SynGAP10 weekly 10 minute updates on SYNGAP1

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 one”

 

Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

https://pubmed.ncbi.nlm.nih.gov/33677403/

https://pubmed.ncbi.nlm.nih.gov/28186331/

https://pubmed.ncbi.nlm.nih.gov/22780858/

 

She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

 

We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/.  Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

 

CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

 

So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same.  So… this is our moment.

 

Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org 

 

Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

#S10e170 - Sprint is tomorrow! WODC Update. ASOs are coming… Get ready.

Friday, April 25, 2025 - DNA Day

Good luck at Sprint tomorrow.  $194k at this moment.

 

WODC Readout

Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)

RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar.

(Other  Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)

 

Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard).

ASO Update: Trials need heterogenous populations.  At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons.  Once approved, or in subsequent trials, I assume it will be available more broadly but not at first.  Trials are coming, take notes and videos.

Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn

Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/

Sign up for the conference: 222 Days!

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

Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv

Effie on TJB

https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1

 

CB Blood Drive this weekend in TN.  Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

ProMMiS Data Webinar up! New Board Sprint4SynGAP @ $168K! Catatonia ASO?s Siblings Missense #S10e169

Tuesday, April 15, 2025 – Week 16

 

CURRENT NEWS

#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! 

 

Board Announcement: https://www.eurekalert.org/news-releases/1080490

 

LEARNING ABOUT SYNGAP1

ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.

 

Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674

YT https://youtu.be/VBWa0FklYJs

 

• Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/

 

• Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder.

MORE NEWS

In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!

https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/

 

SIBLINGS

Tell your story, please for the other ones.

https://curesyngap1.org/syngap-siblings/shanaye-worth/

https://curesyngap1.org/sibling-support/

 

PUBLICATION COUNT

PubMed is at 17 YTD, 325 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

 

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

- 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,369 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 169 of #Syngap10 

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

Time to Lean In FEROCIOUSLY on Clinical Trial Readiness–Frazier CHOP/CHCO will you say Yes? #S10e168

Wednesday, April 9, 2025 – Week 15

 

Condolences to the Brimsek family and thank you John & Tobi for all your support.  We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories 

 

Trip Report, two crazy days.  Many takeaways.  Trials may be coming soon.  If there is a trail, sign up.  Every time. khuba@jcu.edu 

 

Do the Frazier Study and do the follow-ups!  https://curesyngap1.org/eye2 Global as well.  Australia, UK, Canada, please help.

 

We are busy too!  DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU 

 

Census is 1,581!  https://curesyngap1.org/blog/syngap1-census-2025-update-q1/

 

Impact report has a webinar! https://cureSYNGAP1.org/Impact 

 

Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44

 

Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill 

 

We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.

 

Other blog about the CB Roadshow, please join us there

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

 

And the Polish Community speaking out about ASO trials:

https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/

 

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

https://curesyngap1.org/sprint25 look at these faces, $66,383

https://www.youtube.com/watch?v=IW7owIsdjss

 

Bowie - Our funding goes far:

https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181 

 

Also see this from CZI, featuring SYNGAP1 in Dr. Willsey’s work https://www.czbiohub.org/life-science/unlocking-biology-autism/

 

PubMed is at 17 YTD, 324 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

 

VOLUNTEER 

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

 

SOCIAL MATTERS

- 3,996 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,391 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 168 of #Syngap10 

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

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

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

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

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: 
  • VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl
  • B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ 
  • CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl
  • RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698 

 

Episode 166 of #Syngap10 

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

Save Medicaid: A Critical Moment for Our Loved Ones

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 

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

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

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

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

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

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