EP 136: Ring chromosome 20 research and advocacy with Allison Watson | The Genetics Podcast скачать в хорошем качестве

EP 136: Ring chromosome 20 research and advocacy with Allison Watson | The Genetics Podcast

Summary: 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. Show 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 Please consider rating and reviewing us on your chosen podcast-listening platform!