Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143

📝Full show notes: https://syngap.fund/n143  

 

BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp 

GRANTS APPROVED

Multiple grants and agreements approved, wait for press releases.  Thank you Aaron & Sarah, Lauren!

FUNDRAISING

 - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth.  Also Dr Jillian McKee!

 - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.

 

NHS UPDATE

Colorado should start seeing patients in August!  Don’t cancel CHOP appointments, some people have no choice.

 

CHATS WITH INDUSTRY

Prevalence: 

They are easily missed.  The math is clear.  Lots of data.  1% of ID = 35k+

1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.

5/100k = 180. A YEAR.

Caren is 65.

36 x 65 = 2,340 PTVs vs 400 SRF knows about)

https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/

 

CALENDAR MANAGEMENT

Rare Across America is 28 days away, register now:

https://everylifefoundation.org/rare-advocates/rare-across-america/ 

 

Conference is 170 days away & 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 

 

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

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)

 

SHOUTOUTS

 - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/

 - We need a Pavel award.

 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,030 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 10,421 Twitter https://twitter.com/cureSYNGAP1

 - 3,652 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 49k Insta https://www.instagram.com/curesyngap1/
- 397 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 143 of #Syngap10 - June 18, 2024

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