CURE SYNGAP1 PODCAST aka SYNGAP10

#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 SYNGAP1 families https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-raredisease-activity-7378443770201047040-ORGj

 

$CAMP starts GLP Tox https://www.linkedin.com/posts/camp4-therapeutics_syngap1-activity-7379142427149881344-cBFE

CF initiates coverage at Overweight https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-initiates-camp4-therapeutics-stock-with-overweight-rating-93CH-4268395

$CAMP $2.98 at close on 10/2 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

 

CIRM funds SYNGAP DISC0-17998 grant proposal from Iris Medicine team, in collaboration with Dr. Gene Yeo’s team (UCSD) https://www.cirm.ca.gov/about-cirm/newsroom/press-releases/cirm-approves-73-million-in-awards-for-discovery-research/

 

Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A

 

CURE SYNGAP1 Conference 2025 Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

 

USE YOUR ICD-10 F78.A1

e185 https://www.youtube.com/watch?v=dale0NbxDpU

 

SOCIALS

4,381 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

1,450 YouTube.  https://www.youtube.com/@CureSYNGAP1

11k Twitter https://twitter.com/cureSYNGAP1

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

Episode 186 of #Syngap10 #CureSYNGAP1

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

 

Why does it matter and where are we now?  It helps us find patients and it helps doctors and companies find YOU.  We  aren’t where we should be.

 

Dr. Lal’s sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0

 

Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf

 

TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated

genes, and code implementation dates.

Syndrome ICD-10 Code Gene Effective Date21

Rett syndrome F84.2 MECP2 10/01/2015

Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020

Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020

Dravet syndrome G40.83 SCN1A 10/01/2020

SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021
MED13L syndrome Q87.85 MED13L 10/01/2023

Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023

SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024

KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024

Kleefstra syndrome Q87.86 EHMT1 10/01/2024

 

5 Conclusion

Syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.

 

Who else got them?  New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html

#FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code

#Kabuki Q87.0

#USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3 

#CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC 

#SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/

#CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5 

#SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ

#STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code 

#DLG4 QA0.0149

#Usher H35.5

 

CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/

 

CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing 

 

Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/

 

REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codes

 

EVENTS!

Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451

Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355

 

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

 

SOCIAL MATTERS

- 4,376 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,450 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,285 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources   

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 185 of #Syngap10 #CureSynGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 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/blog/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital/

 

Pubmed is at 44! (+2 v ‘23, -10 v ‘24, 2nd place) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

Cell Paper on AAV in Mice: https://www.linkedin.com/posts/boaz-levi-07387741_aav-delivery-of-full-length-syngap1-rescues-activity-7376306391537532928-iT9u 

 

Last week was a CB Conf in Nashville, attended by KAH and VA, thank you to both.  KAH in Staff yesterday, the hardest thing is not seeing Joey.  ☹️  Thanks to MS for going too.

MS https://www.linkedin.com/posts/melissasmith1_raredisease-patientadvocacy-syngap1-activity-7374408667091333120-Udp0/

KAH https://www.linkedin.com/posts/kathryn-syngap-research-fund_the-combinedbrain-conference-in-nashville-activity-7374639535021928448-gWB4 

 

Two big upcoming events:

Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A 

 

CURE SYNGAP1 Conference 2025 in Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

 

SOCIAL MATTERS

- 4,371 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,440 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,292 Twitter https://twitter.com/cureSYNGAP1 

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

 

COMPANIES WITH NAMED ASSETS FOR SYNGAP1

$CAMP $3.00 at close on 9/23

 

Episode 184 of #Syngap10 #CureSYNGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 for Early Intervention. Citing precedents of other intrathecally delivered antisense oligonucleotide programs for CNS indications, where the FDA oftentimes required sponsors to begin at a dose level well below the efficacious dose, CAMP plans to begin patient dosing outside the U.S. for the potential to go directly to doses that are expected to show efficacy. The selection of patient age range will depend on regulatory discussions, and management highlighted the impact of the disease on neurodevelopment, so early intervention could allow patients to have a better opportunity to achieve as normal as possible development.

CAMP Will Have Access to Natural History Data being Collected by SRF and CHOP. According to management, a natural history study is being conducted by SynGAP Research Fund (SRF), which also participated in the private placement, in collaboration with Children's Hospital of Philadelphia (CHOP), and CAMP will have access to data as well as patients for future clinical study enrollment.

