who at the time served as CEO of Silence Therapeutics and Giles Campion, Silence’s chief medical officer and head of R&D, about the company’s platform technology, why it can be used to target a broad range of genetic diseases, and the company’s programs in development. Since recording this podcast, Rothera stepped down as CEO and the company named Craig Tooman, who had served as CFO of the company since January 2021, as its new president and CEO.…
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1 Advancing Precision Medicine with Patient Data 21:48
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While advances have been made in the treatment of the rare blood cancer multiple myeloma, fundamental questions about how to optimize therapies for individual patients remain. The Multiple Myeloma Research Foundation launched CureCloud, an initiative to gather detailed genomic and health data from thousands of patients to both bring a precision medicine approach to the treatment of multiple myeloma and fuel the development of new breakthroughs. We spoke to Michael Andreini, president and CEO of the Multiple Myeloma Research Foundation, about the CureCloud initiative, the patient data it is gathering, and the potential to transform the treatment of multiple myeloma with precision medicine.…
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1 Pregnancy and Motherhood for a Woman with SMA 32:22
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Carli Hamilton was diagnosed at age 2 with the degenerative neuromuscular disease spinal muscular atrophy. Though she wanted to be a mother once she got married, she feared passing the disease onto a child. She and her husband had genetic counseling to see if he was a carrier, but when her best friend became pregnant and told her that it was the hardest thing she had ever done and didn’t think Hamilton would be able to do it, she and her husband figured they would adopt. Nevertheless, Hamilton soon learned she was pregnant and today her daughter is 2. Hamilton, who has chronicled her pregnancy and motherhood on Instagram, discussed what pregnancy was like, how she handles the physical demands of motherhood, and what advice she would offer other SMA patients thinking of becoming pregnant.…
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1 Steps to Improve Data Gathering of Rare Diseases 43:51
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The authors of four separate studies on the economic burden of rare diseases recently collaborated on piece in Health Affairs calling for concrete steps to address gaps in data that make it difficult to track rare diseases in the healthcare system. Though the authors came to similar conclusions in their reports, they were also stymied by existing data constraints, such as a lack of codes for rare diseases, differing data structures of electronic health records, and missed opportunities to gather data through public health surveys. We spoke to Joni Rutter, acting director of the National Center for Advancing Translational Sciences; and Annie Kennedy, chief of policy and advocacy for the Everylife Foundation for Rare Diseases, about the economic burden of rare diseases, the data constraints that limit a complete understanding of the impact they have, and what steps can be taken to improve the availability of patient data.…
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1 Rare Patients Learn to Make Their Voices Heard 27:53
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Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to learn about federal legislative issues, meet other advocates, and share their stories with legislators. Because of ongoing concerns about the pandemic, this year’s event will be conducted virtually. We spoke to Britta Dornan, senior director of communications and marketing for the EveryLife Foundation and Sarah Tompkins, advocacy chair of Rare Disease Week on Capitol Hill 2022, about this year’s event, why rare disease patients should consider getting involved in legislative advocacy, and how rare disease patients and caregivers can best tell their stories to lawmakers.…
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1 Empowering Patient Organizations with Real-World Data 37:18
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One of the challenges various healthcare stakeholders face is making decisions based on limited and lagging data about the changing landscape. Komodo Health has collected a broad range of real-world data that allows it to capture a comprehensive view of patients moving through the healthcare system along with next-generation analytics to derive meaningful insights and drive decisions that improve patient outcomes. The company recently announced that it had entered into an agreement with the Chan Zuckerberg Initiative’s Rare As One network to provide software and analytic tools to help patient advocacy organizations in the network accelerate diagnoses, improve care, and advance research. We spoke to Web Sun, co-founder and president of Komodo Health, its platform technology, its potential to improve decision-making in the healthcare arena, and how members of CZI’s Rare As One network will be able to leverage its real-word data and analytic tools.…
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1 A Healthcare Communications Student Gets an Education as a Patient 42:12
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When Carly Flumer was 27 and working on her master’s degree in healthcare communication, she was diagnosed with thyroid cancer. Though she was successfully treated for the cancer, she now must live with the consequences of having had her thyroid removed, which requires lifelong care and treatment. The experience turned Flumer into a patient advocate as she has sought to share her story with others. We spoke to Flumer about her cancer journey, her experience in dealing with physicians who often spoke to her in terms she didn’t understand, and what she’d like other rare disease patients to learn from her experience.…
Mammoth Biosciences is developing next-generation CRISPR products using alternatives to the Cas9 enzyme to read and write genetic code. The company, co-founded by Nobel laureate and CRISPR co-inventor Jennifer Doudna, is applying the technology broadly beyond therapeutics to include not only diagnostics, but agriculture, environmental monitoring, and biodefense. We spoke Trevor Martin, co-founder and CEO of Mammoth Biosciences, about the use of CRISPR as a diagnostic tool, the advantages alternatives to Cas9 may offer, and the company’s recently announced alliance with Vertex. Since recording this interview, Mammoth entered into a strategic collaboration with Bayer to use its CRISPR systems to develop in-vivo gene-editing therapies. That deal includes a $40 million upfront payment and more than $1 billion in potential milestones.…
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1 Marrying Antibodies to RNA Therapies to Target Previously Inaccessible Tissues and Cells 18:36
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Antibody oligonucleotide conjugates are a new class of therapies that Avidity Biosciences is developing. These therapies combine the specificity of monoclonal antibodies with the precision of oligonucleotides. The company says by marrying these technologies together it is able to deliver RNA therapies to previously inaccessible tissue and cell types and more effectively target the underlying genetic drivers of diseases. The company is focused initially on muscle diseases but expects to expand out from there. We spoke to Sarah Boyce, CEO of Avidity Biosciences, about its antibody oligonucleotide conjugate platform, how its AOCs can deliver RNA therapies to tissue and cell types that were previously inaccessible, and it lead program in myotonic dystrophy type 1.…
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1 Expanding Access to Whole Genome Sequencing Across the Globe 22:00
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Illumina and the global nonprofit Genetic Alliance late last year unveiled the iHope Genetic Health program, which is aimed at providing whole-genome sequencing to patients across the globe impacted by genetic disease. At least half of iHope Genetic Health’s efforts will be focused on areas of the world in need outside the United States with more than one-third of Illumina’s support being dedicated to patients in Africa. Through the program, Illumina will enable Genetic Alliance to create networks of clinics, and laboratories equipped with the necessary genome technology to provide precision genomic diagnoses to patients suffering from rare genetic disease. We spoke to Ryan Taft, vice president of scientific research for Illumina, about the growing case for expanded use of genome sequencing as a diagnostic tool, the iHope Genetic Health program, and its efforts to expand use of the technology in low- and middle-income communities around the globe.…
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1 A First-in-Class Approach to Treating a Rare and Chronic Liver Disease 37:36
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Primary biliary cholangitis is a rare, chronic, progressive, autoimmune disease of the liver. People with the condition suffer from inflammation, destruction of the intrahepatic bile ducts, and accumulate toxic bile acids that cause damage over time. The condition can lead to fibrosis, cirrhosis, and liver failure. CymaBay Therapeutics is developing an experimental therapy, Seladelpar, as a treatment for PBC. We spoke to Sujal Shah, president and CEO of CymaBay Therapeutics about PBC, Seladelpar, and why this first-in-class therapy has promise to address this condition with high unmet needs.…
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1 How a Familiar Face Can Lead to a Rare Disease Diagnosis 22:39
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Many rare diseases cause unique changes to facial features that can provide insights for doctors seeking searching for a diagnosis. Researchers at Children’s National Hospital have developed software uses machine learning technology and images captured with a cellphone to quickly recognize disease patterns not immediately obvious to the human eye to help physicians accelerate the diagnosis of genetic syndromes by recommending further investigation or referral to a specialist in seconds. We spoke to Marius George Linguraru, who led the Children's National team that developed the digital biometric analysis software, about the diagnostic tool, how it works, and a deal with a newly formed company to commercialize the technology.…
Advances in communication, information, and monitoring technologies have enabled the advent of decentralized clinical trials, but the COVID-19 pandemic crystalized the interest of regulators and trial sponsors. In fact, most biopharmaceutical companies today now expect to use elements of decentralized clinical trials in studies going forward. Science 37 is providing a software platform to enable decentralized clinical trials and offering a range of services on top of that to meet the needs of trails sponsors. We spoke to Jonathan Cotliar, chief medical officer of Science 37, about the move toward decentralized clinical trials, how technology is changing the types of data that can be gathered, and how it is forever reshaping clinical trials.…
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1 Targeting Rare and Chronic Kidney Diseases 23:33
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Chronic kidney diseases represent a growing worldwide problem with a lack of effective treatments. An improved understanding of the biology of kidney disease is fueling growing drug development activity. Chinook Therapeutics is focused on rare, severe chronic kidney diseases with well-defined clinical pathways. Its lead clinical program, atrasentan, is in a late-stage study in IgA nephropathy, a leading cause of chronic kidney disease. We spoke to Tom Frohlich, chief operating officer of Chinook, about rare kidney diseases, the company’s lead therapeutic candidate, and its plans for commercialization.…
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1 Addressing the Delivery Challenges of Genetic Medicines 35:18
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While genetic medicines promise to transform the way rare diseases are treated, one of the greatest challenges to realizing the full potential of these new therapies is the delivery of them to the cells within the body where they must go to be effective. James Dahlman, associate professor in the Department of Biomedical Engineering at Georgia Tech and Emory University, has been working to address this issue through the development of nanoparticles that could serve as vectors. We spoke to Dahlman about the delivery challenges of genetic medicines, how nanoparticles compare to viral vectors, and what it takes to develop new vectors that can deliver genetic medicines to where they need to go. This episode is part of our ongoing Platforms of Hope series that explores advances in gene therapy and gene editing.…
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1 Targeting Tissues Throughout the Body with RNA Therapies 21:22
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RNA therapies offer great promise for addressing rare genetic diseases by disrupting the translation of pathogenic genes into disease-causing proteins or getting the body to produce a needed protein it lacks. But the challenge of delivering these therapies to tissue where they need to go to be effective has limited the diseases that have been treated with these therapies to date. DTx Pharma has developed platform technology to address the challenges of delivering RNA therapeutics and is building a pipeline of RNA therapies. We spoke Arthur Suckow, co-founder and CEO of DTx, about the delivery challenge of RNA therapies, how DTx’s platform technology addresses these, and how a $100 million financing from earlier this year will be used to fuel its growth.…
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1 Delivering Rare Disease Therapies to Patients in Need 20:54
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When Genzyme won approval for an enzyme replacement therapy for Gaucher disease in 1991, the company launched a humanitarian aid program for rare diseases. Now as part of Sanofi, the pharmaceutical company has continued and expanded the program, which now includes five different lysosomal storage disorders, as well as rare blood disorders. We spoke to Bill Sibold, executive vice president of Sanofi Genzyme and president of Sanofi North America, about the company’s Humanitarian Aid Program, how it works; and how it overcomes the regulatory, infrastructure, and medical challenges of delivering these treatments to patients around the globe.…
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1 An Advocate's Journey through Diagnosis, Loss, and Hope 23:44
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Ashley Walker spent the first 20 years of her life misdiagnosed as having a form of muscular dystrophy. It was only after her twin sons Alexander and Jayden suffered severe respiratory complications following their birth that she and her boys were all diagnosed with X-linked myotubular myopathy, a rare neuromuscular disease. Though the condition predominantly affects males, female carriers like Walker can also experience symptoms that can range from mild to debilitating, and even life-threatening. Her sons died eight years ago, a little more than a year after being born. Today, Walker is unable to work and requires breathing assistance at night, but she has become a patient advocate, and works to raise awareness about the disease known as XLMTM and the need for treatments. We spoke to Walker her own rare disease journey ahead of an externally-led XLMTM Patient-Focused Drug Development meeting, what life with XLMTM is like, and her hopes that new treatments are not far away.…
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1 Using Model Systems to Find Drugs to Repurpose for Rare Diseases 20:25
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The use of model system, such as fruit flies and worms, to screen existing drugs for their potential to treat rare genetic diseases offers a relatively fast and economic method to find candidates for repurposing. The success at screening 4,000 compounds in a worm model of the neurodegenerative disease ALS to identify a candidate that is now in human clinical testing gave rise to Modelis, a Canadian company that is now repeating the exercise in other rare diseases. We spoke to James Doyle, CEO of Modelis, about model system, how the company creates genetic avatars of patients; and how it works with rare disease drug developers, patient organizations, and patients to identify candidates for repurposing.…
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1 How a Small and Young Foundation Catalyzed Research into a Rare Disease 23:54
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Charcot-Marie Tooth disease is a rare, genetic nerve condition that affects 150,000 Americans and nearly 3 million people around the world. Though the condition was first medically recognized in 1886, it is without an approved therapy. The CMT Research Foundation has been seeking to change that by addressing barriers to the development of therapies for CMT. We spoke to Susan Ruediger, founder and CEO of CMT Research Foundation, about its efforts to catalyze drug development for CMT, what it’s done to address obstacles, and some of the partnerships it has established to advance the development of treatments and potentially a cure.…
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1 Overcoming the Limitations of Conventional Cell Engineering 30:35
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DNA-modified cells can behave unpredictably in the body and there is a risk that they could proliferate uncontrolled, cause severe toxicities, and even survive unchecked for months or years. Cartesian uses its platform technology to engineer RNA into cells, making time-controlled changes. The company is developing treatments for cancer, respiratory conditions, and autoimmune diseases such as myasthenia gravis. We spoke to Murat Kalayoglu, president and CEO of Cartesian, about its RNA-engineered cell therapies, how they work and how the company is pushing the use of cell therapies beyond cancer.…
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1 Experimental Therapy for Rare Endocrine Disorder Offers Hope of Improved Care 20:20
