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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
Friday Dec 17, 2021
Friday Dec 17, 2021
Episode 40 of #Syngap10 - December 17, 2021
- Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466
- Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!
- Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL
- ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure
- Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha
- Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/
- Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096
- phenylbutyrate
-https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf
-https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1
-Start at 40:40 https://vimeo.com/610301620
- Raise some money! https://srf.salsalabs.org/srfdidyouknow
- What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1
- 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
#phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
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