Description

📝Full show notes: https://syngap.fund/n147 

FDA Talk this week!  Thank you Beacon! https://syngap.fund/fda24   

SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun.  JK & JJ are amazing. 

https://curesyngap1.org/team/leadership-team/jackie-kancir/ 

ADULT ADVOCACY

SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult

Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/

WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/

LEVERAGE PARTNERS

https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/

Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/

SCIENCE TEAM

PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data

PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis

PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight

PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel

PROJECT FACILITATE - Tools and Reagents - Mice work in flight

RESEARCH UPDATE

There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024!  We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers.  I’ve seen multiple papers being submitted lately, it’a actually hard to keep up.   LINK

LATEST PAPER: https://www.eurekalert.org/news-releases/1053579

WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/

FUNDRAISERS!

Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/ 

3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)

Smarts for Syngap - DC Trivia Night - 24 Days!

Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,684

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

Emmy $6,449

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research 

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

CALENDAR MANAGEMENT

Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)

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

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

Cafe Syngap1 #17

https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811Episode 147 of #Syngap10 - Sunday, August 11th, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1