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Over 1200 families are caring for a loved one with the rare disease āSynGAPā resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
Tuesday Jun 18, 2024
Tuesday Jun 18, 2024
šFull show notes: https://syngap.fund/n143Ā Ā
Ā
BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-MeypĀ
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases.Ā Thank you Aaron & Sarah, Lauren!
FUNDRAISING
Ā - 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.Ā Also Dr Jillian McKee!
Ā - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
Ā
NHS UPDATE
Colorado should start seeing patients in August!Ā Donāt cancel CHOP appointments, some people have no choice.
Ā
CHATS WITH INDUSTRY
Prevalence:Ā
They are easily missed.Ā The math is clear.Ā Lots of data.Ā 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)
Ā
CALENDAR MANAGEMENT
Rare Across America is 28 days away, register now:
https://everylifefoundation.org/rare-advocates/rare-across-america/Ā
Ā
Conference is 170 days away & Registration is live!
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Ā
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)
Ā
SHOUTOUTS
Ā - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/
Ā - We need a Pavel award.
Ā
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
Ā - 1,030 YouTube.Ā https://www.youtube.com/@CureSYNGAP1Ā
Ā - 10,421 Twitter https://twitter.com/cureSYNGAP1
Ā - 3,652 LinkedIn.Ā 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
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