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Classic congenital adrenal hyperplasia, or CAH, is a potentially life-threatening rare genetic disorder characterized by an inability to produce the stress hormone cortisol while causing excess production of androgens, or male sex hormones. The condition has long-been treated with steroids, but about 70 percent of patients with the condition have poorly controlled disease. The problem is that it is difficult to give someone with CAH enough steroids to control the androgens without causing problems such as weight gain, increased blood sugar, and high cholesterol. As a result, doctors often underdose patients. Spruce Biosciences is developing an experimental therapy called tildacerfont, a non-steroidal therapy that binds to a receptor on the pituitary glands to limit the production of adrenal androgens and address that aspect of the disease. We spoke to Richard King, CEO of Spruce Biosciences, about CAH, how tildacerfont works, and what the company is doing to build a pipeline of other rare endocrine therapies behind it.…
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1 Forging Gene Therapy Capacity and a Pipeline at the Same Time 18:49
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The imbalance between the supply and demand for gene therapy manufacturing capacity is creating opportunities for contract development and manufacturing organizations. Forge Biologics is seeking to leverage its expertise in AAV gene therapy as a CDMO while developing its own pipeline of experimental gene therapies. We spoke to Tim Miller, co-founder and CEO of Forge Biologics, about the company’s hybrid business model, how it hopes to differentiate itself through its shared experience with its customers, and its emerging pipeline of gene therapies to treat rare diseases.…
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1 Using A Natural DNA Repair Process to Improve Genetic Medicines 26:34
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Precision, safety, and durability are challenges for gene replacement and gene editing therapies. LogicBio Therapeutics says its GeneRide platform technology addresses these challenges by harnessing a natural DNA repair process. We spoke to Daniel Gruskin, chief medical officer of LogicBio, about the company’s platform technology, the advantages it provides, and the company’s lead experimental therapy for the rare metabolic condition methylmalonic acidemia.…
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1 Empowering Rare Disease Patients with their Own Health Records 22:40
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Health records can be a rich source of data that can help provide an understanding of a rare disease and drive the development of therapies to treat them. But the siloing of this data, the use of inconsistent terminology, and the unstructured nature of aspects of these records all stand as barriers to harnessing their potential. The consumer health technology company Ciitizen is working to give patients greater control over their own health data and enable its sharing with researchers and providers. We spoke to Nasha Fitter, vice president of rare disease for Ciitizen, about her own experience as a mother of a child with a rare neurologic condition, her work as a rare disease advocate, and a collaboration between a group of rare neurologic disease advocacy organizations to build a natural history study on the Ciitizen platform.…
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1 Targeting CNS Disease with Gene Therapies 40:40
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The translational challenges of moving an experimental therapy from the lab to the clinic can stall the development of life-saving therapies, but Passage Bio has provided a unique solution to that challenge. The company’s strategic collaboration and licensing agreement with the University of Pennsylvania’s Gene Therapy Program leaves the discovery and preclinical work in the hands of Penn researchers and provides it with enhanced access to a broad portfolio of gene therapy candidates and future innovations. The company has built a pipeline of gene therapy candidates targeted central nervous system disorders. We spoke to Bruce Goldsmith, CEO of Passage Bio, about the company’s relationship with Penn’s Gene Therapy Program, its focus on CNS conditions, and the company’s lead program in the rare lysosomal storage disorder GM1 gangliosidosis.…
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1 A New Approach to Treating a Rare Endocrine Disorder 28:41
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Most endocrinologists focus on the level of corticosteroids circulating in the bloodstream when treating conditions like the rare endocrine disorder Cushing syndrome. Sparrow Pharmaceuticals believes it is active intracellular steroids that are primarily responsible for causing toxicity in patients. It is developing therapies that target HSD-1, the key regulator of active intracellular steroids. We spoke to David Katz, founder and chief scientific officer of Sparrow Pharmaceuticals, about the company’s efforts to develop new approach to treating Cushing syndrome, how it works, and why this has the potential to address the unmet needs of patients with endogenous Cushing syndrome.…
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1 Detecting Genetic Disease Prior to Birth 29:01
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The advent of noninvasive prenatal testing allow for the use of a simple blood draw from a pregnant woman to tests fetal DNA for genetic conditions. As with liquid biopsies, these test rely on capturing cell-free DNA from the fetus circulating in the mother’s blood. We spoke to Paul Billings, chief medical officer for Natera, about the state of non-invasive prenatal testing, the growing use of these tests, and the range of conditions they can detect.…
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1 Turning Words into Action: Equity, Diversity, and Inclusion in Rare Disease 44:56
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The growing concerns about equity, diversity, and inclusion has had particular resonance in the area of rare disease, where health disparities have been felt throughout the community. Eve Dryer, vice president of patient advocacy for Travere Therapeutics, has been involved in a number of efforts to address these issues and her company has played a critical role in funding initiatives to address health disparities that result from racial and socioeconomic drivers. On the heels of the recently completed Global Genes 2021 RARE Health Equity Summit, we spoke to Dryer about why Travere has focused on these issues, the work it is doing, and why it is such a critical issue for the rare disease community.…
Many gene therapy companies seek to exploit a platform technology or leverage a specific vector. Rocket Pharmaceuticals is pursuing a multi-platform pipeline of treatments that directly target the genetic mutation underlying rare, childhood disorders. We spoke to Gaurav Shah, CEO of Rocket, about the companies approach to gene therapy, the conditions it’s targeting, and how it determines what gene therapies it will pursue.…
When someone receives a diagnosis of a rare disease, they often find themselves in a strange land with no roadmap. The Tuberous Sclerosis Complex Alliance is helping patients with TSC better manage their condition with the TSC Navigator, an online tool intended to guide individuals and families through the complexities of TSC across their lifespans and live fuller lives. We spoke to TSC Alliance CEO Kari Rosbeck and TSC Alliance Director of Medical Affairs Ashley Pounders, about the TSC Navigator, the thinking behind it, and why it could serve as a model for other patient organizations to follow.…
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1 A Popular Cancer Target Is Eyed for a Rare Immune Disorder 20:58
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PI3K inhibitors have been an area of great interest for drug developers targeting cancers, but they’ve been difficult to turn into promising drugs due to safety concerns and a lack of efficacy in clinical trials. Pharming, though, believes PI3K can be a valuable target to treat APDS, a rare, immune condition. The company is working to develop Leniolisib, which it licensed from the drug giant Novartis in 2019. We spoke to Anurag Relan, chief medical officer of Pharming, about APDS, the role its PI3K inhibitors can play in treating the condition, and why these drugs may have broader use in autoimmune and inflammatory diseases.…
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1 Leveraging a Gene Therapy Approach to Maximize Speed and Minimize Costs 45:49
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While gene therapies hold great promise for patients with rare genetic diseases, one obstacle for ultra-rare conditions is that drug developer may view patient populations as being too small to make the development of a gene therapy economically viable. Taysha Gene Therapies, through its partnership with UT Southwestern, is rapidly developing a robust pipeline of gene therapies that leverage the same vector, manufacturing, and course of administration to enable the company to pursue indication that might not otherwise be feasible. The approach shows how rare disease patient advocates, academic researchers, and biotechnology companies can collaborate to enable treatments that would not otherwise be developed. We spoke to R.A. Session II, founder and CEO of Taysha Gene Therapies, about the origins of the company, its unique relationship with gene therapy innovator Steve Gray and UT Southwestern, and the critical role patient organization have played in the process.…
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1 Programing the Body to Make Its Own Medicine with Gene Therapy 37:03
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Most people think of gene therapies as a way to replace a mutated gene with a copy that functions properly. But gene therapies are also being developed as a way to get the body to produce therapeutic proteins. AbbVie in September announced a strategic partnership with RegenxBio to develop and commercialize the company’s experimental gene therapy for wet age-related macular degeneration and other eye conditions. The one-time treatment, delivered to the eye, encodes for an antibody fragment designed to inhibit VEGF like the antibodies ophthalmologists regularly inject into the eyes of patients to treat the condition. We spoke to Ken Mills, CEO of RegenxBio, about wet-age macular degeneration, the company’s collaboration with AbbVie, and the potential to use gene therapy to alter the way patients with this and other eye conditions are treated.…
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1 Developing in Vivo Gene Editors that Target Liver Diseases 18:48
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While gene editing therapies promise to dramatically change the way that rare genetic diseases are treated, one challenge has been to find ways to deliver them directly into the body rather than first altering a patient’s cells in the lab and reinfusing them. iECURE is developing mutation agnostic in vivo gene editing therapies to address liver diseases. The company has exclusive licensing rights to three liver disorder programs from the University of Pennsylvania’s Gene Therapy Program and an option to license more than 10 additional candidates. We spoke to Joe Truitt, CEO of iECURE, about its in vivo gene editing therapies, its focus on liver diseases, and how it’s leveraging its partnership with Penn’s Gene Therapy Program.…
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1 A Find-and-Replace Approach to Fixing the Mutation Underlying Sickle Cell Disease 31:12
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Gene editing is an emerging therapeutic area that promises to correct the underlying genetic causes of diseases. Graphite Bio is readying to enroll its first patient in a phase 1/2 clinical study of its experimental gene editor GPH101 to correct the mutation in the beta-globin gene that drives sickle cell disease. Though the condition can manifest itself differently from patient to patient, it can cause painful episodes due to the clumping of sickle-shaped blood cells that obstruct blood flow in small blood vessels, as well as other acute complications including stroke and infections that can contribute to early mortality in these patients. We spoke to Josh Lehrer, CEO of Graphite Bio, about the company’s experimental sickle cell gene editing therapy, how it works, and what makes it a next-generation gene editor.…
Homology Medicines is developing a range of genetic therapies based on a unique set of adeno-associated virus vectors derived from human hematopoietic stem cells that allow it to target a wide range of tissues. It is developing both gene therapies and gene editors simultaneously using these vectors. It’s lead program is an experimental gene therapy for phenylketonuria or PKU, a rare, genetic metabolic condition that causes an enzyme deficiency that results in an inability to breakdown the amino acid phenylalanine, which is common in protein containing foods. We spoke to Arthur Tzianabos, CEO of Homology Medicines, about the company’s genetic therapies, its program in PKU, and how it pairs its vectors and approach to meet the needs of a given condition.…
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1 How a Rare Diagnosis Impacts a Family 50:21
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Jon and Shirley Dicks’ daughter Elle first started developing problems swallowing when she turned 10 months old. As her difficulty eating progressed, she stopped growing. Her parents grew frustrated by doctors dismissing her symptoms until a passing comment that she seemed to have a sensitivity to light allowed a specialist to diagnose her with the rare, lysosomal storage disorder cystinosis. We spoke to the Dicks about Elle’s diagnostic odyssey, how having a diagnosis changed care for her, and the challenges they have faced caring for a child with a rare condition.…
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1 Transforming the Rare Disease Landscape with Data 30:50
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The ability to diagnose and treat rare diseases begins with data. The growing awareness about the need to collect data and do so in ways that are meaningful and usable to research and drug development communities, has mobilized a number of efforts to capture and make patient data available. AllStripes, formerly known as RDMD, completed a $50 million venture round in August to help it launch 100 new rare disease research programs. We spoke to Nancy Yu, co-founder and CEO of AllStripes, about the growing efforts around the collection of patient data, where AllStripes fits into this emerging landscape, and how data can transform the outlook for diagnosing and treating people with rare diseases.…
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1 Creating a Playbook for Bespoke Gene Therapies 32:46
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While there is a steady stream of new gene therapies expected to be approved in the next decade, there are hundreds of diseases that could benefit from gene therapies but are not pursued by drug developers because they affect too small a population to be considered commercially viable. In an effort to change the economics of gene therapy for ultra-rare diseases, the Foundation for the National Institutes of Health is establishing the Bespoke Gene Therapy Consortium under its Accelerating Medicines Partnership program. The proposed five-year, $102.5 million program involves the National Institutes of Health’s National Center for Advancing Translational Sciences, the U.S. Food and Drug Administration’s Center for Biologics Evaluation and Research, and a group of commercial gene therapy developers. We spoke to P.J. Brooks, deputy director of the Office for Rare Diseases Research at NCATS and one of the architects of the program, about the need it is trying to address, why it is looking beyond translational science to issues including manufacturing and regulation, and how it hopes to accelerate the development of gene therapies for rare diseases. This episode is part of our ongoing Platforms of Hope series that explores advances in gene therapy and gene editing.…
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1 Finding Answers for Undiagnosed Patients with Rare Genetic Diseases 25:16
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Despite the ability of whole genome sequencing to diagnose patients with rare genetic disease, the technology still leaves many patients without a clear diagnosis. Rady Children’s Institute for Genomic Medicine, which has innovated the use of rapid whole genome sequencing in the neonatal and pediatric ICU, is now working to diagnosed patients left undiagnosed by whole genome sequencing with long-read whole genome sequencing through a collaboration with Pacific Biosciences. We spoke to Matthew Bainbridge, principal investigator and associate director of clinical genomics at Rady Children’s Institute for Genomic Medicine, about the collaboration, how long-read sequencing differs from traditional whole genome sequencing, and why this is helping to find answers for undiagnosed patients with rare genetic diseases.…
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1 A New Therapy Offers A Different Approach to Inhibiting the Complement System 21:15
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Earlier the month the U.S. Food and Drug Administration approved Apellis Pharmaceuticals Empaveli to treat paroxysmal nocturnal hemoglobinuria (PNH), a rare and life-threatening condition in which the body’s immune system destroys the oxygen carrying red blood cells. Like existing treatments Soliris and Ultomiris, Empaveli works to inhibit the complement system, but it is the first therapy to target the portion of this immune cascade known as C3. We spoke to Cedric Francois, co-founder and CEO of Apellis, about Empaveli, what advantages it may provide over existing therapies for PNH, and other indications the company will pursue for this medicine.…
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1 Bringing Aberrant Proteins Back into the Fold 22:28
