EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
May 23, 2024
Join us in welcoming back a familiar voice, Allison Watson, to The Genetics Podcast. We first spoke to Allison on the podcast back in October 2019 about her work in ring chromosome 20 syndrome (also known as r(20) syndrome). Allison is the Co-founder and CEO of Ring 20 Research and Support UK CIO, a patient advocacy organisation focused on awareness and research for ultra rare r(20) syndrome epilepsy. Tune in as she tells us about developments in the advocacy space for r(20) syndrome over the past four years and landmark moments for research into the condition.v
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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