CURE SYNGAP1 PODCAST aka SYNGAP10
SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.
#NightOfImpact a huge success & we are lucky to have Dr. Helen R Willsey. #S10e209
Wednesday, June 10, 2026 - Week 24
#NightOfImpact was 15 Days ago!
Photos: https://jeaniehorton.pixieset.com/curesyngap1nightofimpact2026/
Impact: $800k+, of which $300 was our match.
Industry: Multiple
Academics & Clinicians: Stanford, Berkeley & UCSF. Cross-pollination is always good.
Speakers: Ash, John, Kathryn, Helen Willsey & Me. Only got a video of John, which was a mistake. If you took one, please share. Here is John: https://www.linkedin.com/posts/graglia_still-reflecting-on-our-inaugural-cure-syngap1-ugcPost-7467439971294048256-cUf9/
Dr. Willsey Rocks.
Willsey Press Release https://www.eurekalert.org/news-releases/1130924 (both we...
Tony update. #ThisIsOursToLose. More great results from $CAMP4. #NightOfImpact in 9 days! #S10e208
Tuesday, May 19, 2026 - Week 21
Personal Update via Syngap Stories:
Page: cureSYNGAP1.org/stories41
Post: https://www.linkedin.com/posts/syngap1stories-syngap1-curesyngap1-share-7462125026276777984-OVBr
#ThisIsOursToLose - Three steps to engaging friends with CURE SYNGAP1.
Share CURE SYNGAP1 Video - Burden, Hope & Progress - 1.1k views in 11 days.
cureSYNGAP1.org/Burden https://www.linkedin.com/posts/syngap1-curesyngap1-raredisease-share-7458298251893448706-jfWF
Send IMPACT REPORT - Tool for family, newly diagnosed & Fundraising.
cureSYNGAP1.org/Impact or cureSYNGAP1.org/Impact25
Ask to...
Earnings reports: CAMP4 files. Stoke optimizing. Praxis on track. 2026 Video! #S10e207
Friday, May 8, 2026 - Week 19
CURE SYNGAP1 STRATEGY WORKING
Our strategy has always been to derisk SYNGAP1 so that industry will invest and bring their skill and capital to bear. We leverage donor dollars to maximize impact. Yesterday was a great example:
EARNINGS REPORTS
CAMP4 1Q26 Results: $99M https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-first-quarter-2026-financial-results-and-corporate
We submitted our first regulatory filing for CMP-002 in Australia which positions us to initiate a global first-in-human Phase 1/2 clinical trial in the second half of 2026.
Longitudinal Data Matters! Prioritized list of studies! #Sprint4SynGAP a great success! #S10e206
Wednesday, May 6, 2026 - Week 19
Congrats to GETA, CURE SYNGAP1 Australia & CAMP4 for a great weekend. https://www.linkedin.com/posts/syngap1-epilepsy-ugcPost-7457791427486466048-j8SB
WEBINARS!
CURE-ID Webinar tomorrow! Register now. Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID
Next week, especially NY families, while you are registering, please make sure to go to this one with Dr. Buxbaum from Mt. Sinai. curesyngap1.org/seaver https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-rarediseaseresearch-activity-7457507565527044096-dDEK
Longitudinal Data Matters - Every six months or more...
Comment on Haystack Petition to FDA. New Board of Trustees. #ICD10 F78.A1 #CureID #S10e205
Monday, April 20, 2026 - Week 17
CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity.
PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdf
Petition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdf
Reuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/
Pink Sheet: https://insights.citeline.c...
Global Advocacy. #NL51. Snippets! #SYNGAPcensus = 1,761. UT Arlington & Cook Children’s. #S10e204
Tuesday, April 14, 2026 - Week 16
Census is 1,761
https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761
Trip to Texas for UT Arlington and Cook Children's
Systems innovation with Dr. Lal and Dr. Perry My post: https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share *** Dr. Lal’s post: *** https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZ
ProMMiS patients - 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visits
https://curesyngap1.org/resources/studies/syngap1-prommis
Citize...
DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203
Friday, April 3, 2026 - Week 14
Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians.
https://dsc.rarediseasesnetwork.org/patient-advocacy-groups
More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/
We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations:
Rush University Medical Center (Rush) led by D...
It is time to get ready for clinical trials, this is how. #S10e202
Thursday, March 26, 2026 - Week 13
Thanks for NL50 Ed! cureSYNGAP1.org/NL50, I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen.
SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS
Stay Connected to CURE SYNGAP1. Fill in the Connect Form https://curesyngap1.org/connect Have an annual call with Lauren Subscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube Know your mutation, have your genetic report. Memorize it or get a tattoo. Sign up for our Natural His...We need to raise funds for the critical work of CURE SYNGAP1, join us with #Sprint4SYNGAP #S10e201
Friday, March 6, 2026 - Week 10
WHAT DO WE NEED $ FOR?