Donate now: https://curesyngap1.org/donate/

Beacon of Hope was a great success, raised over $100k.  We need to do this every year.  Thanks to Navarros for getting this launched, also to SJ, Emily Barnes, Peter Halliburton, & Kathryn Helde who helped make this event incredible.

Emmy’s video (top of) https://curesyngap1.org/resources/movies/
Blog: https://cureSYNGAP1.org/Beacon25 (will be live Friday night 9/26)

Pairs well with Gala Blog: https://curesyngap1.org/Gala25 

Research is non-stop:

 - CRID, get one. https://curesyngap1.org/blog/every-syngap1-related-disorders-patient-needs-a-crid/

 - ProMMiS, incredible coordination meeting today.  Sign up. https://curesyngap1.org/resources/studies/syngap1-ProMMiS/

 - Sign up for Citizen Health too!  AI Advocate is live for us an awesome. https://www.citizen.health/partners/srf

 

Episode 183 of #Syngap10 #CureSYNGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 the SYNGAP1 Ecosystem is excited to have a first mover.
• SRF was thrilled to be invited, not just because we believe in C4, but because we wanted to send a meaningful signal to other investors that we are working closely with C4 and are eager to support their success.  I believe that our investment, while modest, sent that signal and helped this raise become oversubscribed.
• The board worked hard on this one.

Now for hard questions:

• Are we conflicted? No.  We will transparently share info about all trials for products with good data.  ( See #S10e172 for ASGCT Data https://youtu.be/9xO1TcO1Eus ) 
• Will other companies be upset?  Unlikely.  Stoke and Praxis are the only companies publicly working on SYNGAP1 that are close to this point and they are not worried about financial viability, but if they do want to do a raise for their SYNGAP1 program, they should certainly call us.
• What will other companies think? Indeed we are de-risking the disease by showing that our kids are modifiable with ASOs which are the majority of the therapies in scope.  This is a huge favor to others looking at this space.  
• Isn’t this taking a risk with our funds?  Depends.  But if it is, it’s a risk worth taking.  Remember we are the smallest investor, we only committed up to $1M, so other professional biotech investors put in $99M.
• What was the process?  C4 came to us, we decided it was worth talking to the board who had multiple discussions but we said yes in less than a week and that was last week.

When is the trial? 2H26 Less than a year from now.  With this financing, I am sure of it.

As I write this, the $CAMP stock closed up $0.80 or +40%.  Which is solid.  The market is starting to agree with the wise investors and SRF! 

Yes we need a cure. 

https://www.linkedin.com/posts/curesyngap1_savekramerdavis-activity-7371607032807763968-PVfG

 

See you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

 

SOCIAL MATTERS

- 4,311 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,430 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,286 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

Episode 182 of #Syngap10 #CureSYNGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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.

1. Empower Families - Support.  Educate.  Activate.  Coordinate.
2. Use Money Catalytically - Tax advantage.  Pool.  Manage.  Make Catalytic.  Focus.  Manage.
3. Partner with Science & Medicine - Push forward.  Connect efforts.  Focus on Tx.  Work in Clinic.
4. Leverage Ecosystem.  Industry.  PAGs.  Superpags (CB, GG, ELF).
5. 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/volunteer-with-srf/ 

 

Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27Gc

 

Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

 

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/

 

Conference is in 88 Days

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

1. Register (97 done!)

Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25

 

2. Get a Room (Deadline 11/3 – Will sell out)

Need a hotel room? Use our block here: cureSYNGAP1.org/GATech

 

3. Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!)

Register here: cureSYNGAP1.org/Din25

 

4. SHARE BLOOD TO THE SRF BIOBANK
   🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow

 

#Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)
https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782
https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl 

 

3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia

https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/

Register at cureSYNGAP1.org/Congreso3

 

SOCIAL MATTERS

- 4,306 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,430 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,286 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

Join Citizen Health!  Last count we were at 275!

https://www.citizen.health/partners/srf

 

Pubmed is at 42!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

 

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 181 of #Syngap10 #CureSYNGAP1

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

#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

#Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025).

The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual Congress

 

Bexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials.

 

Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively.

