#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147
📝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=JDiD8Z3lWQk
Foundation: 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
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
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/
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
SOCIAL MATTERS – AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
– 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1
– 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/
– 11,168 Twitter https://twitter.com/cureSYNGAP1
– 48k Insta https://www.instagram.com/curesyngap1/
– 418 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
Cafe Syngap1 #17
https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811
Episode 147 of #Syngap10 – Sunday, August 11th, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
