CURE SYNGAP1 PODCAST aka SYNGAP10

Saturday, October 25, 2025. Week 43.   Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/   PUBMED at 47, and low. Clinical research! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date   - CHOP EEG ProMMiS ​​ https://www.neurology...

Friday, October 3, 2025. Week 40.   #SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/   Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/   Sign up for Citizen Health https://www.citizen.health/partners/srf   CC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_...

Wednesday, October 1st, 2025. Week 40.   SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht.  Our code is F78.A1 Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg Read the case study:...

Friday, September 26, 2025. Week 39.   In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.   DSC has announced! DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD) Key post https://www.linkedin.com/posts/curesyngap1_86-million-ni...

Friday, September 26, 2025. Week 39.   In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & Wedbush   William Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be a...

Wednesday, September 10, 2025. Week 37. CAMP4 Press Release:  https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR   Let me tell you a story: EW Story, concern over viability of C4. Easy to follow financials, Mrkt Cap and Net assets of ~$40M.  Net income/EBITDA of -$12.6M in Q2.   Running Phase I / II trials and ramping up for Phase III, not cheap.  They nee...

Sunday, September 7, 2025. Week 37. Why does CURE SYNGAP1 aka SRF matter?  Do PAGS make a difference? Heck yes. Empower Families - Support.  Educate.  Activate.  Coordinate. Use Money Catalytically - Tax advantage.  Pool.  Manage.  Make Catalytic.  Focus.  Manage. Partner with Science & Medicine - Push forward.  Connect efforts.  Focus on Tx.  Work in Clinic. Leverage Ecosystem.  Industry.  PA...

Friday, August 29th, 2025. Week 35. 5th Annual Gala was a great success! cureSYNGAP1.org/Gala5 Sad to miss it?  Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA!  Hi Dr...

Friday, August 22nd, 2025. Week 34. The 5th Annual Gala is happening now!  https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ cureSYNGAP1.org/Gala5   Sad to miss it?  Join us in Boston or South Carolina. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org...

Tony (11, M) Story.  Now we sleep with the alarm on every night.   Elopement:  involves leaving a safe or supervised area without permission. poses a risk to the individual's safety. can occur in various settings. is a common behavior in individuals with ASD. Virginie (10, M) Stories and Service Dog.   Single Mom (9, M) heading to the judge and calls me asking for papers.  Here you go…   Let’s not...

Friday, August 8th, 2025. Week 32. CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing. Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.   DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/   Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ My co...

Wed July 30, 2025 Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.   See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/   Action: If your kid has motor seizures, fill out the screener and...

July 16, 2025. Week 29. What is a natural history study (NHS)?  And why do we care? We care because we haven’t done this before, heal those born with disease. Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over tim...

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. https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_   SYNGAP1 Census 2Q25 +55; new total 1,636, but we need...

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD     Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183...

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: h...

Email: Ilakkiah. Chandran@uhn.ca about this study!   Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.   All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults!  It’s worse.  There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more importa...

Friday, April 25, 2025 - DNA Day Good luck at Sprint tomorrow.  $194k at this moment.   WODC Readout Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E) RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar . (Other  Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2 )   Read...

Tuesday, April 15, 2025 – Week 16   CURRENT NEWS #Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas!    Board Announcement: https://www.eurekalert.org/news-releases/1080490   LEARNING ABOUT SYNGAP1 ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for t...

Wednesday, April 9, 2025 – Week 15   Condolences to the Brimsek family and thank you John & Tobi for all your support.  We just shared an interview with our board member and John’s son-in-law, Eric Moulton https:// cureSYNGAP1.org/Stories     Trip Report, two crazy days.  Many takeaways.  Trials may be coming soon.  If there is a trail, sign up.  Every time. khuba@jcu.edu     Do the Frazier St...

Wednesday, March 26, 2025 – Week 13 #S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA , with almost 600 views this is the best S10 episode, ever.  Don’t miss it, or the comments.  Feel free to add to them!   One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia.  Not too late to take part: https://forms.gle/...

Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface  Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience.  When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories.   This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 care...

Please give my video a watch and SAVE MEDICAID!   Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing.   For over 30 years, I’ve been advocating at the s...

Tuesday, March 11, 2025 - Week 11   CHCO Press Release https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org   SYNGAP1 ProMMiS #SynGAProMMiS https://curesyngap1.org/resources/studies/syngap1-prommis/ Need your Voice on Unmet Need Please contact me with stories and permission to share. Mike@    PubMed is at 1...

Friday, February 28, 2025 - Week 9   Hope vs. Despair?   Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744 NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share   FDA Staffing Cuts https://www.biopharmadive.com/news/...