7 Jul 2025 09:01
CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174
July 7, 2025 Week 28
ADAMS CAMP
https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/
CENSUS & WHY WE WILL SEE MORE PATIENTS
AAP recommends Whole Exome as a first line test for GDD/ID.
SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is.
https://curesyngap1.org/census/
https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0
First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still?
WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/
Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking.
Martina - First patient from Uruguay.
SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories
IMPORTANT SRF POSTS
Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/
VOLUNTEER SHOUT OUT
Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.
CONFERENCE - DECEMBER 4th & 5th
Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta
FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF
Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!
WEBINAR
#108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars
PRESS RELEASE
WHY OUR RESEARCH MATTERS
Bowie Lab Talk on Glutamatergic Neurons. We learn about Int
