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

The Genetics Podcast

Sano Genetics에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 Sano Genetics 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.

4M ago 40:57

MP3•에피소드 홈

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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182 에피소드

#Science #Natural Sciences #Sano Genetics #Genetics #Precision Medicine #Personalised Medicine #Personalized Medicine #Biology #DNA #Gene