Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149
📝Full show notes: https://syngap.fund/n149
FRAZIER STUDY
https://Syngap.Fund/Eye2 [email protected]
SRD JOINS CFC #33321
https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
PRESS ABOUT FOF (Friends of the Fund)
Praxis https://firstwordpharma.com/story/5891543
RESEARCH UPDATE
There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain.
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Three papers to note:
- Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/
- Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/
- Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE
CHRONIC GRIEF
We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families.
VOLUNTEER
https://curesyngap1.org/volunteer-with-srf/
FUNDRAISE
https://syngap.fund/FR – https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!
Smarts for Syngap – DC Trivia Night – Congratulations
Scramble for Syngap – 26 days! – October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/
TV! https://www.wspa.com/your-carolina/scramble-for-syngap/
SynGAP Research Fund Gala – 39 days! – October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/
Missense Account of the Fund $23,684
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
Emmy $8,147
Charmander $5,150
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
CALENDAR MANAGEMENT
Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live!
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Conference Registration – 89 for Science Day & 88 for Family Day (incl 19 patients)
CB Blood Donation accelerates Science! These samples are being used today!
PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)
COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)
SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)
https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024
SOCIAL MATTERS – AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
– 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1
– 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/
– 11,600 Twitter https://twitter.com/cureSYNGAP1
– 48k Insta https://www.instagram.com/curesyngap1/
– 429 TikTok https://www.tiktok.com/@curesyngap1
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
Podcasts, give all of these a five star review!
SRF Channel – https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 149 of #Syngap10 – Monday, September 9th, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
