UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150
📝Full show notes: https://curesyngap1.org/podcasts/syngap10/
 
FRAZIER STUDY
https://Syngap.Fund/Eye2 [email protected] 
 
Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 
SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing 
 
We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/
 
Chronic Grief 
Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/
Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w

 
Conference - Conference is 72 days away
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf
Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A
Sponsor alongside Jones, Wieczrek and Graglia.  

 
PR out this week 
Lacoste (https://Syngap.Fund/PR28)
https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/
Devinsky (https://Syngap.Fund/PR29)
https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/

 
UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh! 
September 23 3:00 Eastern to Sept 30 noon. 
https://www.justgiving.com/page/ufd-2024
https://www.youtube.com/watch?v=DtOyV2FNJ-s

 
PRESS ABOUT FOF (Friends of the Fund)
Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome
 
RESEARCH UPDATE
There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024!  Now tied for 2nd place with 2009, 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:
Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false



Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2

 
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!  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
 
Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/
TV! https://www.wspa.com/your-carolina/scramble-for-syngap/
 
SynGAP Research Fund Gala - 24 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 $8,173
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research 
Charmander $5,303
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
 
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
 - 1,140 YouTube.  https://www.youtube.com/@CureSYNGAP1 
 - 3,789 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,736 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 439 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 Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 150 of #Syngap10 - Tuesday, September 24th, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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