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EP 136: Developments in ring chromosome 20 research and advocacy with Allison Watson
Manage episode 419806035 series 2631947
Content provided by Sano Genetics. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Sano Genetics or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.
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!
190 episoade
Distribuie
Manage episode 419806035 series 2631947
Content provided by Sano Genetics. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Sano Genetics or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.
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!
190 episoade
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…
continue reading
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…
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