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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
Tuesday Feb 25, 2025
Tuesday Feb 25, 2025
We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162
Tuesday, February 25, 2025 - Week 9
ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week
SPRINT4SYNGAP - April 26, 2025
Webinar: cureSYNGAP1.org/S4S25
Guide: cureSYNGAP1.org/S4SGuide
LEVERAGE ON OUR GRANTS
STUDY OF THE WEEK - Email syngap-study@beacon.bio
Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/
Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing
IMPACT REPORT
NL43 cureSYNGAP1.org/NL43
ONLINE DID YOU KNOW
We have a calendar now! https://curesyngap1.org/calendar/
Brochure is updated: cureSYNGAP1.org/Brochure
YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2
COMPANY OF THE WEEK - Stoke & Biogen!
STK ($0.45Bn) partners with BIIB ($20.5Bn)
#SpecialNeedsTRAVEL
e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories
Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V
RESEARCH UPDATE
There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 10 (Coller included) for 2025.
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded
- Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290
VOLUNTEER SPOTLIGHT
Toby and John Brimsek are tireless. Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25
REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/
https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full
SOCIAL MATTERS
- 3,937 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1.28k YouTube. https://www.youtube.com/@CureSYNGAP1
- 11.5k Twitter https://twitter.com/cureSYNGAP1
- 46.6k Insta https://www.instagram.com/curesyngap1/
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 162 of #Syngap10
#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1
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