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ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

FromSynGAP10 weekly 10 minute updates on SYNGAP1


ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

FromSynGAP10 weekly 10 minute updates on SYNGAP1

ratings:
Length:
13 minutes
Released:
Dec 6, 2023
Format:
Podcast episode

Description

ICD-11 = LD90.Y #LD90Y
https://x.com/cureSYNGAP1/status/1730629792137883800
 
Adult paper and study
https://x.com/AledoNeuro/status/1726206128390848604
 
AES - Lots of SYNGAP1 incl paper with ciitizen data
https://x.com/JillianLMcKee/status/1731420167672942878
 
RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers
 - Chow https://x.com/CNSdrughunter/status/1730233903602872424
 - VUS https://x.com/CNSdrughunter/status/1730268276989571512
 - Genetic Therapies https://x.com/dretico/status/1730298959824875741
 
FD23 - 60 Families from 16 Countries.  Awesome leadership.
 
Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca 
 
Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
 
Give all three of our podcasts 5 stars everywhere.  
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 
 
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

Episode 125 of #Syngap10 - December 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Released:
Dec 6, 2023
Format:
Podcast episode

Titles in the series (100)

Over 900 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/