CURE SYNGAP1 PODCAST aka SYNGAP10

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 these samples is invaluable.  Let us know if you are going, email our CSO@curesyngap1.org.

 

(Stay tuned for another exciting device study…)

 

NATURAL HISTORY STUDY

Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS

NHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiS

Latest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7t

 

FUNDRAISING - SPRINT4SYNGAP

Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:
set up your team - cureSYNGAP1.org/Sprint26
resource guide for your event - cureSYNGAP1.org/S4SGuide
webinar #99 to help get you started - cureSYNGAP1.org/S4S25

 

Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26

Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26

 

PUBMED

Pubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)

Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIH

 

ETC

- More warriors cureSYNGAP1.org/Warrior

- Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro

- Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

 

SOCIAL MATTERS

4,686 LinkedIn.  https://www.linkedin.com/company/curesyngap1

1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1

 

$CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast

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

 

Potential for being a control arm in the future.

 

Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/

 

Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1.  Today, a 4 month old is going!

CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4

CHCO: 37 new, V2- 7

Stanford: 8 new, V2- 2

Total: 164 (double counting one family who goes to multiple sites)

 

Survey

English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS

 

94 Responses to survey, so far:

Why not? Did not receive an invitation, Too far to travel, Too expensive

Barriers: Logistics, Cost, Time off, Behaviors, Insurance

 

ETC.

Pubmed 2026 is at 6!  But will soon be 7 with the McKee paper!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

 

Biorepository needs more samples.  Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood.  The data and research we do with these samples is invaluable.

 

May 28, San Francisco, CA: cureSYNGAP1.org/SF26

 

SOCIAL MATTERS

4,668 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1

11.2k Twitter https://twitter.com/cureSYNGAP1

45k Insta https://www.instagram.com/curesyngap1/

 

$CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast

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, so not only do we need to push for testing, but also REtesting.

https://pubmed.ncbi.nlm.nih.gov/41577710/

 

Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4

Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBP

 

Don’t move to or from US/EU/LatAm etc.  This question keeps coming.  Please stay where you are and advocate like crazy.  Set up CURE SYNGAP1 [Your location]

 

Biorepository needs more samples.  Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood.  The data and research we do with these samples is invaluable.

 

Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/ 

 

May 28, San Francisco, CA: cureSYNGAP1.org/SF26 

 

SOCIAL MATTERS

4,661 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1   

11.2k Twitter https://twitter.com/cureSYNGAP1 

45k Insta https://www.instagram.com/curesyngap1/ 

 

$CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast

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/GenTest

 

Pubmed 2026 is at 3!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

 

SOCIAL MATTERS
4,604 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
1,510 YouTube.  https://www.youtube.com/@CureSYNGAP1
11.2k Twitter https://twitter.com/cureSYNGAP1
45k Insta https://www.instagram.com/curesyngap1/

 

$CAMP stock is at $5.78 on 15 Jan. ‘26
https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.
https://curesyngap1.org/podcasts/syngap10/

Episode 196 of #Syngap10 #CureSYNGAP1 #Podcast

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:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast

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.com/posts/curesyngap1_syngap1-curesyngap1-cnbccures-activity-7415094066675216387-32wF
curesyngap1.org/kaylie

 

It's important for us all to remember that it can take time to find our voice. And then use it.

 

Speaking of using our voice, what can you say? We worked yesterday on Key Talking points which will live here and I will talk about them in the next episode.  https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing

 

First paper of 2026, Challenges of Caregiving in SYNGAP1, STXBP1, and TSC.

https://pubmed.ncbi.nlm.nih.gov/41405416/

 

PUBMED is at 1 for the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date

 

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:NASDAQ

 

Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

Episode 194 of #Syngap10 #CureSYNGAP1 #Podcast

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 unwavering faith that you can and will prevail in the end. It gives us conviction that there WILL be a therapy approved for SYNGAP sooner than later and CAMP is most likely to deliver it.

 

Read more on Jim Collins site:

https://www.jimcollins.com/concepts/Stockdale-Concept.html

 

This is exactly what SYNGAP1 Argentina achieved at our conference.  Acting with certainty that they can and will prevail.

 

Check out their exceptional flyer: https://drive.google.com/file/d/1O_DldABKTkB9ZLIiUBqXGBMrtlzie-7i/view?usp=share_link 

 

PUBMED is at 59 for the year, that is +4 over our best year, last year.  177 since 2022, almost half of our SYNGAP1 Knowledge (366) has been created in the past 4 years!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date 

 

#20Posters Speaking of publications, I talked about 16 posters at AES this year and shared on LI, but I was wrong in the responses I realized we are up to 20! https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru 

 

Mutation Tattoo Story

https://www.linkedin.com/posts/shriya-bhat-0b845b203_at-a-patient-advocacy-meeting-in-nashville-activity-7409304451821277184-TO0t 

 

SOCIAL MATTERS

4,529 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 $6.00 on 2 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 193 of #Syngap10 #CureSYNGAP1 #Podcast

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:

1. 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
2. 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
3. ProMMiS Launch was a massive win for patients.  Collaboration.
4. Praxis and Lundbeck recruited for exciting drugs and CAMP4 talked about their ASO and recruiting next year.
5. Our community's presence was felt well into AES.

Aaron's post on growth! https://www.facebook.com/aaron.j.harding.5/posts/pfbid0231DtMVUtkZa4eXLv8C8qbf4xEN95aRP1xJ8sGNNvun7aDuUyZVatMWUjjigdXfg1l 

 

Pre-register now for Denver: cureSYNGAP1.org/Pre26

 

Fundraising. We are YTD $1.68M which is below $1.86M in ’23 and $1.97M in ’24.  We need to really double down on fundraising for the next two weeks and into next year.  Support our campaign at curesyngap1.org/unlock

 

ACTION ALERT 🚨Call Bernie and urge him to help children at NO COST to the USG by supporting the PRV. (202) 224-5141

https://www.linkedin.com/posts/christine-waggoner-71b1555_mibagents-makeitbetter-osteosarcoma-activity-7408186315592085504-A6AY 

 

PUBMED is at 58 for the year, that is +4 over our best year, last year.  187 since 2022, more than half of our SYNGAP1 Knowledge (365) has been created in the past 4 years!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date 

 

SOCIAL MATTERS

4,519 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

1,490 YouTube.  https://www.youtube.com/@CureSYNGAP1   

11.2k Twitter https://twitter.com/cureSYNGAP1 

45k Insta https://www.instagram.com/curesyngap1/ 

 

$CAMP stock is at $6.38 on 19 Dec. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Like and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/

Episode 192 of #Syngap10 #CureSYNGAP1 #Podcast

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/@CureSYNGAP1   

11.2k Twitter https://twitter.com/cureSYNGAP1 

45k Insta https://www.instagram.com/curesyngap1/ 

 

$CAMP stock is at $3.80 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

Episode 191 of #Syngap10 #CureSYNGAP1

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.org/podcasts/syngap1-stories/ 

A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. https://www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-7387203351907708928-liNL 

 

CLINICAL TRIAL & GENETIC MEDICINE CORNER

Example of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. https://www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-7389647402690957312-Bihi

Congrats to Novartis on approval of the first Gene Therapy to Cure SMA!

https://www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840-Ocd_ Remember Spinraza was approved in December 2019.

 

TODOS

1. Sign up for Citizen Health: https://www.citizen.health/partners/srf
2. USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
3. Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

 

SOCIAL MATTERS

4,468 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

1,480 YouTube.  https://www.youtube.com/@CureSYNGAP1   

11.2k Twitter https://twitter.com/cureSYNGAP1 

45k Insta https://www.instagram.com/curesyngap1/ 

 

$CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

Episode 190 of #Syngap10 #CureSYNGAP1