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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
Sunday Sep 18, 2022
Sunday Sep 18, 2022
GLOBAL GENES WAS GREAT
Panel was impressive, will be sharing when recording is live, one point was small molecules…
#GlobalGenes #CareAboutRare
EVENTS ARE COMING
3 weeks!
October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap
8 weeks!
November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree
11 weeks!
December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat
RAREBASE
Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s
We are investing in small molecule repurposing as fast as we can. Four lines…
Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022!
LINK#UFDtech #CannonballForTheCure #RareBase
NOSPHARMA
Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8
Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible.
…from https://www.linkedin.com/company/nospharma/
#NOSpharma
SIMONS/INVITAE PARTNERSHIP
Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF.
https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html
Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122
#SimonsFoundation #Autism #Invitae #ciitizen
Satterstrom paper associates SYNGAP1 with Autism strongly
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/
See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1
AUTISM BRAIN NETWORK
Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/
etc.
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 75 of Syngap10 - September 18, 2022
#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
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