SynGAP Research Fund - Heather Mefford - From gene discovery to therapy - скачать в хорошем качестве

SynGAP Research Fund - Heather Mefford - From gene discovery to therapy -

► Learn more about SynGAP research at: https://www.syngapresearchfund.org In this video Dr Heather Mefford presents SYNGAP1: The Road from Gene Discovery to Targeted Therapy. Dr. Mefford is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children's Hospital in the Genetic Medicine Clinic. Dr. Mefford’s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). She hopes to create better diagnostic tools and treatments for patients who have health conditions with an underlying genetic cause. The Mefford lab has discovered numerous new epilepsy genes. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders. Her clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology. Dr. Mefford relies on precision medicine to provide the most useful treatment options for patients and their families. Chapters: 00:00 Welcome 02:50 Overview of talk 05:07 Why does a genetic diagnosis matter? 06:48 Epilepsy genes 08:05 How do we improve our understanding of the genetics of epilepsy? 08:21 Genetics 101 11:47 Splicing axons together 12:30 How do we find the spelling errors? 13:56 Developmental and Epileptic Encephalopathy 15:17 Who do we study? 16:22 Is the genetic change causing disease? 18:08 Epilepsy genes: 2020 19:07 SYNGAP1 in intellectual disability 20:35 SYNGAP1 in epilepsy 22:31 SYNGAP1 - the variants 22:44 SYNGAP1 - mechanism? 25:44 Gene discovery in DEE 26:30 What does genetics tell us? 27:02 How do we go from a genetic diagnosis to a precision therapy? 27:31 Precision therapy: mechanism matters 30:13 Emerging therapies 33:34 ASO therapy for SCN1A 37:31 ASO therapy: SCN8A-related epilepsy 39:57 ASO & Gene therapy: considerations 42:06 From diagnosis to therapy 43:51 Q&A --- ► Follow SRF on twitter:   / curesyngap1   ► Like SRF on Facebook:   / curesyngap1   ► Connect with Syngap Global Network for family support (Global):   / syngapglobalfamilysupport   ► Connect with SRF for family support (North America):   / syngapresearchfund   #syngap1 #SRFWebinar #timeisbrain #IntellectualDisability #LearningDisability #epilepsy #autism #hypotonia #syngap #cureSYNGAP1