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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
Wednesday Feb 12, 2025
Wednesday Feb 12, 2025
Tuesday, February 11, 2025 - Week 7
IMPACT REPORT IS OUT!
Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/
STUDIES OF THE WEEK - BEACON DREEM
COLORADO CHILDREN'S HOSPITAL - April & May
https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/
STANFORD ARTICLE ON SYNGAP1 SEIZURES
https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/
Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175
RESEARCH UPDATE
There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 8 (but reall 9 if you count Coller) for 2025.
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded
- Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability
- https://link.springer.com/article/10.1007/s10803-023-06162-9
ADVOCACY SHOUT OUT
Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/
Learn from the greats:
April 8 & 9 at St. Jude online
IN THE NEWS - Terry P on Kelly Clarkson Show
https://www.youtube.com/watch?v=yLcm0KcgZyc
FUNDRAISING MATTERS
Aaron: https://giving.classy.org/campaign/661441/donate
You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST
CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
- 3,925 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1
- 11,512 Twitter https://twitter.com/cureSYNGAP1
- 47k 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 161 of #Syngap10
#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1
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