The Genetics Podcast
EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
Episode notes
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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