I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund.
SPRINT FOR SYNGAP1
Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money.
Get on the map! Text sprint26 to 71777
https://curesyngap1.org/calendar/sprint4syngap-2026/
INAUGURAL SF NIGHT OF IMPACT
Also to raise funds, please...
#RareDiseaseWeek! We are doing much beyond grants… too much. Get the Citizen Health App! #S10e200
Wednesday, February 25, 2026 - Week 9
Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ
NATURAL HISTORY STUDY
Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS
And now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dva
Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant project...
Support Clinical Trial Design for #SYNGAP1 via biobanks, EEGs and Fundraising. #S10e199
Tuesday, February 17, 2026 - Week 8
We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF.
CLINICAL TRIAL DESIGN
We are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-care
Dravet or Angelman? Phase 1/2 is when we try it all. EEGs and NHS help with this effort.
BIOSAMPLES & EEGs!
Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with...
All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198
Thursday, February 5, 2026 - Week 6
Happy #RareDisease & #BlackHistory Month!
#NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/
Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free)
Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS
Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy
<...
Funding Priorities. Biorepository. Genetic Testing. How to move for a clinical trail! #S10e197 Monday, February 2, 2026 - Week 6
All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It's super important. Even if you haven't been there, we need your feedback.
English: https://curesyngap1.org/SurveyProMMiS
Spanish: https://curesyngap1.org/encuestaProMMiS
Our funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK
Pubmed 2026 is at 6!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
Coolest paper on Pubmed… GC rich areas were missed...
Stoke Tx shows us that ASO Clinical Development is accelerating. #S10e196
Friday, January 16, 2026 - Week 3
Stoke Phase 3 Rapid Recruitment - A timeline that is ours to beat!
https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-updates-timelines-completion
If Marcin can make it from Poland, you can make it from where you are!
cureSYNGAP1.org/Marcin
CAMP4 Website is great and features Dani Williams!
https://www.camp4tx.com/
Newsletter is out!
https://cureSYNGAP1.org/NL49
Sara Driscoll Genetic Testing Story - Share it or copy it!
https://cureSYNGAP1.org/Ge...
SYNGAP1 Related Disorder (SRD) Key Talking Points & why we need to use them. #S10e195
Saturday, January 10, 2026 - Week 2
Here are key talking points to reference when talking about SRD. Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing
SOCIAL MATTERS
4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,500 YouTube. https://www.youtube.com/@CureSYNGAP1
11.2k Twitter https://twitter.com/cureSYNGAP1
45k Insta https://www.instagram.com/curesyngap1/
$CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP...
Becky Quick launches CNBC Cures, Finding Your Voice & Key Talking Points for SRD! #S10e194
Friday, January 9, 2026 - Week 2
Big news in SYNGAP-land, Becky Quick and Matt Quayle have a beautiful SynGAPian named Kaylie & they are launching CNBC Cures!
- Wonderful to have more awareness of SYNGAP1, I hope it leads to more diagnoses.
- My two favorite quotes from the episode and podcast: “There is no Mission without Money”-BQ & “She has reset our whole life plan…one day I’m going to be gone and is Kaylie going to be ok?”-MQ
- Here is our page with all the links! https://www.linkedin...
Stockdale Paradox: Not getting out at Xmas, but we will win. #SynGAPCensus = 1,707. #S10e193
Friday, January 2, 2026 - Week 1
#SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/
From the Cantor Report on CAMP4
The Stockdale Paradox. The best way to succinctly describe CAMP4 and the parties driving progress in this field (Cure SYNGAP1, families, researchers) is, for anyone familiar with Jim Collins' book "Good to Great," they have fully embraced the "Stockdale Paradox": To succeed in difficult circumstances you must 1) confront the brutal facts (severity of the disorder, devastating
impact on patients and families, lack of treatment) while 2) maintaining unw...
AES ‘25 was incredible, Fundraising, PRV, Behaviors, Posters/Pubmed & Thank you. #S10e192
Saturday, December 20, 2025 - Five days till Christmas, 11 days left to raise funds to CURE SYNGAP1
AES was exceptional in many ways, here are a few:
Rare & SYNGAP1 were both very visible, posters with our Logo and names of staff were seen! Posters: https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru Our conference was standing room only and had investors! Even got a mention in their research report! https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-reiterates-overweight-rating-on-camp4-therapeutics-stock-93CH-4403281 ProMMiS Launch was a massive win for patients. Collaboration. Praxis and Lundbeck recruited for exciting drugs and CAMP4 ta...New book by #SYNGAP1 mom for and about #GlassChild (Sibling of Special Needs) #S10e191
#CyberMonday, December 1, 2025. Week 49.
Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy.
Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t&
Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158
Amazon: https://a.co/d/imfxmwG
See you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/
SOCIAL MATTERS
4,474 LinkedIn. https://www.linkedin.com/company/curesyngap1/
1,480 YouTube. https://www.youtube.com/@CureSYN...
AAV. Resources on cureSYNGAP1.org. Congrats to Ultragenyx & Novartis. Conf is in 5 days! #S10e190
Happy Thanksgiving… Thursday, November 27, 2025. Week 48.
Continued from #S10e189…
And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/
https://curesyngap1.org/blog/
Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead
https://curesyngap1.org/resources/webinars/ 119 - 112
Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.
https://curesyngap1.o...
#CureSYNGAP1 Conf: 1 week! #GivingTuesday: 5 days. #ProMMiS. Mvmt & Sleep papers. #S10e189
Happy Thanksgiving… Thursday, November 27, 2025. Week 48.
https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin. Check them out, screen for both. See what you can do!
Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet!
MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo
Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX
ProMMiS - Meet committed clinicians, get great care and build the future of...
It’s time to UNLOCK THEIR TOMORROW - let’s raise funds. Also: CAMP4 and our name. #S10e188
Sunday, November 9, 2025. Week 46.
End of year campaign: UNLOCK THEIR TOMORROW, curesyngap1.org/unlock
Why now? UNLOCK It’s giving season. Count our blessings and share what we have. CS1 has moved mountains this year: Staff, ProMMiS, etc. But we are just starting…
Every single family should give and should solicit their friends. Yes, it’s a tough time. Yes, people have other causes. No (most of) your friends don’t have a SynGAPian.
Miss 100% of the shots you don’t take. And remember, donors learn about what they give...
Clinical Research, AI Dx, #NL47, Survey, #Autism Press, 6 Days to Register for #SYNGAP1conf #S10e187
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.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
- COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063
Doing surveys...
#SyngapCenus 1,675 Teacher Handout CC/VNS Citizen Paper $CAMP starts GLP Tox CIRM funds S1 #S10e186
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_syngap1-dee-raredisease-activity-7378823288950575105-YjP3
Rhymes with recent publication from Dr. Perry on Dravet
https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118
Citizen AI Advocate avail. for SYNGAP...
F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185
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: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
W...
DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184
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-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and wil...
DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184
Friday, September 26, 2025. Week 39.
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-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org...
You need a #CRID. SRF $1M to $CAMP noticed in Equity Research! #BeaconOfHope was great. #S10e183
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 an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.”
Wedbush
Ph1/2 Will Likely Begin From Ex-U.S., Aiming fo...
CURE SYNGAP1 joins biotech investors in CAMP4 Tx’s $100M Raise for ASO Program $CAMP #S10e182
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 need more than they had and capital is hard to get in this market. But here is the good part, the data is solid, the team is strong, and th...Why & How Do Patient Advocacy Groups Matter? Party Friday! #SYNGAP1Conf soon! #Elopement #S10e181
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. PAGs. Superpags (CB, GG, ELF). Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.Because you VOLUNTEER
Join us: https://curesyngap1.org/volu...
#IEP: Syngapians don’t like the heat 🌡️ #BeaconOfHope #IEC2025 #CitizenHealth #DSC #CFC #S10e180
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. Knowles!
We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM
#Bex...
GALA is now, #StokedAboutStoke, Go Grann, Our Villages, CHOP/NIH, More on Elopement. #S10e179
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/Scramble
Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!
https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results
12 Aug...
How to talk about #ELOPEMENT in #SYNGAP1 with Schools, Judges & Police Officers. #S10e178 Monday, August 18th, 2025. Week 34.
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 note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss...
Embracing Complexity, Another Pipeline Neuren Pharma, It’s Party Time #S10e177
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/
My comments at the 2024 Conference:
curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/
PRESS
Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX
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Why join the Relutrigine study from Praxis for DEEs with motor seizures? - #S10e176
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 join this amazing study.
Link here: https://www.resiliencestudies.com/emerald
A motor seizure is a seizure where you can see something moving – inclu...
Global Overview of SYNGAP1 Natural History Studies - Support the SYNGAP1 #ProMMiS – #S10e175
July 16, 2025. Week 29.
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 time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.
NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PR...
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.
https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_
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
TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25
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-7336183874890231809-Beua
CURE SYNGAP1 CONNECT
https://curesyngap1.org/curesyngap1connect/
CAMP4 Update - Hear it from them, in our US or EU Webinar.
US https://curesyngap1.org/resources/webinars/1...
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...
ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete Andrade Study ASAP. #S10e171
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 important. BTW, soon we will have treated and untreated!
Dr. Andrade and her team are the best in the world. Dravet/SCN1A is “the...
