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

Описание: ► 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