EP 176: Hunting rare kidney disease mutations with Anthony Bleyer of Wake Forest and Stan Kmoch of Charles University

The Genetics Podcast

This week on The Genetics Podcast, we’re celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick’s.

Show Notes:

0:00 Intro to The Genetics Podcast

00:59 Welcome to Anthony and Stan

02:05 The origin story for Anthony and Stan’s long-distance collaboration

06:55 Stan’s background in metabolic disorders and sequencing techniques

11:09 Common genetic culprits and barriers to identifying mutations that cause kidney disease

14:01 Background and findings from Anthony and Stan’s ApoA4 study

23:54 Potential therapeutic avenues based on the ApoA4 study

26:49 Current and future focuses for characterizing diseases in families

30:42 Working with collaborators internationally to access large databases and registries

33:05 Innovative transplant methods, including genetically-modified pig kidneys

36:36 Closing remarks and a heartfelt thank you to researchers and families driving rare disease research

Find out more

• Latest study: https://doi.org/10.1016/j.kint.2023.11.021

Please consider rating and reviewing us on your chosen podcast listening platform!

https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link