SynGAP10 weekly 10 minute updates on SYNGAP1

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

Progress in Studies, Trials & Community Milestones; Conference #S10e153

STUDIES AND A TRIAL

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

CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/

PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/

 

Science:

• Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/
• Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/ 

 

Conference - Conference is 1 month 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

 

RESEARCH UPDATE

There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!

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

Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.

https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long

 

FUNDRAISING

    - Coast2Coast Challenge $92,754 Syngap.Fund/C2C 

   - Missense Account of the Fund $25,940

https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

   - Charmander $10,585

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
  - Emmy $8,347

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research 

 

Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted

 

Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/

 

ZOOM BACKGROUND

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

 

VOLUNTEER 

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

 

FUNDRAISE

https://syngap.fund/FR 

CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

SOCIAL MATTERS

 - 1,200 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,818 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,889 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 153 of #Syngap10 

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

The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

Tuesday, October 22, 2024

First Principles

• Genetic disease means that gene broken since conception.
• Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.
• These are delivered via spinal tap or directly to the brain in leading medical centers.
• First though, regulators must approve.

 

Our job

• Develop medicines or get industry to - This is happening see Pipeline
• Get regulators to approve trials
• Get medical centers up to speed on SYNGAP1-Related Disorders (SRD)

What we are building on

• CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/
• Rare-X platform for PRO collection
• Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.

 

What we are asking for

• We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)
• Make your largest gift ever to SRF
• Fundraise with friends and family
• ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.

Key slides: S1 Path to Treatment | 2024 (09.27.24)

• 1. Why Now?  Why is it time to go from bench to bedside (research to clinical)?

• At least 10 companies on our pipeline not to mention multiple small molecule efforts

• • We have limited resources – so the focus has to transition, clinical funding first.
  • CHOP Gift is 1 year down…

• 2. Why NHS?
  • Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 
  • FYI at CHOP, as I shared in #S10e151, at year 1, we are at  – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd)  + 22 (follow up) 
  • Learn what to measure in clinical trials for SRD, remember our seizures are challenging
  • Ideally we develop a Synthetic Control Arm if we use GCP
  • Why top shelf?  We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 

• 3. Why Multidisciplinary.

• Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.

• • Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.

 

• 4. Why Multisite/3 sites?
  • Replicable/scalable required by regulators
  • Accessibility (not primary reason)
  • Establish more locations where trials will be managed
  • Laying a foundation for a national self-sustaining network
  • 3 is the minimum, look at STARR or Angelman, both had/ve 4.

• 5. How and why so fast?

• • Because we can.  Time is Brain.
  • Following a well trodden path
  • SMA, Rett, Angelman, Dravet, but we are moving FASTER.

• 6. Does the industry really care?

• • We are next there are so so many behind us, eager to take the resources we have access to today.
  • Market size (Per our Census 425 US/1500 global is tip of iceberg)
  • Multiple players reassuring each other
  • Relatively strong amount of scientific and clinical research
  • Haploinsufficiency (like Dravet – STOKE) – so relatively easy

• 7. Expensive?

• • No. Clinical Research is more expensive than basic scientific research.
  • Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. 
  • It’s time.

• 8. Why Bother/Help?

• • Now is the time for SYNGAP1, we miss it at our peril.
  • Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.
  • Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.
  • If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked.  We must ask.

• 9. What can I do?

• • Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical
  • $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.
  • This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours?
  • Syngap.Fund/C2C

 

https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge

 

Two teams: 

https://Syngap.Fund/West & https://Syngap.Fund/East