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In some diseases, such as lysosomal storage disorders, proteins are unable to serve their normal functions because they become misfolded. While some approaches, such as enzyme replacement therapies, have been used to treat these conditions, they can have significant limitations. Gain Therapeutics has developed a platform for using small molecule therapies to return proteins to their proper shape and restore their function. We spoke to Eric Richman, CEO of Gain Therapeutics, about its platform technology, how it works, and why it offers a compelling alternative to other approaches to treating lysosomal storage disorders.…
Mouse models can play an essential role in allowing researchers to understand rare diseases and develop drugs to treat them. Cat Lutz, senior director of mouse repository and in vivo pharmacology genetic resource science at The Jackson Laboratory, researches mice as a model for human neurodegenerative disease. The lab’s mouse repository and Rare and Orphan Disease Center today features more than 12,000 unique strains including more than 1,700 live colonies that are distributed to the scientific community. We spoke to Lutz about the role mouse models play in rare disease research, how new gene editing technologies are changing the development of mouse models, and why new technologies are unlikely to displace their use anytime soon.…
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1 Putting the Patient at the Center of Rare Disease Clinical Trials 22:58
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The recruitment of patients for rare disease clinical trials can be challenging because of issues such as small patient populations and their geographic dispersity, but the failure to take a patient-centric approach in designing trial protocols can add to the difficulties sponsors face in conducting such studies. The Center for Rare Diseases at PRA Health Sciences recently issued a toolkit focused on patient-centric trial development for sponsors, participants, and advocates. We spoke to Scott Schliebner, senior vice president and head of the Center for Rare Diseases, about designing patient-centric clinical trials, why it matters, and what sponsors can do to stay focused on patients.…
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1 Creating a Toolkit to Accelerate the Development of Gene Editing Therapies 32:50
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The advent of genome editing is creating the potential to correct the underpinnings of genetic diseases by rewriting the mutations that cause them. Before these emerging technologies can be put to use to treat and cure genetic diseases broadly, a number of challenges must be overcome. These include such things as validating new gene editing technologies, finding ways to deliver them precisely to the right cells and tissues in the body, and developing means to detect off-target effects. The National Institutes of Health created the Somatic Cell Genome Editing program to address broad challenges of gene editing with the goal of accelerating the development of new therapies for a wide range of condition through the creation of a toolkit that could be made available to biomedical researchers. We spoke to Erik Sontheimer, co-chair of the Somatic Cell Genome Editing Consortium's steering committee, about the program, the challenges it is seeking to address, and it potential to accelerate the development of a new generation of genetic medicines. Thanks to Pfizer, Inc ., Bluebird , and Novartis Gene Therapies for their support of this podcast, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.…
PTC Therapeutics, through its partnership with the SMA Foundation and Genentech, won approval last year for Evrysdi, the first oral therapy for the rare neurodegenerative condition spinal muscular atrophy. Now, the SMA Foundation is working with the company to discover and develop regenerative treatments that can reverse the damage done by the disease. At the same time, the company is advancing its effort on the gene therapy front following its 2018 acquisition of Agilis Biotherapeutics. We spoke to Matthew Klein, chief development officer for PTC Therapeutics, about the company’s work in SMA, its move into regenerative medicine, and its efforts to win approval in Europe and the United States for its first gene therapy.…
Chandler Crews was born with the rare, genetic condition achondroplasia, the most common form of dwarfism. In 2010, she decided to undergo a series of limb lengthening surgeries, which over a four-year period increased her height to 4’ 11” from 3’ 10.” We spoke to Crews, founder and president of the nonprofit patient organization The Chandler Project, about her experiences living with the condition, her decision to undergo the surgery, and how she views new therapies working their way through clinical development that seek to promote growth in people with achondroplasia.…
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1 Everything’s up to Date in Kansas City, at Least When It Comes to Genomics 27:40
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Children’s Mercy Research Institute has been expanding its efforts to understand the genetics underlying rare diseases. Earlier this year, it opened a new home in downtown Kansas City and at the end of last year launched Genomic Answers for Kids, a first of its kind pediatric data repository and the institutes flagship research initiative. We spoke to Tom Curran, senior vice president, chief scientific officer, and executive director of the Children’s Mercy Research Institute, about the program, its ambitious efforts, and it focus on translational research.…
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1 Choosing the Right Viral Vector for a Gene Therapy 29:45
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Gene therapy is promising to provide treatments and potential cures for a long list of rare, genetic diseases. A key element of these therapies are the viral vectors that are used to deliver and insert the genetic material used to treat a patient. Guangping Gao, co-director of the Li Weibo Institute for Rare Diseases Research, director of the Horae Gene Therapy Center and Viral Vector Core, and professor at the University of Massachusetts Medical School; and Phillip Tai, assistant professor at the University of Massachusetts Medical School, discuss a recent review article that they co-authored in Nature’s journal Signal Transduction and Targeted Therapy that looks at viral vector platforms for gene therapy. We spoke to the researchers about viral vectors, the role they play in gene therapy, and the decision process that goes into the selection of a vector of a specific gene therapy. Thanks to Pfizer, Inc ., Bluebird , and Novartis Gene Therapies for their support of this podcast, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.…
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1 A Software Platform to Give Patients the Tools to Build Treatments for Rare Genetic Diseases 30:25
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Sanath Kumar Ramesh’s son Raghav was born with an ultra-rare and progressive disorder known as SSMD. The condition is caused by mutations in the GPX4 gene. There are only a handful of known patients with GPX4 mutations. In the past, most known cases resulted in death about a month after birth. Ramesh has moved with remarkable speed to find patients, raise money, and drive research. But he also realized that many other parents of children and small, rare disease organizations must go through the same process to develop treatments for ultra-rare conditions. To guide and accelerate the work for others, Ramesh has created OpenTreatments Foundation, a nonprofit with the with a software platform to enable treatments for genetic diseases regardless of rarity or geography. OpenTreatments provides people with a road map for developing genetic medicines; connects them with researchers, clinicians and other needed to advance their programs; and helps them show their capabilities to raise funding despite the rarity of a condition. We spoke to Ramesh, founder of OpenTreatments Foundation, about how his software platform works, the need it addresses, and how it can accelerate the development of treatments for ultra-rare genetic diseases.…
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1 Side Effects: The Toll a Rare Disease Can Take on a Family in Pursuit of a Cure 41:30
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In his new book, Emmy-winning news and documentary television producer Miguel Sancho recounts the efforts he and his wife Felicia Morton went through to get their son Sebastian diagnosed and treated for chronic granulomatous disease, a rare and deadly immunodeficiency. The book “More than You Can Handle: A Rare Disease, a Family in Crisis, and the Cutting-Edge Medicine that Cured the Incurable” follows some familiar territory for books in the genre but diverges in its willingness to explore the strains on a marriage that can arise when a child becomes ill with a rare and deadly disease, the difficulties parents can have coping, and the post-traumatic stress disorder that can follow even a successful cure. We spoke to Sancho and Morton about their journey to get their son diagnosed and treated, the challenges they faced, and how, after a period of relying on the generosity of others, they found healing in turning their attention outward to help others.…
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1 Realizing the Potential of CRISPR Gene Editing 50:58
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The Innovative Genomics Institute; a partnership between the University of California, Berkeley and the University of California, San Francisco led by Nobel laureate Jennifer Doudna; is working to harness CRISPR-based genome editing to correct underlying mutations in monogenic diseases. The institute is initially focusing its efforts on sickle cell disease and a rare familial autoimmune disorder. We spoke to Fyodor Urnov, director of technology and translation at the Innovative Genomics Institute, about its efforts to advance genome editing technology, its work on sickle cell disease; and why it is critical for researchers to consider issues like access, affordability, and scalability in developing genetic medicines. This episode is part of our ongoing Platforms of Hope series. Thanks to Pfizer, Inc ., Bluebird , and Novartis Gene Therapies for their support of this podcast, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.…
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1 Understanding the Economic Toll of Rare Disease in the United States 31:08
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The economic burden of rare disease in the United States reached nearly $1 trillion in 2019, according to a new study from the Everylife Foundation for Rare Diseases. About 43 percent of that total is for direct medical costs. The balance includes such things as forced retirement, absenteeism, and presenteeism—the lost productivity of people who show up to work but are not fully functioning. We spoke to Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation, about the study, its policy implications, and why the numbers are conservative.…
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1 The Promise of Gene-Based Therapies for Neurodegenerative Conditions 27:46
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The ability to target the underlying cause of a disease and make a lasting correction makes gene therapy an attractive approach to treating neurodegenerative conditions. The advent of Zolgensma, a gene therapy for the treatment of the rare neurodegenerative condition spinal muscular atrophy, serves as a model for this approach. A recent review article in Nature Neuroscience looks at the advances in development of gene therapies for neurodegenerative disease and considers the challenges and promises. We spoke to article co-author Subhojit Roy, professor in the departments of Pathology and Neuroscience at the University of California, San Diego, about the pace of activity in this area, why he believes it is so promising, and its potential extend beyond monogenic diseases. This podcast is part of our ongoing Platforms of Hope series that explore advances in gene Thanks to Pfizer, Inc., Bluebird, and Novartis Gene Therapies for their support of this podcast article, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.therapy and gene editing. Thanks to Pfizer, Inc ., Bluebird , and Novartis Gene Therapies for their support of this podcast, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.…
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1 Moving Beyond Viral Vectors for Gene Therapies 29:04
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Poseida Therapeutics is perhaps best known for its immune-oncology cell therapy products, but the company’s platform technologies are also being used to develop a growing pipeline of gene therapy candidates. While the most advanced ones in its pipeline use viral vectors, newer candidates make use of a non-viral nanoparticle vector. This technology can increase the payload of the gene therapy, avoid issues of immunogenicity, allow for redosing, and deliver manufacturing advantages. We spoke to Eric Ostertag, CEO of Poseida, about the company’s platform technology, its gene therapy pipeline, and its efforts to move beyond viral vectors. Thanks to Pfizer, Inc ., Bluebird , and Novartis Gene Therapies for their support of this podcast, part of our Platforms of Hope: Advances in Gene Therapy and Gene Editing series.…
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1 Acquisitions Help Jazz Build Toward Commercial Crescendo 21:53
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Jazz Pharmaceuticals has been successful at building and commercializing a growing pipeline of therapies to treat rare neurologic conditions and hematologic cancers. Central to its strategy has been the use of acquisitions to build its pipeline. In fact, we should note that since recording this podcast, the company continued that approach with news that it would acquire GW Pharmaceuticals for $7.2 billion to expand its neuroscience portfolio. We spoke to Robert Iannone, executive vice president of research and development and chief medical officer of Jazz about the company’s neuroscience pipeline, its growing family of commercial products, and how its preparing to maintain its leadership in the treatment of the rare sleep disorder narcolepsy as new competitors move toward market.…
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1 Powerful Gene Editing Approach Offers the Promise of Correcting a Range of Rare Diseases 28:20
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CRISPR is a powerful editing tool, but it works best as a way to knock out genes rather than correct them. New approaches to gene editing, though, are providing the promise of more effective tools for addressing the underlying drivers of monogenic diseases. A recent study in Nature of an approach known as base editing in a mouse model of the ultra-rare genetic condition progeria, a disease that causes premature aging, demonstrated the powerful potential of the approach. While CRISPR has been likened to scissors, base editing has been compared to the find-and-replace function of a word processor. We spoke to study leader David Liu, director of the Merkin Institute for Transformative Technologies at the Broad Institute, about base editing, how it works, and why it may offer the potential to treat a wide range of rare diseases. This episode is part of an occasional series on innovations in gene editing and gene therapy.…
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1 A Child's-Eye-View of Clinical Trials 21:05
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Arya Singh grew up with a child’s-eye-view of hospitals, operating rooms, and clinical trial sites. As someone with the rare and progressive neuromuscular disorder spinal muscular atrophy type 2, Singh knew what it meant to be isolated and frightened by both as a patient and a clinical trial participant. Now a student at Yale University with plans to pursue her interests in law and public policy in health, she has written Courageous Calla and the Clinical Trial. We spoke to Singh about the surgeries and clinical trials she endured as a child, her new book Courageous Calla, and her interest in humanizing medicine.…
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1 Using Nanoliposomes to Make Cancer Therapies Safer and More Effective 24:53
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Glioblastoma is an aggressive and rare brain cancer. Though it is typically treated with surgery, radiation, and chemotherapy, the prognosis for patients is grim with only 10 percent of surviving at least five years. Plus Therapeutics is developing a pipeline of radiotherapies that are encapsulated in nanoliposomes. Through novel deliver and formulation of these therapies, the company believes it can produce safer and more efficacious treatments. We spoke to Marc Hedrick, CEO of Plus Therapeutics, about the company’s nanoliposome technology, how it works, and why the company is focusing on rare cancers.…
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1 Accelerating Treatments for Rare Disease through Data Sharing 41:51
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Patients’ data is critical to rare disease innovation, but it does little to help advance progress if it is not widely accessible to researcher. RARE-X is a nonprofit working to bust data silos through a federated data-sharing platform and empower rare disease patient communities to more easily gather, structure and securely share critical data through a common platform. We spoke to Nicole Boice, co-founder and executive director of RARE-X, about the problem RARE-X is seeking to address, the technology and expertise the organization has been able to bring together, and why data sharing is essential to accelerating the diagnosis or rare diseases and development of new treatments to treat them.…
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1 Treating the Root Cause of Sickle Cell Disease 21:22
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The genetic basis of sickle cell disease has been long understood, but it has only been recent that new treatments and a growing pipeline of therapies have emerged. The inherited blood disorder causes red blood cells to become crescent shaped, which restricts the flow in blood vessels and limits oxygen delivery to the body’s tissues leading to severe pain and organ damage. At the end of 2019, Global Blood Therapeutics won accelerated approval for Oxbryta, the first FDA-approved therapy that directly inhibits sickle hemoglobin polymerization, the root cause of sickle cell disease. We spoke to Ted Love, president and CEO of Global Blood Therapeutics, about the changing landscape of sickle cell disease, Oxbryta and the company’s pipeline behind it, and how the company is approaching the global need for the drug given the higher prevalence of the disease in parts of the world.…
