1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

📝Full show notes: https://syngap.fund/n144  

 

CENSUS = 1,454 

https://curesyngap1.org/how-many-people-have-syngap1-census/

STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 

 

FUNDRAISING

Missense Account of the Fund

https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE
Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc 

Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ 

Emmy 

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/

 

PHARMA

https://www.longboardpharma.com/

http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy

 

CIRM

Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497 

Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx 

Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia 

 

HOPE - Caring for your SYNGAPian

Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ 

My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698

Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/

Heat is not good - We need a blog here…

Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/ 

 

CLINICAL NETWORK / NHS UPDATE

COLORADO webinar next week! https://syngap.fund/Abbott

July 11, 2024 at 9 Pacific.

 

CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

 

CALENDAR MANAGEMENT

Rare Across America is 34 days away, registration ends in 10 days!

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

 

Conference is 156 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 

 

SHOUTOUTS

JACKIE NEW ED OF NCSA

https://www.ncsautism.org/blog/ed

Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey… 

 

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)

 

NEWLY DIAGNOSED?

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

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,040 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,660 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 10,659 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 415 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 144 of #Syngap10 - July 2, 2024

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