CAMP4, JAX and Allen present about ASCGT, JHU Article, CRISPR, Repurposing, 4PB & SRF News #S10e172

Sunday May 18, 2025. Week 21

Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ 

CAMP4

Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders

Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo

Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations

GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl 

To get these Therapies to kids the NHS data is key, ProMMis

CHOP - Email them ENDD@chop.edu

Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/

Citizen Health

https://cureSYNGAP1.org/Citizen is at 267, why not 300?

Hopkins article featuring SRF - Competition is good for the patient

FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl

LI

https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB

ASGCT

• Mouse poster for Q504X from the JAX, Dr. Matt Simon
  • Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY 
• Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan

What about this guy?

Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share 

PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM

Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo

More incredible news

https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge

REPURPOSING

Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap

#Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ 

Butyrate Update

https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy

Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper.

SunButyrate https://a.co/d/7kiHXS8 

PUBMED 

328 total with 20 YTD

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded

Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub

SRF Fundraisers

MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/

Well done to Tavilla and Jones!  We are over $221k

Tavilla clears $160k for Sprint.

https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255

Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated.  Amazing and thank you to Krispy Kreme. 

https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677

SRF PROFILES

Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P

Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/

Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior

PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE

https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/