Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146
📝Full show notes: https://syngap.fund/n146
Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110
Newsletter #39 – syngap.fund/NL39
https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566
Cafe Syngap16
https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/
Zempleni Grant
Accelerating Clinical Excellence – PROJECT ACE – Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) – CHOC
Will not collect for biobank!
Top 5 from Abbott webinar:
- Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest.
- This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research.
- Model successful with other rares, ie CDKL5 and STXBP1.
- Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned.
- SRF board approved travel reimbursement.
Dinner on Saturday, talk to Lauren
To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected].
FUNDRAISERS!
Scramble for Syngap – 70 days! – October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/
SynGAP Research Fund Gala – 83 days! – October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/
Missense Account of the Fund $21,534
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
Emmy $5,799
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
CALENDAR MANAGEMENT
Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live!
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
CB Blood Donation accelerates Science! These samples are being used today!
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)
https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024
Hi Zoe! Do you have LGS?
Harmony Biosciences bought Epigenyx
This write is a bit incomplete as it just says 5-HT2, which is a just receptor family:
5-HT2A
5-HT2B – this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor
5-HT2C – bexicasarin selectively activates this.
SOCIAL MATTERS – AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
– 1,060 YouTube. https://www.youtube.com/@CureSYNGAP1
– 3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/
– 11,016 Twitter https://twitter.com/cureSYNGAP1
– 48k Insta https://www.instagram.com/curesyngap1/
– 417 TikTok https://www.tiktok.com/@curesyngap1
Here is a way to use it #SyngapSeizure
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
Episode 146 of #Syngap10 – July 27, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
