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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 Jul 13, 2023
Thursday Jul 13, 2023
Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf
FASTERCURES
See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo
https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train
Census https://Syngap.fund/census - 1,238
CHOP
McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw
What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study
Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/
STUDIES
See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk
But also: UCLA - EEG - West Coast!
Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/
PODCASTS
Brain and Life 1 and 2
https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis
Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica
Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12)
Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011
Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012
CONFERENCE
Pre-registration link: https://Syngap.Fund/2023conf
Hotels ASAP: https://Syngap.Fund/2023hotel
Merch https://www.bonfire.com/srf-syngap1-conference-2023/
All this was in today’s newsletter! https://Syngap.Fund/News33
Ed is doing a great job with these, thank you Ed!
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 108 of #Syngap10 - July 13, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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