EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson

The Genetics Podcast

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1M ago 40:57

MP3•Beranda episode

0:00 Introduction

2:00 Allison’s personal journey to researching epilepsy and ring chromosome 20 syndrome

4:00 Biggest challenges families face with ring chromosome 20 syndrome

11:00 Incidence and prevalence of r(20) syndrome, and how we can improve data reliability

21:00 Applying next generation sequencing to r(20) syndrome gene research

29:00 Engaging in partnerships to broaden participant pools and academic research

31:00 Facilitators and challenges of patient-led research: PLRH.org

35:00 Common causes with other patient organisations, and the origin of the UK Rare Epilepsies Together Network

42:00 Closing remarks

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