Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

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.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/

    -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