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Over 1200 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/
Episodes
Thursday Dec 30, 2021
Thursday Dec 30, 2021
2021 by the numbers, 985 patients counted, exciting work ahead!
- Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers
- The #SyngapCensus is at 985! https://syngap.fund/census
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US!
- Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a
Episode 41 of #Syngap10 - December 31, 2021
#phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
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