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1 Targeting a Common Pathway in Genetic Forms of Obesity 25:28
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At the end of November, the U.S. Food and Drug Administration approved Rhythm Pharmaceuticals Imcivree, the first therapy for chronic weight management in patients with certain genetic forms of obesity. The approval validates Rhythm’s approach to target a specific biological pathway common to a number of these conditions. We spoke David Meeker, CEO of Rhythm, about genetic obesities, the company’s drug Imcivree, and his plans to expand its use beyond the initial approved indications.…
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1 After Pruning Orchard, Gaspar Focuses on High Value Opportunities 24:35
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Orchard Therapeutics founder and former chief scientific officer Bobby Gaspar took the helm of the gene therapy company in March to replace CEO Mark Rothera when he stepped down. Since taking over, Gaspar has led a restructuring of the company and narrowed the focus to prioritize what it saw as high-value programs including its gene therapy for metachromatic leukodystrophy, a rare and life-threatening inherited disease of the body’s metabolic system. We spoke to Gaspar about the company’s sharpened focus, its gene therapy in development for metachromatic leukodystrophy, and where he sees the greatest opportunities for Orchard going forward.…
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1 Writing a New Chapter of Genetic Medicine 27:14
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Tessera Therapeutics is seeking to move beyond gene editing and gene therapy to what it calls “gene writing.” The company said its technology can be used to change base pairs, make small insertions or deletions, and integrate entire genes into the genome. We spoke to Geoffrey von Maltzahn, co-founder and CEO of Tessera, about the company’s gene writing technology, how it works, and the potential for it to accelerate the pace of genetic medicine.…
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1 How an Ultra-Rare Disease Patient Organization Drove Research to a Treatment 26:00
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In November, the U.S Food and Drug Administration approved Eiger Biopharmaceutical’s Zokinvy, the first therapy to treat the ultra-rare disorder progeria, a genetic disease that causes premature aging. The approval of Zokinvy, which began life as a potential cancer therapy known as lonafarnib, shows the essential role patient organization can play in driving research and bringing together collaborators to advance the understanding of a condition and develop treatments. We spoke to Leslie Gordon, co-founder and medical director of the Progeria Research Foundation, about the role the organization has played in creating an understanding of progeria, identifying and advancing a therapy for the condition, and how a windfall from the sale of a priority review voucher from the approval of the therapy will help advance future research.…
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1 With a New Identity, Travere Thearpeutics Seeks to Find Its True Path 23:00
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The rare disease drug developer Retrophin has been through a number of changes in recent years including a new CEO, a late-stage failure of a key program, and the resolution of dueling lawsuits between it and its former CEO and convicted fraudster Martin Shkreli. Now with data from its lead experimental therapy sparsentan expected next year in two different rare kidney diseases, the company has changed its name to Travere Therapeutics. We spoke to Eric Dube, CEO of Travere, about the company’s new identity, its experimental therapy sparsentan, and the rare kidney diseases it is being developed to treat.…
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1 Making Gene Therapies Accessible to Patient with Ultra-Rare Conditions 31:29
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While gene therapies provide great promise for people with rare, genetic diseases, the pursuit of these one-time treatments may not seem economically viable to commercial developers. In the case of ultra-rare conditions, the patient populations may be so small that it may not be possible for companies to recoup their investments, let alone make a profit. The nonprofit Columbus Children’s Foundation is providing funding and scientific resources to accelerate access to gene therapies for children with ultra-rare genetic disorders. We spoke to Jude Samulski, a gene therapy innovator and chairman and chief scientific officer of the Columbus Children’s Foundation, about the foundation operates, the range of capabilities it is able to bring together, and the potential to scale what it does to reach more patients in need of treatments.…
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1 Using RNA Therapies to Target Inherited Retinal Diseases 26:35
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Daniel de Boer became a biotech executive after his son was diagnosed with the genetic respiratory disease cystic fibrosis. He founded ProQR Therapeutics with an initial focus on developing RNA therapies to treat cystic fibrosis, but the company has since turned its attention to a group of rare, inherited retinal diseases that cause blindness. We spoke to de Boer, CEO of ProQR, about the evolution of ProQR, its pipeline of antisense oligonucleotide therapies, and the advantage of this approach in treating rare eye diseases.…
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1 Part 4-Gene Therapy: A Researcher’s Perspective 25:30
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The economics of developing gene therapies can make it unattractive for biopharmaceutical companies to invest in bringing a gene therapy through development and to the market for ultra-rare conditions. But researchers at the National Center for Advancing Translational Sciences are working to develop a set of gene therapy vectors that can be used in multiple indications and eliminate the time and cost of preclinical development for a range of conditions through its Platform Vector Gene Therapy, or PaVe-GT program. In this fourth and final part of our gene therapy series, we spoke to P.J. Brooks, program director in the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences, about the PaVe-GT program, the potential for developing a toolkit of plug-and-play vectors, and how this can alter the cost of developing gene therapies for ultra-rare and individual patients. This series is made possible through support from BioMarin, Pfizer, Retrophin, Novartis Gene Therapies (formerly AveXis), UCB Inc., Genentech, Ultragenyx, Novartis, RegenxBIO, and Sangamo Therapeutics.…
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1 Part 3-Gene Therapy: An Industry Perspective 23:03
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Though there are only a handful of gene therapies on the market today, there is a robust and growing pipeline of these transformative medicines advancing toward market. In this third part of our gene therapy series we spoke to Janet Lambert, CEO of the Alliance for Regenerative Medicine, about the state of the gene therapy industry, the challenges developers face in advancing therapies to the market, and emerging pricing approaches to make them accessible to the patients who need them. This series is made possible through support from BioMarin, Pfizer, Retrophin, Novartis Gene Therapies (formerly AveXis), UCB Inc., Genentech, Ultragenyx, Novartis, RegenxBIO, and Sangamo Therapeutics.…
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1 Part 2-Gene Therapy: A Patient Advocate's Perspective 27:28
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Shortly after birth, Kim Nye’s first daughter Tessa began suffering seizures. Though Nye gave birth to other children without significant health issues, when her fourth child Colton was born, he had the same symptoms as his oldest sister. The two siblings were eventually diagnosed with an ultra-rare genetic disorder and Nye began the TESS Research Foundation. The organization has been pursuing a gene therapy, which a biopharmaceutical company is now working to develop. In this second part of our series on gene therapies, we spoke to Nye about her own journey to becoming a rare disease advocate, how a gene therapy fit into her organization’s research agenda, and the considerations she is weighing before dosing her children with an experimental gene therapy.…
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1 Part 1-Gene Therapy: A Genetic Counselor’s Perspective 19:42
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Genetic counselors play a unique role in the medical life of a person with a rare disease. They can serve as guide, translator, and trusted advisor. In this first part of our four part series on gene therapies, we spoke to genetic counselor Stephanie Gandomi, a Global Genes advocacy resource, about gene therapies, the role genetic counselors play in working with rare disease patients, and the considerations rare disease patients may make about whether to pursue a gene therapy through a clinical trial. This series is made possible through support from BioMarin, Pfizer, Retrophin, Novartis Gene Therapies (formerly AveXis), UCB Inc., Genentech, Ultragenyx, Novartis, RegenxBIO, and Sangamo Therapeutics.…
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1 An App to Make Patients the Experts in their Own Conditions 24:12
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Nell Meosky Luo remembers the way her mother use to keep extensive journals documenting the symptoms and treatments of her brother, who has a rare immune disorder. It served as inspiration for Folia Health, which has developed a platform that allows patients and caregivers to maintain health records, manage their conditions, and communicate with their physicians. We spoke to Luo, founder and CEO of Folia Health, about how patients are using the platform, its potential to gather real-world data, and how the data it gathers could be used to advance the understanding of rare diseases.…
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1 Pursuing a New Target for Autoimmune Diseases 20:04
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Kezar Life Sciences is developing therapies for immune-mediated disorders and cancer. It’s lead experimental therapy is in development for the rare autoimmune condition lupus nephritis. It is a first-in-class therapy that targets master regulators of cellular function. We spoke to Noreen Henig, chief medical officer for Kezar, about lupus nephritis, the company first-in-class candidate to target the condition, and why it may have application in a broad range of autoimmune diseases.…
In 2006, at the age of 29, Ben Munoz suffered a stroke from a rare condition known as arteriovenous malformation. One of the things that were critical in his treatment and recovery was the connection he was able to make with another person who had the same condition and had experienced what Munoz was going through. Munoz co-founded the nonprofit Ben’s Friends, which operates an expanding set of patient communities for people with specific rare conditions to connect and support each other. We spoke to Munoz, about his own experience with a rare condition, the role support from someone with his own condition has played, and his efforts to create a forum where patients with specific conditions can connect and provide support to each other.…
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1 Industrializing Individual Therapies for People with Rare Conditions 28:38
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It began as a Facebook post for someone looking for help getting a child with a rare neurological condition whole genome sequencing. It resulted, though, in groundbreaking work by Timothy Yu, a neurologist and attending physician in the Division of Genetics and Genomics at Boston Children’s Hospital to develop a custom antisense oligonucleotide therapy for the little girl, who had a rare form of the neurodegenerative condition Batten disease. The work to design and deliver an antisense therapy in under a year has excited the rare disease community for the potential of individualized therapy that address the underlying genetic mechanisms of rare diseases. We spoke to Yu about his work, the potential to industrialize the creation and delivery of individualized therapies for rare disease patients, and the challenges that need to be addressed.…
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1 Rare Disease Advocate Turned Filmmaker Turns Lens on his Son 33:57
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Clinton Moore was a reluctant rare disease advocate. It took several years for him to become engaged in the rare disease community after his son Chandler was diagnosed with cystinosis, a rare, genetic, metabolic disease. Moore, who today is president of the Cystinosis Research Network, can add filmmaker to his credits. Moore tells his son’s story in a full-length documentary Walk in My Shoes. The film, which is available for free on YouTube, offers a view into the daily life of a boy and his family dealing with a rare disease. We spoke to Moore about his son’s rare disease journey, his own emergence as an advocate, and how he came to recognize the power of an individual to make a difference.…
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1 Inhibiting Signaling that Drives Growth of Rare Malformations 25:33
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Venous and lymphatic malformations are types of congenital vascular anomalies that are present at birth. These malformations can cause a number of complications including pain, bleeding, and impairment of the affected area. Current treatments options are limited and there are no drugs approved for these conditions. Venthera, a BridgeBio affiliate, is developing a topical gel for the treatment of venous and lymphatic malformations that targets signaling pathways that drive them. We spoke to Thom Rossi, CEO of Venthera, about the company’s lead experimental therapy, its first-in-man-trial, and how it is leveraging the resources of BridgeBio.…
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1 Readying a Rare Disease Community for the Availability of Treatments 17:52
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Niemann-Pick disease is a rare and often-fatal genetic, metabolic disorder with no approved treatments, but that could soon change as new therapies advance through the development and approval process. In anticipation of the first therapies for the disorder becoming available, the National Niemann-Pick Disease Foundation has been working to prepare patients and their families for new obstacles they may need to navigate to obtain access and reimbursement for these treatments. We spoke to Joslyn Crowe, executive director of the National Niemann-Pick Disease Foundation, about what her organization is doing to prepare the community for the availability of the first therapies for the conditions, the issues people will need to consider, and how families may need to think differently about their futures.…
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1 Forging a Rare Disease Research Agenda 25:07
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Cara O’Neill was a practicing pediatrician, but after her daughter was diagnosed at age 3 with Sanfilippo syndrome, she turned her attention to driving research into the rare lysosomal storage disorder. Today, O’Neill serves as the chief science officer of Cure Sanfilippo Foundation, an organization she and her husband founded. It has since funded $6.5 million in research through more than 20 scientific projects and clinical trials. We spoke to O’Neill about Sanfilippo syndrome, her journey from physician to advocate, and her efforts to craft a research agenda.…
Chiasma is developing oral formulations of injectable drugs using its proprietary drug development technology. This allows therapies that would normally break down in the stomach to reach the small intestine, where they can be absorbed. At the end of June, the company won approval for Mycapssa, the first and only oral therapy to treat acromegaly, a rare condition in which the overproduction of growth hormone can lead to serious health conditions. It was the first drug approved using the company’s drug delivery technology. We spoke to Raj Kannan, CEO of Chiasma, about the company’s recently approved therapy for acromegaly, the company’s drug delivery technology, and the value of having oral alternatives to injectable therapies.…
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1 What Young Adults with Rare Conditions Need to Know About Health Insurance 36:50
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The world of health insurance can appear complex and confusing. For young adults with rare and chronic conditions, navigating their coverage options for the first time may also require them to consider access to specific physicians, services, and therapies. We spoke to Colleen Huysman, a clinical social worker with the Bridges Adult Transition Program at Boston Children’s Hospital, and Sneha Dave founder and executive director of the Health Advocacy Summit, about the issues young adults with rare and chronic condition need to think about as they seek health coverage, the types of choices they will face, and how to best go about navigating this dense and opaque world. As a note, look for more topics like this at this year’s Global Genes Live event and going forward as the organization moves to increase educational efforts around managing the financial challenges of living with a rare disease.…
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1 Mirum Prepares to Seek Approval for Rare Liver Disease Therapy 22:24
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1 Payer Perceptions of Fairness in Pricing Rare Disease Therapies 23:36
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The debate over pricing of therapies often centers on the question of value and how to best determine it. The consulting firm Charles River Associates took an interesting approach to understanding the way payers view the pricing of rare therapies. Instead of asking them about pricing in terms of value, they asked about it in terms of fairness. We spoke to Andrew Parece and Matthew Majewski, both vice presidents with Charles River Associates, about how payers view the pricing of rare disease therapies, how context changes perceptions around pricing, and why they began questioning payers about the issue of fairness.…
