Discover this podcast and so much more

Podcasts are free to enjoy without a subscription. We also offer ebooks, audiobooks, and so much more for just $11.99/month.

Why we need to keep talking about SYNGAP1 #S10e91

Why we need to keep talking about SYNGAP1 #S10e91

FromSynGAP10 weekly 10 minute updates on SYNGAP1


Why we need to keep talking about SYNGAP1 #S10e91

FromSynGAP10 weekly 10 minute updates on SYNGAP1

ratings:
Length:
10 minutes
Released:
Jan 31, 2023
Format:
Podcast episode

Description

Press is good! 
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362


Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
 
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
 
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/ 
- Sign-UP https://ciitizen.com/syngap1 
 
Conference Videos are up from Science Day!
https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable
Grant applications due March 1, 2023
https://www.syngapresearchfund.org/professionals/grants/how-to-apply
Priority Areas:
- Biomarkers & Endpoints
 - VUS Resolution
- Characterizing SYNGAP1 patients in the literature
 - SYNGAP1 Translational Science

Help Research with this brief survey.  Tell a friend and share these links - 200 & counting, $50 each. 
- Short link: https://syngap.fund/UCSF_survey
- Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund
 
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 
- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: 
- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 91 of #Syngap10 - January 31,  2023 
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Released:
Jan 31, 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/