 

During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial.

 

This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/

 

See and comment on Vicky’s recent post on her 7 year SYNGAP1-iversary:
https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM 

 

Join Citizen Health, we are at 275!  We should double that.

https://www.citizen.health/partners/srf

 

DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.  

 

CFC Starts on 9/1

https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/

 

🔥🌡️ Syngapians don’t like the heat.

 

Conference is in 96 Days

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

 

Pubmed is at 39!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

SHARE BLOOD TO THE SRF BIOBANK AT CB!

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ 

 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/ 

 

SOCIAL MATTERS

- 4,299 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,298 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

 

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 180 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.”

 

Just over 20 FDA approved Oligos and siRNAs today.  We are still so early.

https://www.advancingrna.com/doc/moving-beyond-solid-phase-synthesis-the-momentum-of-oligonucleotide-manufacturing-0001

 

Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable.

https://www.grannpharma.com/press-releases

The SYNGAP1 Village: How Extended Family Can Provide Vital Support
https://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/

 

Here’s a fun topic to discuss with your family, brain donation.  https://www.autismbrainnet.org/

55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613

 

SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts.

8/20/25 Letter can be viewed in SRF Public-facing drive 

https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_link

Philadelphia Inquirer picked up the story 8/20/25 

https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html 

 

More on #Elopement: Alarms, Roofs, Resonated.  Keep talking to doctors about this.  Post is up to 139 Votes, percentages little changed,  join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/
#S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY 

 

Conference is in 103 Days

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

 

Pubmed is at 38!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

SHARE BLOOD TO THE SRF BIOBANK AT CB!

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ 

 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/ 

 

SOCIAL MATTERS

- 4,285 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,294 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

 

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 179 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 this very challenging behavior.

 

FB Survey.  4 hours.  100+ votes, 100 comments.   https://www.facebook.com/groups/syngap/posts/1734514154096968/

76% of respondents eloped (35% F, 41% M)

24% didn’t (17% F, 7% M)

 

• 11 F, no elopement at home - but sometimes tries to elope while at school.
• C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked
• C elopes and age 16 years old
• H 9 girl constantly running away
• B-7.5 years old
• Girl - 3
• Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.)
• Boys age 7. He has for awhile
• Boy, age 8.5. Just started eloping more so recently, in the last year.
• 11, girl
• Boy age 15
• 13 year old girl
• Girl-3
• Ty 10 elopes since he can walk. It’s our biggest problem.
• Boy age 8 but has been doing it for a while
• Age 7, girl.
• Boy - 14y/o
• Boy age 9… he’s a track star!
• Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he’s older and higher.
• Boy 10. Always has wandered and will still now run off knowing he’s not suppose to
• Any chance he gets 13
• My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in case
• Boy , 25 the risk is high because he looks typical
• 25 yo female, requiring alarms, cameras,and specialized door locks.  In a state that says that these measures are unlawful restraint and invasion of privacy

 

Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1.  See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112

 

McKee, 2025.  Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts.  See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration.

https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract

 

Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview.  See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft.  https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346

 

Impulsivity quotes:

 

Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're

like‘oh my god, how are you going to get out of that?’”

 

Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he

just walked off the edge and just fell into the water and was like… he would have just drowned.”

 

Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a

moment, I mean, we always had somebody with her, but it could be a moment's time and it's like

where'd you go, you thought she was right there.”

 

FUNDRAISING

3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 

Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

 

Also, Conference is in 107 Days

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

 

STUDIES - MATTER

https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing 

 

Pubmed is at 37 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ 

 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/ 

 

SOCIAL MATTERS

- 4,283 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,303 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

 

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 178 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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/ 

Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/

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 

 

CAMP4 in IPM

https://www.linkedin.com/posts/camp4-therapeutics_in-conversation-with-josh-mandel-brehm-ceo-activity-7359584335202541570-X-MX

 

FUNDRAISING

3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 

Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

 

Also, Conference is in 117 Days

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

 

STUDIES - MATTER

https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing 

 

Pubmed is at 32 (One a week!)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc

 

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ 

 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/ 

 

SOCIAL MATTERS

- 4,265 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,410 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,304 Twitter https://twitter.com/cureSYNGAP1 

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

 

Resources

https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

 

Episode 177 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS