SynGAP10 weekly 10 minute updates on SYNGAP1

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

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

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 

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

 

SOCIAL MATTERS

- 3,925 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,512 Twitter https://twitter.com/cureSYNGAP1

- 47k 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 161 of #Syngap10 

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

Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

Tuesday, February 4, 2025 - Week 6

 

CONVO - Parent of 18 year old

• Travel now.
• Get meds under control fast
• Don’t do this alone
• Don’t give up on the adults
• Find doctors who want to learn and think, not dictate.

 

STUDIES OF THE WEEK - FRAZIER

https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

Don’t underestimate this tool, please take part in this study.

 

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

 

ADVOCACY SHOUT OUT

https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios

 

REGULATORY UPDATE - Feb 4 at 4PM EST.

https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy

 

EF on EPILEPSY
Instagram - Facebook - LinkedIn - X

 

RESEARCH UPDATE

There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 7 (but really 8 if you count Coller) for 2025.

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

 

• • James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/
  • JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/

 

VOLUNTEER SPOTLIGHT

Aaron Harding is tireless 

• Donate: https://giving.classy.org/campaign/661441/donate

• Video - https://youtu.be/7LprhkhyU5I

 

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

VOLUNTEER 

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

 

SOCIAL MATTERS

- 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,550 Twitter https://twitter.com/cureSYNGAP1

- 47k 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 160 of #Syngap10 

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

Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

Tuesday, January 28, 2025 - Week 5

 

STUDIES OF THE WEEK - ROCHESTER 3

We need 3 more 0-2 Year olds.

https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/

 

NYU - CureSYNGAP1.org/NYU

https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/

 

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

 

STUDY HUDDLE on THURSDAY!

1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU

 

COMPANY OF THE WEEK - Minovacca

SRF put Neuro on their radar and now they are building a company.  

https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery

 

Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

 

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

https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html

 

PATIENT ENGAGEMENT IMPROVES OUTCOMES

https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/

 

RESEARCH UPDATE

There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 4 (but really 5 if you count Coller) for 2025.

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

• Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/
• Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1
• Correction on China census paper, it was a review, we will not up the census.

Note: Coller began working on SYNGAP1 with SRF support in 2022!  See https://www.eurekalert.org/news-releases/966873

 

VOLUNTEER SPOTLIGHT

Deanna N. Rorie nee Farley.  Longest running SRF Volunteer ever.  Big thanks for all the Warriors.

 

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

VOLUNTEER 

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

 

SOCIAL MATTERS

- 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,565 Twitter https://twitter.com/cureSYNGAP1

- 47k 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 159 of #Syngap10 

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

SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

RESEARCH UPDATE

There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 2 for 2025.

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

 

Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246!

Check out these social posts on our https://cureSYNGAP1.org/SRFPaper 

• https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ
• https://x.com/cureSYNGAP1/status/1879272983077781804
• https://fb.watch/x6KdWuLSA8/

 

STUDIES AND TRIALS ARE HAPPENING NOW
https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

FUNDRAISING

• Coast2Coast Challenge $359,280 Syngap.Fund/C2C 
• FUNDRAISE https://syngap.fund/FR 
• #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

 

VOLUNTEER SPOTLIGHT

Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/

 

CONFERENCE

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

 

VOLUNTEER 

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

 

SOCIAL MATTERS

- 1,260 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 3,906 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

- 11,670 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.com/curesyngap1/ 

- 464 TikTok https://www.tiktok.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 158 of #Syngap10 

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

2025 is the year we double down on SYNGAP1. Tune in now. - #S10e157

Friday, January 10, 2025

NEWS

• • Census = 1,530! https://cureSYNGAP1.org/Census
  • https://cureSYNGAP1.org/NL42

• All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24

• Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/

 

AES

JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready.

Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/

 

STUDIES AND TRIALS ARE HAPPENING NOW
Rochester, Eye Tracking, Sleep.  Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up…
https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

FUNDRAISING

• Coast2Coast Challenge $338,280 Syngap.Fund/C2C 
• FUNDRAISE https://syngap.fund/FR 
• Go Nikolas! $3,780  https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser
• #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025

 

VOLUNTEER SPOTLIGHT: 

Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/

 

RESEARCH UPDATE

There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 0 for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

 

CONFERENCE

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

 

VOLUNTEER 

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

 

SOCIAL MATTERS

- 1,250 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 3,899 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

- 11,688 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.com/curesyngap1/ 

- 464 TikTok https://www.tiktok.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 157 of #Syngap10 

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

AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

Tuesday, December 17, 2024

 

Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Summary: http://www.draccon.com/dracaena-report/2024aes

A few comments:

• https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
• https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
• https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
• https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy
  https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq
  https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
• https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf

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

 

https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification

STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

Two trials to consider

https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25

https://deepdeestudy.com/ list of sites: NJ & FL

 

BONES

• https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0 
• https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/

 

FUNDRAISING

• Coast2Coast Challenge $207,974 Syngap.Fund/C2C 
• Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge
• FUNDRAISE https://syngap.fund/FR 
• CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

VOLUNTEER SPOTLIGHT: 

Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/

Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/ 

 

RESEARCH UPDATE

There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest are from Willsey & Frazier.

Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1

Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290

 

VOLUNTEER 

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

 

SOCIAL MATTERS

- 1,240 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 3,883 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

- 11,739 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.com/curesyngap1/ 

- 464 TikTok https://www.tiktok.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 156 of #Syngap10 

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

Annie - #S10e155

Tuesday, November 26, 2024

Annie Passed yesterday #SynGAPAngel 

https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop 

 

SRF NEWS

• Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/
• New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs

 

Two trials to consider

• https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25
• https://deepdeestudy.com/ list of sites: NJ & FL

 

Two studies we all need to sign up for

• Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
• Citizen Health https://www.citizen.health/partners/srf 

 

Conference - Conference is 9 days away!

• Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
• Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

 

FUNDRAISING

• Coast2Coast Challenge $152,592 Syngap.Fund/C2C 
• Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
• FUNDRAISE https://syngap.fund/FR 
• CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

VOLUNTEER SPOTLIGHT: Stephanie Decker

https://www.linkedin.com/in/stefanie-decker-cpa-38776696/

 

ZOOM BACKGROUND

https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing 

 

VOLUNTEER 

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

 

SOCIAL MATTERS

 - 1,230 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,851 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,779 Twitter https://twitter.com/cureSYNGAP1
- 47k Insta https://www.instagram.com/curesyngap1/
- 456 TikTok https://www.tiktok.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 155 of #Syngap10 

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

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

Friday, November 15, 2024

 

SRF NEWS

• Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf
• Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/
• Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!
• Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families
• We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/
• Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe

 

4MTx Announcement and direct impact on pipeline

• https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr
• https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
• Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2

 

RESEARCH UPDATE

There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest is from Frazier!

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

Sign up for Frazier https://syngap.fund/eye2 

https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

 

More Grants at work Science:

• Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/
• New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp
• Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO
• Thank you Corey Baysden for getting the Studies so well organized!  https://curesyngap1.org/resources/studies/

 

Conference - Conference is 18 days away!

• Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
• Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

 

FUNDRAISING

• Coast2Coast Challenge $120,642 Syngap.Fund/C2C 
• Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
• FUNDRAISE https://syngap.fund/FR 
• CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

VOLUNTEER SPOTLIGHT:Amber Mickler 

https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK 

 

ZOOM BACKGROUND

https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing 

 

VOLUNTEER 

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

 

SOCIAL MATTERS

 - 1,220 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,847 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,815 Twitter https://twitter.com/cureSYNGAP1
- 47k Insta https://www.instagram.com/curesyngap1/
- 442 TikTok https://www.tiktok.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 154 of #Syngap10 

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