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

Sunday May 18, 2025. Week 21Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ CAMP4Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disordersDr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVoPresentation at ASGCT: https://investors.camp4tx.com/news-events/presentationsGETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl To get these Therapies to kids the NHS data is key, ProMMisCHOP - Email them [email protected] (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 Healthhttps://cureSYNGAP1.org/Citizen is at 267, why not 300?Hopkins article featuring SRF - Competition is good for the patientFB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cplLIhttps://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsBASGCTMouse poster for Q504X from the JAX, Dr. Matt SimonConf Video https://www.youtube.com/watch?v=loYXkkTSUIY Presentation on AAV for SYNGAP1 at Allen by Dr. Megan QuinlanWhat 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=dOeiPoa3gvMEric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivoMore incredible newshttps://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challengeREPURPOSINGMike’s post in private SRF Group: https://www.facebook.com/groups/syngap#Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ Butyrate Updatehttps://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathyTrial 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 YTDhttps://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expandedSleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3DihubSRF FundraisersMDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/Well done to Tavilla and Jones!  We are over $221kTavilla clears $160k for Sprint.https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255Porter 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/e678677SRF PROFILESVicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41PVicky’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/WarriorPREREGISTER FOR THE CURE SYNGAP1 CONFERENCEhttps://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/