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1 Improving Narcolepsy Therapy with Drug Delivery Technology 21:15
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Narcolepsy is a rare neurological sleep disorder with limited treatment options. Avadel is working on a controlled-release formulation of the standard of care, sodium oxybate, that allows for a once nightly dose of the drug. We spoke to Greg Divis, CEO of Avadel, about the company’s experimental therapy for narcolepsy, how it improves on the existing standard of care, and how it breaks with the company’s existing base of business. Editor's note: We recorded this podcast in late June. During the interview, Divis discussed the company's hospital products. On July 1, 2020, Avadel announced the sale of its hospital products portfolio to strategically focus on advancing FT218 through the FDA regulatory review process.…
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1 Fighting the Persistent Cough in a Rare and Deadly Lung Disease 26:04
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Idiopathic pulmonary fibrosis is a family of lung diseases characterized by scarring and thickening of lung tissue leading to an irreversible loss of lung function and reduced life expectancy. In normal times, the dry and persistent cough the condition can cause, can have a big impact on a person’s quality of life, but in the midst of a pandemic where coughing is a sign of infection, it can be particularly isolating. Respivant Sciences is developing an experimental therapy that treats IPF patients who suffer from a persistent cough. We spoke to Bill Gerhart, CEO of Respivant, about IPF, what life with the condition can be like, and the company’s experimental therapy to treat the it.…
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1 Targeting Huntington's Disease with Antisense 21:02
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Ionis Pharmaceuticals has been a pioneer of antisense therapies, which target RNA to either disrupt production of a disease-causing protein or upregulate needed proteins in people who are deficient. The company is in late stage development of a promising therapy to treat Huntington’s disease, a rare and fatal neurodegenerative condition. But the company is also working on advancing a new generation of antisense therapies to improve the safety and efficacy of these treatments. We spoke to Eric Swayze, executive vice president of research for Ionis, about its experimental Huntington’s disease therapy, its efforts to treat the condition, and what the next generation of antisense therapies will look like.…
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1 Assembling a Pipeline for Rare GI Disorders 20:12
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Short Bowel Syndrome is a life-threatening rare disease caused by a significant shortening of the gastrointestinal tract. Because of difficulties people with short bowel syndrome have properly absorbing nutrients they rely on receiving them through intravenous infusions. This has an impact on the quality of life of people with the condition and comes with a high risk of systemic infections. 9 Meters Biopharma is focused on rare gastrointestinal conditions. It is advancing an experimental therapy for short bowel syndrome. We spoke to John Temperato, president and CEO of 9 Meters Biophama, about short bowel syndrome, the company’s experimental therapy to treat the condition, and how the company has built its pipeline through two recent mergers.…
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1 Treating Huntington's Disease by Addressing Neuroinflammation 19:24
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Huntington’s disease is a rare and fatal neurodegenerative condition that is without any disease-modifying therapies today. Vaccinex is developing an experimental therapy designed to treat Huntington’s disease by addressing neuroinflammation, a hallmark of the condition that it shares with other neurodegenerative diseases. We spoke to Maurice Zauderer, president and CEO of Vaccinex, about the role of neuroinflammation plays in Huntington’s disease, its experimental therapy to treat the condition, and why it may provide benefits to people with other neurodegenerative diseases.…
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1 How Patient Advocate-Led Research Can Alter a Rare Disease Landscape 25:01
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When Sandra Bedrosian Sermone grew frustrated by the slow pace of a drug developer working to advance a potential therapy for ANDP, a rare condition her son has, she and another parent of a child with neurodevelopmental disorder began to search for a potential drug to repurpose. Their work suggested low doses of the powerful anesthetic ketamine could up regulate activity of the ADNP gene and provide benefit to patients. Now, a clinical trial of low-dose ketamine is getting underway thanks to their efforts. We spoke to Bedrosian-Sermone, founder and president of the ADNP Kids Research Foundation, about ADNP, her efforts to find a potential treatment for it, and how a patient advocate without formal science training can alter the therapeutic landscape for a rare disease.…
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1 Keeping Clinical Trials Going During a Pandemic 26:01
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When the COVID-19 pandemic hit, it disrupted all aspects of daily life. Many drug developers were forced to suspend clinical trials because of the challenges of brining participants into medical centers with the risk of infection and the strain on healthcare workers. Palvella Therapeutics, which is developing an experimental therapy for a rare skin condition has been able to navigate the pandemic and continue its clinical study without disruption thanks to recognize the challenge early and adjusting its study plans accordingly. We spoke to Kathy Goin, vice president of development operations for Palvella Therapeutics, about its ongoing study, how it managed to continue unimpeded during the pandemic, and why she expects changes the company made will have a lasting effect on how it conducts clinical studies in the future.…
Chris Austin calls himself an evangelist for collaboration when it comes to rare disease drug development. The director of the National Institutes of Health’s National Center for Advancing Translational Sciences said it is essential for rare disease advocates to look beyond their own diseases to recognize commonalities between their conditions and others to find opportunities to collaborate. We spoke to Austin ahead of his keynote address at this year’s Global Genes Rare Drug Development Symposium June 11, about why collaboration is critical to accelerating research, how broadly organizations should think about collaborations, and how patient groups can best work with NCATS to leverage the resources it has.…
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1 Learning to Be Comfortable Being Uncomfortable 46:17
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When Penny Howard’s daughter Harper died in 2016 from the rare neurodevelopmental condition CDKL5 deficiency disorder, Howard and her husband donated her brain and other tissue to research. The donation provided researchers with the first brain of someone who had CDKL5. Today, Harper’s cell lines live at the University of California, San Diego and are used to provide cells to researchers from around the world. Her brain tissue is at the Harvard Brain Tissue Resource Center. We spoke to Howard, founder and president of Hope4Harper, about her daughter’s life and death, the decision to donate her brain, and her journey to becoming an advocate for organ donation.…
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1 An Approach to De-Risk Rare Disease Drug Development 24:21
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AMO Pharma is developing drugs for a variety of rare neurologic conditions with a pipeline of experimental therapies seeking to treat Phelan-McDermid syndrome, congenital myotonic dystrophy, and Rett syndrome. The company believes it can advance therapies efficiently by acquiring molecules that have already been studied at either a preclinical or clinical stage and jump starting their development in new indications. We spoke to Michael Snape, chief scientific officer of AMO Pharma, about the company’s approach to drug development, how it selects drugs and diseases to pursue, and its lead therapeutic candidates.…
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1 Targeting Epigenetics in Rare Proliferative Bone Marrow Cancers 21:17
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Imago BioSciences is developing therapeutics that change the behavior of malignant blood cells by targeting an enzyme that regulates gene transcription. LSD1 is an epigenetic enzyme that controls how genes are turned on and off in specific cells and plays a key role in the rare bone marrow cancer myelofibrosis. We spoke to Hugh Reinhoff, Jr., CEO of Imago, about myelofibrosis, the company’s experimental therapy bomedemstat to treat the condition, and the case for targeting epigenetic processes to address proliferative diseases of the bone marrow.…
Earlier this year Chiesi Farmaceutici established Chiesi Global Rare Diseases, a new business unit to advance research and product development for rare and ultra-rare diseases. The unit, headquartered in Boston, has an initial focus on lysosomal storage, hematologic, and ophthalmologic disorders. We spoke to Giacomo Chiesi, head of Chiesi Global Rare Diseases, about the company’s approach to building its rare disease pipeline, its experimental therapy for Fabry disease, and how it fits in with the company’s broader rare disease strategy.…
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1 Targeting the Metabolism of Rare Cancers 21:41
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Rafael Pharmaceuticals is focused on developing therapies that act on the metabolism of rare cancers. It designs drugs that attack regulatory processes that are unique to cancer cells and not found in healthy ones. Its lead drug candidate, devimistat, targets enzymes that are involved in cancer cell energy metabolism and found in the mitochondria of cancer cells. We spoke to Sanjeev Luther, president and CEO of Rafael, about the company’s lead indication of pancreatic cancer, its drug discovery platform, and why it is focused on rare cancers.…
When Keith McArthur’s son Bryson was born, he was a happy and loving baby. Soon, though, Bryson began missing developmental milestones and doctors determined he had a neurological disorder. After nearly a decade, Bryson was diagnosed with a variant in his GRIN1 gene. Keith McArthur, who today is CEO and head of science for the CureGRIN Foundation, tells Bryson’s story in an eight-part podcast series produced with the CBC called Unlocking Bryson’s Brain (Hyperurl.co/Bryson). We spoke to McArthur about Bryson, the efforts of the CureGRIN Foundation to find a cure for the condition, and what he hope to accomplish with the podcast series.…
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1 Living Therapies for Chronic Conditions 32:46
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There are a number of rare disease where a genetic mutation results in the deficiency of an enzyme or other critical protein that can lead to a progressive or life-threatening condition. Patients have been treated with the chronic administration of recombinant versions of the proteins they lack. While this provides benefit, it requires regular infusions or self-administered shots, is costly, and disruptive. Sigilon is developing what it calls “Shielded Living Therapeutics,” encased cells that can be implanted to provide steady levels of the protein a patient lacks and free them from the need for constant administration of these biologics. We spoke to Rogerio Vivaldi, president and CEO of Sigilon Therapeutics, about the company’s living therapeutics, how it’s able to protect these cells from attack from the immune system, and how they function once inside the body.…
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1 A One-to-Many Approach to Gene Therapy for Retinal Disease 22:42
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Gene therapies to treat retinal diseases promise to reverse blinding conditions, but the approach most gene developers take is to replace a mutated gene underlying a genetic disease with a functional version of that gene. The problem is that this approach can only address a narrow set of patients with each gene therapy. Ocugen, which Is developing gene therapies for eye diseases, believes it can treat a range of rare retinal conditions with a single therapy by introducing a functional gene that has the effect of modifying the expression of multiple genes at once. We spoke to Shankar Musunuri, CEO of Ocugen, about the company’s modifier gene therapy platform, how a single gene therapy can work on multiple eye diseases, and how it may alter the economics for gene therapy for rare eye conditions.…
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1 Targeting an Immune Switch in Rare Diseases 18:23
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WHIM syndrome is a rare, inherited, primary immunodeficiency disease caused by mutations to the CXCR4 receptor gene. Because of the role CXCR4 plays in the immune system, it is implicated in a number of rare diseases. X4 Pharmaceuticals, a company founded by rare disease pioneer Henri Termeer and other Genzyme alums, is developing a pipeline of CXCR4-targeted therapies. We spoke to Paula Ragan, co-founder, president and CEO of X4, about WHIM syndrome, the role CXCR4 plays in the immune system, and how the company’s experimental therapy Mavorixafor may be able to treat a range of rare conditions.…
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1 Targeting the Regulatory Genome to Treat Rare Blood Diseases 23:34
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Syros Pharmaceuticals is developing a platform for targeting the regulatory genome with therapies to address diseases at a fundamental level. At the end of last year, the company entered into a collaboration with Global Blood Therapeutics to develop new therapies for sickle cell disease and beta thalassemia. Under the collaboration, Syros is using its platform to discover drugs that turn on the production of fetal hemoglobin as a way to treat these rare, hereditary, blood disorders. The production of fetal hemoglobin is usually shut down soon after birth. We spoke to David Roth, chief medical officer of Syros Pharmaceuticals, about the collaboration, how Syros’ approach works, and why activating fetal hemoglobin is viewed as a promising approach to treating these genetic blood diseases.…
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1 A Reborn Forma Therapeutics Focuses on Rare Blood Diseases and Cancer 20:55
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Forma Therapeutics had long been a platform-based drug company that used high-throughput screening to discover new drugs that would be developed by partners. After many years, Forma began transitioning to become a fully integrated therapeutics company focused on rare blood disorders and cancer. It brought in Frank Lee, who had been a senior vice president of global product strategy at Genentech, as CEO to help execute the company’s new plan. We spoke to Lee about why he joined Forma, the company’s program in sickle cell disease, and his vision Forma as a company that develops and commercializes its own medicines.…
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1 Targeting Genetic Diseases at Their Root Cause 19:49
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FSHD is a rare, progressive, muscle wasting disease that affects the face, shoulders, and arms before advancing to the lower body. Like many rare conditions, it is caused by an underlying genetic mutation. Fulcrum Therapeutics is developing an experimental therapy for FSHD, the lead candidate in a pipeline of medicines that target the root causes of genetic diseases. We spoke to Robert Gould, president and CEO of Fulcrum, about FSHD, the company’s experimental therapy to treat the condition, and how he thinks about the company’s broader pipeline.…
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1 Targeting Hormone Dysregulation in Prader-Willi Syndrome 20:59
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Prader-Willi syndrome is the most common genetic cause of life-threatening childhood obesity. It is a rare and complex condition that is characterized by unrelenting hunger, or hyperphagia, as well as intellectual disability, short stature, and incomplete sexual development. Millendo Therapeutics is developing livoletide, an experimental, first-in-class therapy that treats hyperphagia by targeting the underlying hormone dysregulation of Prader-Willi syndrome. We spoke to Julia Owens, CEO of Millendo, about Prader-Willi syndrome, the changing development path of livoletide, and what the company has learned as it shifted its focus to a different patient population.…
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1 Rare Disease Advocates Take to the Hill 21:50
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As rare disease patients and advocates seek to raise awareness around the globe for World Rare Disease Day at the end of February, one notable place they will gather is on Capitol Hill in Washington, D.C. It’s become an annual tradition for rare disease advocates to talk face-to-face with lawmakers to bring the abstractions of rare disease down to a human level and speak about the needs patients and their caregivers face. We spoke to Steve Silvestri, director of public policy for the Everylife Foundation for Rare Diseases, about Rare Disease Week on Capitol Hill, the case for patients and caregivers to become advocates, and how they can go about doing so.…
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1 Targeting a Common Link in Otherwise Different Rare Diseases 23:43
