SynGAP10 weekly 10 minute updates on SYNGAP1

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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/

Episodes

48 minutes ago

Global CTR Survey, Two New PRs, Sprint4Syngap Hype & Community Voices - #S10e167

48 minutes ago

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/tx5CUWXiQMDcJhHA8

Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal

PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/

PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/

#Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss

Getting to know our community:

- Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories

- Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/

- Sibling Story with Kallen https://cureSYNGAP1.org/Sibling

- DW of SRF AUS https://www.facebook.com/reel/1345989426605772

- Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25

- Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24

PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf

This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

Thank you for the 15 glowing reviews of SRF on Great Nonprofits!

https://www.cureSYNGAP1.org/GNP

VOLUNTEER

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

SOCIAL MATTERS

- 3,971 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1,311 YouTube. https://www.youtube.com/@CureSYNGAP1

- 11,427 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://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 167 of #Syngap10

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

Tuesday Mar 18, 2025

SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166

Tuesday Mar 18, 2025

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 caregivers are tired of trying to explain to people how this disease hits you.
SRD is slow moving, but suddenly changing and completely enervating.

Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age:

Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros
Medication changes can cause issues such at rage
Long-term side effects, e.g., bone health issues, from chronic medication use
Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.)
Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait.

Behavioral & ID: Our kids have enough physical ability to make behavior very challenging:

Pain and behavior compounded by being non-verbal as they grow
Violence against family—bites and scratches
Violence against self, just sheer frustration
Elopement & no sense of danger as a constant stress/burden
ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill.

Family: Toll on caregivers & family is a heavy cost that is rarely counted:

Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family.
Exhaustion from the diagnostic journey, assessments, and caregiving.
Marriages fall apart under the pressure.
Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children.
Siblings are the last to be noticed but first affected.

Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions.

Parents will travel:

We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise.
Example: the day I wrote this presentation I saw these 4 Facebook posts:

Episode 166 of #Syngap10

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

Tuesday Mar 11, 2025

Save Medicaid: A Critical Moment for Our Loved Ones

Tuesday Mar 11, 2025

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 state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference.

To reach out to your Congressional Member consider these two resources:

- Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate

- ARC of US: https://p2a.co/lRPDZ5C

What Medicaid means to your family: https://action.thearc.org/3jLx90b

Tuesday Mar 11, 2025

Tell me your UnMet Need. CHCO ProMMiS! Gut Paper with Citizen Health. Rx Repurposing - #S10e164

Tuesday Mar 11, 2025

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 11 YTD

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

Willsey Lab on Gut Motility, congratulations to Kate McCluskey

https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf

Citizen Health Data in there!

https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3v
Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Family Conf Video on Drug Repurposing

https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.

Thank you Lindsay.

Unravel BioSciences Discussion/Podcast

Short: https://www.youtube.com/watch?v=xcB8pv2lKRI

Long: https://www.youtube.com/watch?v=CYb0ghaRKm8

LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

April 24-25th	Nashville, TN
June 14-15th	Westminster, CO
June 18-21th	St. Louis, MO
June 27-28th	Phoenix, AZ
July 10-12th	Boston, MA
July 18-19th	Denver, CO
July 19-20th	Westminster, CO
July 19-20th	Windsor Locks, CT
Sept/Oct TBD	Philadelphia, PA
Dec 4-5th	Atlanta, GA

Share glowing reviews of SRF on Great Non-Profits!

https://www.cureSYNGAP1.org/GNP

ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled. Time to go for ICD-11s.

https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html

DoD Funding

https://umdf.org/cdmrp_cuts_action/

#MEDICAIDCANTWAIT

https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/

Episode 164 of #Syngap10

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

Friday Feb 28, 2025

RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163

Friday Feb 28, 2025

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/fda-layoffs-trump-doge-hhs-cuts-impact/740499/
Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/
https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612
President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/
DOGE head who also doesn’t care

https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/

Hope:

Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Community https://curesyngap1.org/team/
Global: https://syngapglobal.net/
ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes

Disability is Political

Take it or Advocate?

Taking it does not work.

Advocate:

SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/
ELF https://everylifefoundation.org/
Research America
https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/
Alliance for a Stronger FDA
https://www.strengthenfda.org/
Modern Medicaid Alliance
https://modernmedicaid.org/about-the-alliance/

Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391

Responsibility to those who cannot or will not be here. 10% of Americans. 10k diseases, all chronic. Childhood. Do not have FDA approved treatments, no cures. Staggering Financial Costs aka Toxicities. Efforts to date have allowed for interventions that may still matter. We have invested so much.

Episode 163 of #Syngap10

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

Tuesday Feb 25, 2025

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162

Tuesday Feb 25, 2025

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162

Tuesday, February 25, 2025 - Week 9

ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week

https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS

SPRINT4SYNGAP - April 26, 2025

Webinar: cureSYNGAP1.org/S4S25

Guide: cureSYNGAP1.org/S4SGuide

LEVERAGE ON OUR GRANTS

#Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

STUDY OF THE WEEK - Email syngap-study@beacon.bio

Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/

Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing

IMPACT REPORT

NL43 cureSYNGAP1.org/NL43

ONLINE DID YOU KNOW

We have a calendar now! https://curesyngap1.org/calendar/

Brochure is updated: cureSYNGAP1.org/Brochure

YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2

COMPANY OF THE WEEK - Stoke & Biogen!

STK ($0.45Bn) partners with BIIB ($20.5Bn)

https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and

#SpecialNeedsTRAVEL

e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories

Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V

RESEARCH UPDATE

There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 10 (Coller included) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290

VOLUNTEER SPOTLIGHT

Toby and John Brimsek are tireless. Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/

VOLUNTEER

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

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full

SOCIAL MATTERS

- 3,937 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 1.28k YouTube. https://www.youtube.com/@CureSYNGAP1

- 11.5k Twitter https://twitter.com/cureSYNGAP1

- 46.6k 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://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 162 of #Syngap10

#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Wednesday Feb 12, 2025

Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161

Wednesday Feb 12, 2025

Tuesday, February 11, 2025 - Week 7

IMPACT REPORT IS OUT!

Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/

Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/

STUDIES OF THE WEEK - BEACON DREEM

https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

COLORADO CHILDREN'S HOSPITAL - April & May

https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/

STANFORD ARTICLE ON SYNGAP1 SEIZURES

https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/

Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175

LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke

Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul

RESEARCH UPDATE

There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 8 (but reall 9 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability
https://link.springer.com/article/10.1007/s10803-023-06162-9

ADVOCACY SHOUT OUT

Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/

Learn from the greats:

April 8 & 9 at St. Jude online

https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111

IN THE NEWS - Terry P on Kelly Clarkson Show

https://www.youtube.com/watch?v=yLcm0KcgZyc

FUNDRAISING MATTERS

Aaron: https://giving.classy.org/campaign/661441/donate

You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST

CONFERENCE
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25

VOLUNTEER