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Fibroblast growth factors are a group cell signaling proteins that play a critical role in growth and development. They have been implicated in achondroplasia, the most common genetic form of dwarfism, but these growth factors are also involved in a number of rare cancers. QED Therapeutics, a BridgeBio company, is developing infigratinib, an experimental tyrosine kinase inhibitor that targets multiple fibroblast growth factors, for both achondroplasia and certain forms of bile duct and bladder cancers. We spoke to Susan Moran, CEO of QED Therapeutics, about the company’s experimental tyrosine kinase inhibitor, the role fibroblast growth factors play in seemingly disparate rare diseases, and the challenges of learning to work with very different types of patient communities.…
Conducting rare disease clinical trials can be challenging because of small and geographically dispersed groups of patients who may face difficulties in travelling to trial sites. Regulatory requirements for cell and gene therapies, even if only administered once, require long-term follow ups that extend for many years and provide an ongoing burden for patients. Jeeva Informatics Solutions is seeking to address those challenges through it harnessing of digital health technologies to bring the trial to the patient. We spoke to Harsha Rajasimha, founder and CEO of Jeeva, about the challenges of conducting rare disease clinical trials, the potential of digital health technologies to address those issues, and how ready regulators and sponsors may be to embrace these technologies to transform the way they conduct clinical trials today.…
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1 Crowdsourcing Therapeutic Approaches for an Ultra-Rare Disease 18:14
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Terry Pirovolakis became immersed in the world of rare disease after his son Michael was diagnosed with spastic paraplegia 50, an ultra-rare and progressive neurodegenerative disease. Later this month, interdisciplinary teams from around the world will gather as part of a 30-day hackathon to develop therapeutic strategies for Michael’s condition. We spoke to Pirovolakis about Michael’s disease, how the hackathon will work, and why he’s trying to turn this into a sustainable model for other people with ultra-rare diseases to develop treatments for conditions without any.…
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1 Delivering Oligonucleotide Therapies to Any Cell Type 21:49
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David Giljohann likens his company’s spherical nucleic acid (SNA) constructs to Koosh balls. But instead of having elastic strings extending from their core, this new class of immunomodulatory and gene regulating drugs are covered with nucleic acids that stick out in all directions. The arrangement allows these oligonucleotides to be taken up by all cell types and can be delivered throughout the body allowing them to overcome some of the limitations of existing nucleic acid therapies. We spoke to Giljohann, CEO of Exicure, about the company’s SNA therapies, how they work, and why they have the potential to treat a wide range of conditions including rare neurological diseases.…
Protalix Biotherapeutics plant cell-based platform has been a point of differentiation for the company, a faster and more scalable way of producing protein therapeutics. The company first product, an enzyme replacement therapy for Gaucher disease, offered a proof of its approach. The company is pursuing therapies for Fabry disease and cystic fibrosis, as well as inflammatory diseases, but it is also in the process of rethinking its strategy of biobetters. We spoke to Dror Bashan, CEO of Protalix, about the company’s manufacturing platform, its therapeutic pipeline, and its desire to move toward addressing unmet medical needs.…
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1 Driving N-of-1 Therapies for Ultra-Rare Disease Patients 28:17
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Antisense pioneer and Ionis Pharmaceuticals Executive Chairman Stanley Crooke has launched a nonprofit to design and deliver custom RNA-targeted therapies free of charge for individual patients with ultra-rare diseases. The organization, n-Lorem Foundation, will leverage Ionis’ technology platform to speed the discovery and development of custom antisense oligonucleotide. We spoke to Crooke about the genesis of n-Lorem, how it will determine whether to work with an individual patient or researcher, and the challenges for regularizing the process of designing n-of-1 therapies for ultra-rare disease patients.…
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1 Cutting the Time and Cost of Drug Discovery with MicroOrgans 28:20
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One of the reasons for the clinical failure of drugs is that animal models often fall short as predictors of how a drug will work in humans. StemoniX believes it can cut the time and cost of drug discovery with its microOrgans that are engineered from human induced pluripotent stem cells. These microOrgans can be used for high throughput human drug screening without the need for drugs to enter a human subject. We spoke to Ping Yeh, CEO of StemoniX, about the company’s technology platform, how it works, and its recent agreement with the AI company Atomwise to discover and develop small molecule candidates to treat the rare neurological condition Rett syndrome.…
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1 Acquisition Combines Two Pipelines for Rare Skin Diseases 29:01
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In December, Castle Creek Pharmaceutical Holdings completed its acquisition of Fibrocell. The deal brought together two companies developing therapies for rare skin disorders. We spoke to John Maslowski, CEO of the combined company, about its late-stage gene therapy in development for recessive dystrophic epidermolysis bullosa, how it differs from what is conventionally thought of as gene therapy, and what the acquisition does to advance the pipeline of the two companies.…
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1 Programming Cells to Produce Neuroprotective Factors to Treat ALS 18:51
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ALS is a progressive neurodegenerative disease. As motor neurons die, people with the condition grow weaker and lose motor function. For most, death occurs within three to five years of diagnosis. Brainstorm Cell Therapeutics is conducting a phase 3 clinical trial of its autologous stem cell therapy that programs cells taken from patients to produce neuro-protective factors that promote the survival of neurons. We spoke to Ralph Kern, chief operating officer and chief medical officer of Brainstorm Cell Therapeutics, about ALS, the company’s late-stage experimental therapy, and how its approach may provide benefits for patients with other neurodegenerative disease.…
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1 Origin's Rapid Path to Seek Approval for Treatment of Ultra-Rare Metabolic Condition 20:56
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Earlier this month, Origin Biosciences initiated a rolling submission with the U.S. Food and Drug Administration for approval to market an experimental therapy to treat the ultra-rare metabolic condition molybdenum cofactor deficiency (MoCD) Type A. The condition manifests itself shortly after birth and leads to difficulty feeding and intractable seizures. Children with the condition have a median survival of three years and those who live longer suffer irreversible damage to their central nervous system. The rolling submission comes about a year and a half after BridgeBio acquired the therapy from Alexion Pharmaceuticals and formed Origin Biosciences to develop it. We spoke to Neil Kirby, CEO of Origin, about MoCD, how its synthetic enzyme co-factor works to treat it, and the plans for Origin beyond the submission for approval.…
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1 Developing a Common Language for Rare Diseases 24:36
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There is no clear agreement as to what constitutes a rare disease, the actual number of rare diseases, and how individual rare diseases are defined. The lack of clarity on the matter is not just an academic issue. The consequences of this, say researchers, is that it slows the diagnostic process and impedes the development of needed therapies for these conditions. In a recent commentary in the journal Nature Reviews Drug Discovery, Melissa Haendel and her co-authors discuss their efforts to characterize, define, and harmonize the definitions of rare disease through the Monarch Disease Ontology initiative. We spoke to Haendel, associate professor of medical informatics and clinical epidemiology at the Oregon Clinical and Translational Research Institute, about the problem with the different way organizations characterize and define rare diseases, the challenges of aligning these definitions, and why harmonization is critical for making progress in diagnosing and treating these conditions.…
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1 Why Payers Lag Drug Developers and Regulators in Embracing Real-World Evidence 24:50
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Drug developers and regulators are rapidly expanding the use of real-world evidence to develop rare disease therapies, but a new report finds payers are far less enthusiastic about incorporating such data in evaluating the value of therapies. The report from Syneos Health found payers have concerns about a lack of standards and have gaps in their understanding. We spoke to Meg Alexander, head of the reputation and risk management practice for Syneos Health, about the report, the important role real-world evidence can play in rare disease drug development, and why payers are moving slower than drug developers and regulators to embrace real-world evidence.…
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1 How a Brother's Love Is Forging a Path for Customized Therapies for Rare Disease Patients 36:49
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Rich Horgan was attending Harvard Business School when he started reaching out to leading researchers to learn about his brother Terry’s condition Duchenne muscular dystrophy and what could be done to accelerate efforts to find a cure. Horgan was taken with the work of Timothy Yu to develop a customized therapy for a young girl with a form of the rare neurological condition Batten disease and founded the nonprofit organization Cure Rare Disease to develop customized therapies to treat patients with rare, genetic conditions. We spoke to Horgan, founder and president of Cure Rare Disease, about the organization, his efforts to develop a treatment for his brother, and what it will take to scale the process to address the needs of a large group of patients with rare, genetic conditions.…
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1 Addressing the Barriers to Accessing Experimental Therapies 43:43
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Expanded access—a means of allowing people with serious and life-threatening conditions who fail to meet the enrollment criteria of a clinical trial to gain access to experimental therapies —has become an area of growing interest among the rare disease community. Though so-called right-to-try legislation has allowed patients to bypass regulators, it has done little to address the true obstacles patients face in getting access to these therapies. The Expanded Access Summit, which will be help January 27 to 29 at the National Press Club in Washington, D.C., will bring together regulators, drug developers, patients, and other stakeholders interested in expanded access. We spoke to Jess Rabourn, CEO of WideTrial and executive producer of the Expanded Access Summit (easummit.net), about the promise of expanded access, how it can be used to improve the clinical development of therapies, and how to address some of the remaining barriers to patient access of experimental therapies.…
When Kyle Bryant was diagnosed with the rare neuromuscular disease Friedreich's ataxia, it upended his sense of himself and his future as he began to wrestle with feelings of anger and depression. His life changed, though, when he read about a man with multiple sclerosis and his use of a recumbent trike, an adult-sized tricycle with a reclined seat. Bryant was inspired and shortly planned a cross-country bike trip with his father to raise money for Friedreich's ataxia research, a journey he chronicled in his book “Shifting into High Gear.” We spoke to Bryant, director of Ride Ataxia at the Friedreich's ataxia Research Alliance and co-host of the Two Disabled Dudes podcast, about his bike journey, how it changed his relationship with his disease, and how it gave rise to his work as an advocate.…
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1 Turning Chronic Illness into a Fashion Statement 21:19
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Keisha Greaves was studying for a career in fashion and business when she was diagnosed with limb-girdle muscular dystrophy, a rare and progressive neuromuscular condition. Rather than let her disease sidetrack her entrepreneurial vision, she has used it as a source of inspiration. She launched Girls Chronically Rock to produce T-shirts and adaptive clothing that celebrates and empowers people with chronic diseases. We spoke to Greaves about her experience with chronic illness, her vision for Girls Chronically Rock, and her efforts to bring adaptive wear to mainstream retailers.…
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1 Connecting Young Adults with Rare and Chronic Conditions 22:29
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Seth Rotberg and Kristina Wolfe have each felt the isolation of entering adulthood in the shadow of rare and chronic disease. Rotberg, whose mother was diagnosed with Huntington’s disease, had genetic testing as a college student that showed he too will develop the neurodegenerative condition. Wolfe has grown up with type 1 diabetes. The two founded Our Odyssey to help young adults connect, find social and emotional support, and help them improve their quality of life. We spoke to Rotberg and Wolfe about their own experiences, why they created Our Odyssey, and the unique psychosocial issues people with rare and chronic diseases face in transitioning to adulthood.…
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1 Helping Caregivers Care for Themselves 27:59
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Cristol O'Loughlin grew up with three older brothers with the rare lysosomal storage disorder MPS II, or Hunter syndrome. The experience of seeing the demands on her mother led her to create Angel Aid Cares, an organization that seeks to support and connect caregivers, and help them learn to care for themselves while caring for others. We spoke to O’Loughlin about the challenges caregivers face, why they often neglect their own needs, and how her organization seeks to help them.…
Disorder: The Rare Disease Film Festival features films from around the world that capture the challenges of life with a rare disease. Launched in Boston in 2017, the festival will be held in San Francisco November 9 and 10 at the UCSF Mission Bay Campus. We spoke to Bo Bigelow, co-founder of Disorder, about what’s showing at this year’s festival, the power of film to raise awareness about rare disease, and how the event is intended to foster connections between patients and researchers.…
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1 Deep Genomics Boasts an AI First in Drug Discovery 27:50
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Last month, Deep Genomics garnered headlines when it declared that it had nominated the industry’s first artificial intelligence-discovered therapeutic candidate. The experimental therapy is intended to treat Wilson disease, a rare and potentially life-threatening condition. The target for the therapy was also identified by the company’s AI platform and Deep Genomics said it was able to identify the target and drug candidate in less than 18 months. We spoke to Brendan Frey, founder and CEO of Deep Genomics, about the company’s AI platform, why it is focused on genetic disease, and the case for the company’s approach to drug discovery.…
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1 How to Live with a Disability with Your Mojo Intact 26:29
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Shane Burcaw and Hannah Aylward, known to YouTube viewers as Squirmy and Grubs, often find people have trouble comprehending their relationship. Burcaw, who is disabled as a result of spinal muscular atrophy, weighs just 65 pounds and has limited physical abilities. As the title of his latest book explains, “Strangers Assume My Girlfriend Is My Nurse.” We spoke to Burcaw and Aylward about their relationship, their encounters with others, and their efforts to shatter misconceptions about the ability for disabled people to have a love life.…
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1 Why a Big Pharma Exec Embraced Rare Neurological Diseases 38:45
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Jeremy Levin’s high-profile success at building the pipeline at Bristol-Myers Squibb through deal-making and driving the company into immunotherapies, has given him the ability to take virtually any job he’d like in the biopharmaceutical sector. Given that, it may seem surprising the Big Pharma executive chose to become CEO of a development-stage company focused on rare neurological conditions. We spoke to Levin, CEO of Ovid Therapeutics, about why he took the job, the conditions the company is targeting, and whether his interest in rare diseases will shape the agenda of BIO now that he serves as chairman of the trade group.…
Jennifer and Tracy VanHoutan lost two children in less than two years to CLN2 Batten disease, a rare, genetic, neurodegenerative condition that slowly robs children of their abilities before taking their lives. The VanHoutans founded Noah’s Hope to create awareness, raise money to fund research, and eliminate policy barriers to bringing therapies to patients. Despite their loss, they continue to advocate and push for treatments. At this year’s Global Genes Rare Patient Advocacy Summit in San Diego September 18 to 20, the two will be honored with a 2019 RARE Champion of Hope Award for their advocacy work. We spoke to the VanHoutans about CLN2 Batten disease, their advocacy work, and their ability to fight on after the loss they suffered.…
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1 A Doctor's Quest to Cure His Own Rare Disease 27:29
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When David Fajgenbaum was in medical school, he became stricken with a rare autoimmune disease that nearly killed him. Though he recovered, he would suffer recurring, life-threatening flares only to discover the poor state of research into condition. Fajgenbaum chronicles his rare disease journey and his efforts to drive research and find treatments in his new book “Chasing My Cure: A Doctor’s Race to Turn Hope into Action.” Fajgenbaum, who is executive director of the Castleman Disease Collaborative Network, will be featured at this year’s Global Genes Rare Patient Advocacy Summit, which begins in San Diego September 18. Ahead of the summit, we spoke to him about his experience as a rare disease patient, his efforts to find treatments for his conditions, and how his innovative approach to developing a patient-driven research agenda has provided a roadmap for other rare disease organization to follow suit.…
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1 Susannah Cahalan and her Month of Madness 25:26
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Journalist and best-selling author Susannah Cahalan, ahead of her keynote address at the Global Genes’ RARE Patient Advocacy Summit September 18 in San Diego, discusses about her diagnostic odyssey, the critical role the support of her loved ones made, and what allowed the doctor who diagnosed and treated her to succeed where others had failed.…
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1 The Benefits Support Groups Offer Rare Disease Patients 28:11
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Nancy Patterson was diagnosed 32 years ago with Graves’ disease, a rare autoimmune condition that causes the thyroid to become overactive and can lead to a range of health complications. Patterson, a practicing mental health counselor, founded the Graves’ Disease and Thyroid Foundation, which she led for nearly 20 years. In her counseling role, she has worked with patients and families across the country and has been a proponent of the important role support groups can play in healing and educating people, particularly in a condition where patients are otherwise unlikely to meet others with the same disease. We spoke to Patterson about Graves’ disease, her own journey as a patient and advocate, and the benefits support groups can provide.…
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1 Targeting the Epigenetic Drivers of Cancer 21:11
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Epigenetics is the study of the regulatory system that controls how genes are turned on or off. In certain cancers, the proteins that regulate gene expression become dysregulated and incorrectly activate or deactivate genes, which can lead to cancer. Salarius Pharmaceuticals is targeting the epigenetic causes of cancer, including rare pediatric cancers. We spoke to David Arthur, CEO of Salarius about epigenetics, the rare cancer Ewing sarcoma, and company’s lead drug candidate to treat the condition.…
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1 Tackling Kidney Diseases with Orally-Delivered Enzymes 22:21
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Pediatric and primary hyperoxaluria is a rare genetic condition that causes over absorption of oxalate, a compound found in many foods. Too much oxalate can lead to the formation of kidney stones and cause progressive damage of the kidneys. Allena Pharmaceuticals is developing an oral enzyme to treat both the rare form of hyperoxaluria and a more common form of the condition. We spoke to Louis Brenner, CEO of Allena, about the company’s experimental therapy to treat hyperoxaluria, it’s platform for delivering enzymes orally, and the potential to apply the technology beyond kidney diseases.…
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1 Giving Voice to Patients through Data 36:18
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Casimir Trials is a contract research organization that is seeking to bring patient and caregiver perspective into the clinical trials process. It’s working with drug developers to create endpoints and measures that can provide rigorous and quantifiable means of demonstrating whether an experimental therapy provides meaningful improvements to a patient’s quality of life. We spoke to Christine McSherry, co-founder and CEO of Casimir Trials, about the challenges of developing patient-centric outcome measures, how technology is allowing for the capture of real-world evidence, and how Casimir began with a challenge from the FDA’s Center for Drug Evaluation and Research Director Janet Woodcock to a mother and patient advocate concerned over the use of endpoints that could obscure the value of needed drugs to rare disease patients.…
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1 Seeking to Halt and Reverse Fibrotic Diseases 21:15
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Idiopathic pulmonary fibrosis is a serious, life-limiting lung disease characterized by fibrosis and scarring of lung tissue. Patients generally live only about three to five years after a diagnosis. Approved therapies can slow down the progression of the disease, but no available therapies halt or reverse it. The only curative therapy is a lung transplant, an option that is available to only a small subset of patients. Promedior is developing an experimental therapy it believes may not only halt the disease, but reverse it. We spoke to Jason Lettmann, CEO of Promedior, about the company’s experimental therapy, how it works, and why it may have the potential to treat a wide range of fibrotic diseases.…
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1 Addressing the Complexities of Rare Disease with Centers of Excellence 26:15
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Patients with rare diseases often have a complex constellation of symptoms that require the care of multiple specialists. Getting access to the needed mix of physicians and counselors can represent geographic and scheduling challenges for patients and caregivers and create difficulties in coordinating care between specialists. One approach to addressing these needs has been the development of centers of excellence that can provide comprehensive and coordinated care for patients with experts in their condition. We spoke to Amber McCarthy, a Huntington’s disease social worker with UTHealth/UT Physicians in Houston, about the Huntington’s Disease Society of America’s Centers of Excellence, how these centers operate, and how they are transforming care for Huntington’s disease patients.…
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1 Using Cell Therapies to Restore Power in Mitochondrial Diseases 17:03
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Mitochondria are the powerhouses of the cell and play a central role in a number of rare diseases. Mitochondria have their own DNA and Minovia Therapeutics is seeking to develop cell therapies designed to repair damaged mitochondrial DNA using autologous stem cells that have been enriched with blood-derived mitochondria. We spoke to Natalie Yivgi Ohana, co-founder and CEO of Minovia, about the company’s mitochondria augmentation therapy, how it works, and why it may point the way for treating more common conditions, such as Alzheimer’s disease.…
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1 Passage Bio Betting on Penn Connection to Give It an Edge in Developing Gene Therapies 31:23
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Earlier this year Passage Bio announced its launch with $115.5 million in funding and a group of founders with a strong pedigree. The company’s founders include gene therapy pioneer James Wilson, pharmaceutical industry veteran Tachi Yamada, and former Alexion executive and OrbiMed Venture Partner Stephen Squinto. One point of distinction for the company is its unique partnership with the University of Pennsylvania and its Gene Therapy Program, which gives it access to technology developed there, as well as its preclinical translational science capabilities. We spoke Squinto, interim CEO of Passage Bio, about the company’s focus on rare monogenic CNS diseases, its relationship with Penn, and why he’s confident with strong data, discussion with payers will not be a problem.…
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1 Finding Appropriate Endpoints and Measures for Rare Eye Diseases 24:12
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AGTC is developing gene therapies to treat patients with rare inherited eye conditions. It has multiple programs it is advancing to restore visual function in patients with diseases that threaten to leave them blind. One issue that has emerged, though, is finding the right measures and endpoint for its clinical studies and getting the U.S. Food and Drug Administration to recognize the traditional endpoints and measures used for eye diseases may not be well suited for all of these conditions. We spoke to Sue Washer, CEO of AGTC, about the company, the indications it is pursuing, and its efforts to find and use more appropriate endpoints for its studies.…
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1 Marrying Antibodies and Oligonucleotides to Target Genetic Medicine 20:46
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Avidity Biosciences is pioneering antibody oligonucleotide, a new class of therapeutics that marry the target selectivity of monoclonal antibodies with the precision of genetic medicine. The company is focusing on treatments for rare muscle disorders including myotonic dystrophy type 1 and Duchenne muscular dystrophy. We spoke to Art Levin, executive vice president of research and development at Avidity Biosciences, about the company’s therapeutic approach, why it’s focusing on rare muscle disorders, and the path forward for its therapies.…
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1 What Rare Disease Patients Should Understand about Genetics 26:16
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Global Genes Rare University is rolling out a new online course aimed at helping rare disease patients and families understand the world of genetics. The course, which is free, starts with the basic genetic concepts for rare disease, and them moves to family and heredity, genetic testing, and scientific advances. We spoke to Holly Snyder, a lead editor on the Rare University genetics course and senior genetic counselor at Illumina, about what rare disease patients and their families should understand about genetics, genetic testing, and why genetic literacy matters.…
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1 Program Seeks to Drive Collaborative Research Model Among Rare Disease Groups 26:24
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For rare disease patient groups seeking to drive research toward the development of therapies, many obstacles exist. By setting an overarching research agenda, driving collaborations among researchers, and sharing what is learned, patient groups are getting the most out of limited budgets and accelerating the time it takes to develop new treatments. The newly announced Rare As One Project from the Chan Zuckerberg Initiative seeks to help rare disease patient organizations apply the collaborative research model and improve on it. We spoke to Tania Simoncelli, science policy director of the Chan Zuckerberg Initiative, about the program, how it works, and what the organization hopes the long-term effects of its efforts will be.…
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1 A Gene Hunter Becomes a Drug Hunter Too 21:39
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Wendy Chung and her lab have proven a talent for identifying new rare diseases. She and her team have discovered more than 44 genetic conditions to date. But Chung, a professor of pediatrics and medicine at Columbia University and New York-Presbyterian Hospital, and director of the clinical genetics program at Columbia University, is driving beyond discovery to help patients find therapeutic alternatives for these conditions at Columbia University’s Center for Rare Pediatric Genetic Diseases. We spoke to Chung about the Center, how it works to find new treatments for rare diseases, and what hopes she has for scaling and accelerating the search for new therapies treat rare diseases with small populations.…
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1 The Psychological Toll Rare Diseases Can Have on Healthy Siblings 17:56
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The emotional impact a rare disease can have on siblings of children with these conditions can be significant. A sibling voices survey evaluating the psychological effects of growing up with a sibling with severe epileptic encephalopathies presented at the European Congress on Epileptology last year suggests these children may be as risk for anxiety or depression. We spoke to Lauren Schwartz, a psychologist at the Rehabilitation Medicine Clinic at UW Medical Center, about the study, what it found, and what parents should take away from it.…
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1 Blood Test Can Provide Earlier Diagnosis of Autism Spectrum Disorder 23:31
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Early diagnosis and intervention can improve outcomes for children with autism spectrum disorder but arriving at a diagnosis can be difficult at an early age. To diagnose the condition, doctors have relied on behavioral tests and the average age of diagnosis in the United States is more than 4 years. NeuroPointDX has developed a diagnostic test that looks at metabolic imbalances in the blood that can diagnose a child with the condition as young as 18 months. We spoke to Elizabeth Donley, CEO of Stemina Biomarker Discovery and NeuroPointDX, about the condition, how the company’s test works, and what it might suggest about the biology of the condition.…
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1 Understanding the Role of Natural History Studies in Clinical Trials 27:34
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Natural history studies track the course of a disease over time, helping researchers understand the different ways a condition may manifest itself and progress. These studies can also provide insight into whether patient populations should be divided into subtypes for more targeted therapeutic approaches. Such data often represents a foundational understanding of a disease that can play an essential role in the design of clinical trials, helping investigators determine appropriate protocols and select endpoints for a study. In some cases, natural history studies can serve as an alternative to a placebo arms of a clinical trial. Ahead of the upcoming Rare Drug Development Symposium, we spoke to Erika De Boever, deputy director of the Orphan Disease Center at the University of Pennsylvania School of Medicine, about natural history studies, the different types that exist, and why they play such a critical role in clinical trials for rare diseases.…
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1 How Two Mothers Discovered That a Drug for One Rare Disorder Might Benefit Another 28:08
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When Lara Pullen’s son was diagnosed with Prader-Willi syndrome, she began to dive into the scientific literature about the rare condition. Pullen, a scientist and co-founder of the Chion Foundation, discovered that pitolisant, a recently approved drug for narcolepsy, might benefit patients with Prader-Willi. Working with her Chion co-founder Maria Picone, who developed an online data-gathering platform for patient-reported outcomes, they tracked the effects of the drug in three patients. In a clinical vignette published in the Journal of Pediatric Pharmacology and Therapeutics in April, they reported their findings. We spoke to Pullen about her efforts, the value of patient-reported outcomes, and why the work she’s done suggests the need for a more neurologically-based approach to treating Prader-Willi.…
One reason for the extended diagnostic odyssey that rare disease patients face is that doctors are often unfamiliar with the rare conditions they may have. In addition, doctors are trained to think of the likeliest explanation for a patient’s symptoms, which may be similar to those of more common diseases. London-based Mendelian is working to bring machine learning to the rare disease diagnostic process as a way to identify patients whose symptoms may suggest they have an underlying rare genetic disease and provide a path forward to finding an answer. We spoke to Rudy Benfredj, co-founder and CEO of Mendelian, about the diagnostic challenge rare disease patients face, the company’s platform technology, and whether he thinks we’ll see an end to the diagnostic odyssey anytime soon.…
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1 Eliminating Barriers to Adoption of Children with Rare Diseases 23:23
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Children awaiting adoption with a rare disease may go untreated or receive minimal treatment. If they go unplaced, they may face life in a long-term care facility, or nursing home. Gift of Adoption is a nonprofit that provides adoption assistance grants to help vulnerable children find a permanent home and the chance to thrive. We spoke to Pam Devereux, CEO of Gift of Adoption, about the cost of adoption, how her organization works, and the need it is seeking to address.…
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1 A Young Rare Disease Advocate Discusses Life with an Undiagnosed Condition 18:02
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April 29 is Undiagnosed Rare Disease Day. It is a day when advocates raise awareness among the general public and policy makers about the emotional, physical, and financial impact living with an undiagnosed rare disease has on patients and their families. Ahead of this year’s Undiagnosed Rare Disease Day we spoke with Ava Szajnuk, an 11-year-old undiagnosed rare disease patient and advocate, about how her condition impacts her daily life, and the work she’s done as an advocate.…
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1 The Benefits of an Open-Source Registry for Rare Diseases 21:09
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The Foundation for Angelman Syndrome Therapeutics Australia says it has created a Global Angelman Syndrome Registry that gives parents and caregivers the power to drive the collection of data. Its goal is to make the registry the largest collection of information about the neurological disorder to date and use it to inform the research for new therapies by providing insights into the developmental progress, medication, and seizure management related to the condition. One unique aspect of the registry is that it uses an open-source framework developed by Centre for Comparative Genomics at Murdoch University in Perth, Australia. We spoke to Meagan Cross, chairperson of the Foundation for Angelman Syndrome Therapeutics Australia, about Angelman syndrome, the efforts to build the registry, and why the use of an open-source platform can help address barriers rare disease organization face in creating registries.…
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1 How a Patient Group Helped Drive Drug Development in Rett Syndrome 34:25
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Rett syndrome is a genetic disorder that mostly affect girls and is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. A study recently published in the journal Neurology reports encouraging results from a mid-stage clinical trial for an experimental therapy to treat the condition. The patient organization Rettsyndrome.org played a key role in identifying the potential application for the drug in Rett syndrome and provided early funding. We spoke to Steve Kaminsky, chief science officer of Rettsyndrome.org about the drug, the role his organization has played in its development, and how it may one day change the landscape for patients with the condition.…
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1 How Misperceptions Can Create Barriers to Care 37:58
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Sickle cell disease is the most common inherited blood disorder in the United States. People with the condition have sickle-shaped red blood cells and these misshaped cells can block the flow of blood and oxygen to organs throughout the body. These blockages can cause severe pain, organ damage, and strokes. While the disease is well understood, treatment options today are limited and obtaining proper care can be complicated by healthcare workers' lack of understanding of the disease, racism, and a misconception that the condition only affects African Americans. We spoke to Marqus Valentine, co-founder of Sick Cells, and Doris Polanco, a member of the Sickle Cell Thalassemia Patients Network, about sickle cell disease, their experiences with the condition, and how ignorance about the disease affected their care.…
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1 Targeting Repeat Expansion Disorders with Next-Gen Antisense Drugs 25:56
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A number of rare, genetic diseases including Huntington’s disease and myotonic dystrophy belong to a group of conditions known as repeat expansion disorders. Though it's normal to have pieces of repeating genetic code, these diseases involve an abnormally high number of repeats that result in the production of toxic proteins. NeuBase Therapeutics is using its platform technology to produce antisense drugs that it believes have distinct advantages over existing antisense drugs today. NeuBase recently announced a reverse merger with Ohr Pharmaceutical that propels the pre-clinical stage company onto the Nasdaq market. We spoke to Dietrich Stephan, CEO of Neubase, about repeat expansion disorders, the company’s platform technologies, and why he believes it has distinct advantages over existing therapies that target RNA.…
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1 Getting Misfolding Proteins to Shape Up 24:29
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Transthyretin is a protein found in the blood. Its name reflects its function, which is to transport thyroxine and retinol. In the case of a number of rare conditions, the protein becomes unstable and misfold, causing it to accumulate as toxic protein deposits in the heart or peripheral nerves. Eidos Therapeutics, a subsidiary of BridgeBio, is developing an experimental small molecule drug that binds and stabilizes transthyretin in the blood. We spoke to Jonathan Fox, chief medical officer of Eidos, about the rare diseases it is targeting, the treatments available today, and how it may change the landscape for these conditions.…
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1 A Different Approach to Inhibiting the Complement System 18:11
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The complement system, part of the immune system, has long been used as a target for interventions in certain rare disease. Apellis Pharmaceuticals is developing therapies to treat rare blood and kidney diseases, but by targeting a different part of the complement system than available therapies do today. We spoke to Cedric Francois, co-founder, president and CEO of Apellis, about the complement system, Apellis’ approach, and why he thinks this will lead to better therapies for these rare diseases.…
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1 Looking Back in Time to Find Rare Disease Patients Today 24:47
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One of the challenges rare disease advocates face in advancing research and treatments is finding the patients needed to understand the natural history of a disease and participate in clinical trials. That’s true for cavernous angioma, a formation of abnormal blood vessels in the brain and spinal cord with leaky walls that can cause seizures, stroke symptoms, hemorrhages, and headaches. The Angioma Alliance, though, has hit on an unusual strategy to find patients with the condition to build its registry as clinical trials for potential treatments get under way. We spoke to Connie Lee, president and CEO of the Angioma Alliance, about the condition, the start of the first clinical trial for a potential treatment, and why the history of a family who came to New Mexico in 1600 is helping identify patients with the condition today.…
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1 Ionis CEO Stanley Crooke Discusses Success as a Platform Technology Company 34:12
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As CEO of Ionis Pharmaceuticals, Stanley Crooke has been a pioneer in the development of antisense drugs and oversees one of the industry’s largest and most advanced pipelines. Antisense drugs are compelling for rare diseases because of their ability to selectively target specific RNA sequences. These drugs, such as the company’s treatment for spinal muscular atrophy, Spinraza, are transforming the outlook for rare disease patients. We spoke to Crooke about Ionis’ ability to succeed as a platform technology company, why he thinks gene therapy will not pose a threat to the company’s antisense platform, and why he sees the value of these therapies withstanding growing pricing pressures.…
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1 Orchard Looks toward Harvesting Expanded Gene Therapy Pipeline 18:18
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It was about ten months ago that Orchard Therapeutics acquired the gene therapy portfolio of GSK, expanding its pipeline and giving it its first approved therapy. We spoke to Orchard CEO Mark Rothera about his company’s approach to gene therapy, its pipeline, and what he sees as the biggest challenges as Orchard moves towards commercializing its therapies.…
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1 Connecting Rare Disease Patients in India and the United States 34:17
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Harsha Rajasimha was a post-doctoral researcher at the National Institutes of Health when he lost a newborn child to a rare disease. As he entered the world of patient advocacy, he connected with rare disease patients in his homeland of India. Discussions he had there led him to co-found the Organization for Rare Diseases India and the Organization for Rare Diseases India, USA; an effort to bridge the gulf between rare disease patients in the two countries. We spoke to Rajasimha about the rare disease landscape in India, the opportunities for India to drive development of new therapies for rare disease, and what his organizations are doing to foster cooperation between rare disease patients in India and the United States.…
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1 Regenerative Medicine Moves into the Spotlight 27:30
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The regenerative medicine sector won major product approvals, advanced a growing pipeline of therapies in development, and enjoyed a surge of investment in 2018. As excitement grows about the potential of these therapies, the industry is also wrestling with complex policy issues that could determine how sustainable these businesses will be and whether patients will ever get to benefit from the potential cures that may soon be within reach. We spoke to Matt Patterson, chairman of the Alliance for Regenerative Medicine, about the state of the industry, ongoing debates about pricing and payment models, and what the industry will need to do to educate patients and policymakers about this emerging area of medicine.…
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1 Learning New Tricks from Pathogenic Bacteria to Target the Microbiome 29:54
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The microbiome, the community of bacteria that live within and on our bodies, has become an area of increasing interest to drug developers, who see the potential to both target these microorganisms and exploit them for therapeutic benefit. Scioto Biosciences has developed a biofilm platform that it believes can better deliver and protect beneficial bacteria to treat disease. The lead indication the company is pursuing is necrotizing enterocolitis, a rare condition primarily afflicting premature newborns that causes portions of the bowel to die. We spoke to Joe Trebley, CEO of Scioto, about the microbiome, the company’s platform technology, and how it is exploiting something usually thought of in the context of pathogenic bacteria to help beneficial bacteria thrive.…
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1 Orphan Drug Accelerator Spin-Out Tackles Rare Endocrine Disorders 15:59
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Tiburio Therapeutics emerged from the orphan drug accelerator Cydan at the start of 2019. The company is developing two clinical stage compounds for rare endocrine disorders that it licensed from Ipsen. We spoke to Tiburio Therapeutics CEO Abraham Ceesay, about rare endocrine disorders, the company’s pipeline, and the case for Cydan’s business model.…
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1 Aspa Therapeutics Forges Gene Therapy for Rare Neurological Condition 30:53
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Aspa Therapeutics is a subsidiary of Bridge Bio that was created to develop a gene therapy to treat Canavan disease, a progressive and fatal neurological disorder for which there is no approved therapy. Canavan is caused by a genetic mutation that results in an enzyme deficiency. We spoke to Eric David, CEO of Aspa, about the condition, the company’s experimental gene therapy, and the benefits of Bridge Bio’s approach.…
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1 How Patient-Led Collaborations Are Transforming Rare Disease Drug Discovery and Development 21:25
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Patient-led collaborations are transforming drug discovery and development in rare disease. How they are doing this will be the topic of a panel discussion at the 2019 Biotech Showcase in San Francisco January 8 at 4:30 p.m. Ahead of that panel, we spoke to Walt Kowtoniuk, principal at Third Rock Ventures and moderator of the panel to discuss the challenges of rare disease drug discovery and development, how patient-led collaborations are addressing these challenges, and how patient involvement can change the risk profile of drug development to attract drug company partners and investors. For information on the panel or to register, go to www.globalgenes.org/rareinthesquare…
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1 Sobi Expands Its Immunology Franchise with HLH Drug Approval 17:03
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Last month, the U.S. Food and Drug Administration approved Sobi’s Gamifant to treat HLH, an ultra-rare condition characterized by hyperinflammation with high morbidity and mortality. The approval strengthens Sobi’s immunology franchise in the United States. We spoke to Rami Levin, president of Sobi North America, and Carol Satler, vice president of medical affairs for Sobi, about HLH, the significance of the Gamifant approval, and how it fits in with the company’s broader strategy.…
Collaboration is critical to addressing problems faced by the rare disease community, but too often collaborations between advocacy organizations turn sour because of miscommunication, a lack of trust between partners, or when unnecessary competition trumps cooperation. A group of rare disease advocacy organizations, including Global Genes, earlier this year launched the THRIVE initiative (https://www.thriveforrare.org/), an effort to foster cooperation between rare disease groups and address the behaviors that too often undermine the work of the community. We spoke to Amy Brin Miller, executive director of the Child Neurology Foundation and co-founder of THRIVE, about the initiative, how it came about, and the problem it’s trying to address.…
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1 Late-Stage Trial Underway for Treatment of Rare Obesity Disorder 17:05
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Prader-Willi syndrome is a rare genetic disease with many effects, but it is characterized by an insatiable drive to eat that leads to overeating and obesity. Soleno Therapeutics is in late-stage clinical testing of a treatment for the intense hunger and overeating in patients with Prader-Willi. We spoke to Anish Bhatnagar, CEO of Soleno, about its experimental therapy, how it works, and why it may have application in a broader range of indications.…
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1 RegenxBio Bets Its Gene Therapy Technology Provides Competitive Edge 24:22
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The U.S. Food and Drug Administration recently granted gene therapy developer RegenxBio Orphan Drug designation for its experimental gene therapy to treat CLN2 disease, a form of Batten disease, a rare and deadly condition that progressively robs children of their abilities until they die. The gene therapy is one of 12 clinical programs and 20 partnered programs RegenxBio is advancing. We spoke to Ken Mills, CEO of RegenxBio, about CLN2 disease, the company’s next-generation gene therapy platform, and why he believes it offers advantages over other AAV gene therapies.…
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1 The Potential for Digital Health Technologies to Transform Clinical Trials 25:55
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LBSL, a rare genetic disorder that affects the brain and spinal cord, was first identified in 2004. While there are no treatments available today, researchers are working to understand the condition and develop therapies. One ongoing study at Kennedy Krieger Institute is using digital health technologies to remotely test people with the condition and provide a roadmap towards a therapy. We spoke to Ali Fatemi, director of the Moser Center for Leukodystrophies at the Kennedy Krieger Institute, about the study, his use of digital health technologies, and their potential to transform the way researchers conduct clinical trials.…
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1 Matching Volunteers to Rare Disease Organizations in Need 20:50
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Many rare disease organizations are resource constrained and depend on the kindness of volunteers to provide specialized services and capabilities that they may not have in-house. Sean Gordon, a high-tech sales and marketing specialist, discovered the need after he was diagnosed late in life with a rare disease. His solution has been to create the Rare Funding Team, a free service that matches rare disease organizations to volunteers. We spoke to Gordon about his own diagnosis, the work he does through the Rare Funding Team, and the need he is trying to fill.…
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1 How One Rare Disease Organization Used Technology to Provide Greater Patient Insight to FDA 18:39
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When the Hereditary Neuropathy Foundation set up a patient focused drug development meeting with the FDA, it knew that patients with Charcot-Marie-Tooth disease face difficulty providing written comments because of the impact of the disease on their ability to write or type. Working with a technology company, the organization was able to gather patient feedback using voice technology that allowed them to report comments over the phone through an automated system. We spoke to Allison Moore, CEO of the Hereditary Neuropathy Foundation, about the use of this technology, how it works, and why it may benefit patients with many other conditions.…
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1 The Potentially Deadly Consequences of an Oversight in Newborn Screening Tests 23:38
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When Jon Miller’s son was born doctors failed to diagnose a rare and deadly medical condition despite using newborn screening that was supposed to detect it. Doctors told him his infant was going to die. His son was diagnosed correctly in time as having tyrosinemia, a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, the result of an enzyme deficiency. The experienced led Miller to create NOTA, the Network of Tyrosinemia Advocates. We spoke to Miller about his advocacy, the need for addressing a problem with newborn screening, and why from the earliest days his organization has fought for access to needed medications for tyrosinemia patients around the world.…
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1 Advancing a New Approach to Sickle Cell Disease 21:34
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Sickle cell disease is a rare, genetic condition that causes red blood cells to become misshapen and damaged. The condition activates immune cells and blocks blood flow in capillaries, causing injury to many organs and pain daily. Imara is developing an experimental therapy that can prevent the sickling of the red blood cells and also reduce the adhesion of white blood cells to reduce blockage of the blood vessels. We spoke to Rahul Ballal, CEO of Imara, about the therapy, the class of drugs it belongs to, and what the company has done to enroll a population of patients traditionally underrepresented in clinical trials.…
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