SynGAP10 weekly 10 minute updates on SYNGAP1

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By: Syngap Research Fund, 501(c)(3)

SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.

CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174
#175
Last Monday at 9:01 PM

July 7, 2025 Week 28

 

ADAMS CAMP

https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ 

 

CENSUS & WHY WE WILL SEE MORE PATIENTS

AAP recommends Whole Exome as a first line test for GDD/ID.

https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_

 

SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is. 

https://curesyngap1.org/census/

https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0


TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25
#174
06/20/2025

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO

https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD 

 

Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua 

 

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

 

CAMP4 Update - Hear it from them, in our US or EU Webinar.

 US https://curesyngap1.org/resources/webinars/1...


CAMP4, JAX and Allen present about ASCGT, JHU Article, CRISPR, Repurposing, 4PB & SRF News #S10e172
#173
05/19/2025

Sunday May 18, 2025. Week 21

 

Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ 

 

CAMP4

Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders

Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo

Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations

GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl 

 

To get these Therapies to kids the NHS data is key, ProMMis

CHOP - Email...


ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete Andrade Study ASAP.   #S10e171
#172
05/01/2025

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...


#S10e170 - Sprint is tomorrow!  WODC Update.  ASOs are coming… Get ready.
#171
04/26/2025

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 (narr...


ProMMiS Data Webinar up! New Board Sprint4SynGAP @ $168K! Catatonia ASO?s Siblings Missense #S10e169
#170
04/15/2025

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. Kno...


Time to Lean In FEROCIOUSLY on Clinical Trial Readiness–Frazier CHOP/CHCO will you say Yes? #S10e168
#169
04/10/2025

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 announ...


Global CTR Survey, Two New PRs, Sprint4Syngap Hype & Community Voices - #S10e167
#168
03/26/2025

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 me...


SYNGAP1 #UnMetNeed bucketed by Medical, Behavior/ID & Impact on Family - #S10e166
#167
03/18/2025

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...


Save Medicaid: A Critical Moment for Our Loved Ones
#165
03/12/2025

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 toge...


Tell me your UnMet Need. CHCO ProMMiS!  Gut Paper with Citizen Health.  Rx Repurposing  - #S10e164
#166
03/12/2025

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

 


RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163
#163
03/01/2025

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/

 

Ho...


We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162
#162
02/25/2025

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...


Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161
#161
02/12/2025

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.linked...


Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160
#160
02/04/2025

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 SH...


Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159
#159
01/28/2025

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 Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025
#158
01/15/2025

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...


2025 is the year we double down on SYNGAP1.  Tune in now. -  #S10e157
#157
01/10/2025

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...


AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156
#156
12/18/2024

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/s...


Annie -  #S10e155
#155
11/26/2024

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<...


Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154
#154
11/16/2024

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://sy...


Progress in Studies, Trials & Community Milestones; Conference #S10e153
#153
11/02/2024

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: htt...


The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152
#152
10/22/2024

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 Disor...


Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151
#151
10/18/2024

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

 

Census is at 1,497! Syngap.Fund/Census

 

Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox

 - UFD Tech, $52,094

 - Scramble, $28,000

 

 Current Efforts:

    - Coast2Coast Challenge $42,691 Syngap.Fund/C2C 

   - Missense Account of the Fund $23,684

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 $8,173

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


UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150
#150
09/24/2024

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

 

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu 

 

Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 

SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing 

 

We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/

 

Chronic Grief 

Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/ Shor...


Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149
#149
09/10/2024

📝Full show notes: https://syngap.fund/n149

 

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu 

 

SRD JOINS CFC #33321

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

 

PRESS ABOUT FOF (Friends of the Fund)

Praxis https://firstwordpharma.com/story/5891543

Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/

 

RESEARCH UPDATE

There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024!  Now in 3rd place, but this year will be over 43, I’m certain.

https://p...


Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148
#148
08/22/2024

📝Full show notes: https://syngap.fund/n148

 

BACK TO SCHOOL 2024

Push the schools to do better, at every turn.

Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia

 

STUDY

https://Syngap.Fund/UB (Unravel Biosciences)
3 forms to fill out, please let us know if you want to participate.

 

PRESIDENT & COO SEARCH

https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/

 

RESEARCH UPDATE

There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in...


#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147
#147
08/12/2024

📝Full show notes: https://syngap.fund/n147 

 

FDA Talk this week!  Thank you Beacon! https://syngap.fund/fda24   

 

SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun.  JK & JJ are amazing. 

https://curesyngap1.org/team/leadership-team/jackie-kancir/ 

 

ADULT ADVOCACY

SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult

Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk
Foundation: https://colinfarrellfoundation.org/

WaPo Article: https...


Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146
#146
07/27/2024

📝Full show notes: https://syngap.fund/n146

 

Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110 

 

Newsletter #39 - syngap.fund/NL39 

https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566

 

Cafe Syngap16

https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/

 

Zempleni Grant

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/

 

Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC

Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-his...


A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145
#145
07/12/2024

📝Full show notes: https://syngap.fund/n145

 

2020 COBA GRANT

https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/ 

SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/

 

2022 QUADRATO GRANT & 2022/3 PAPER

MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full 

SRF PR: https://www.eurekalert.org/news-releases/1050685

 

2022 ANDERSON GRANT & 2024 PAPER   

Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/

Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV 

Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/

Transformatx Biotheraputics LLC:

...


1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144
#144
07/03/2024

📝Full show notes: https://syngap.fund/n144  

 

CENSUS = 1,454 

https://curesyngap1.org/how-many-people-have-syngap1-census/

STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 

 

FUNDRAISING

Missense Account of the Fund

https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE
Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc 

Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ 

Emmy 

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

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

 

<...


Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143
#143
06/19/2024

📝Full show notes: https://syngap.fund/n143  

 

BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp 


GRANTS APPROVED

Multiple grants and agreements approved, wait for press releases.  Thank you Aaron & Sarah, Lauren!

FUNDRAISING

 - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth.  Also Dr Jillian McKee!

 - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.

 

...


NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142
#142
05/31/2024

Full show notes: https://syngap.fund/n142 

 

BIG NHS UPDATE

66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled.

Colorado should start seeing patients in August!


WHERE TO DONATE

MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite  


BLOOD: June 7 & 8, Loews Coronado Bay Resort, email CSO@cureSYNGAP1.org

TIME TO JOIN #TEAMSRF

 - Volunteer Webinar: https://syngap.fund/LT
- Fifty families lent their good name...


SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141
#141
05/20/2024

JOIN SRF LT on Thursday:

Volunteer Info session with Leadership Team is this week: 

https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.

 

MDBR is 3 weeks away! https://Syngap.Fund/Unite  

$5k match https://x.com/phalliburton/status/1792288377049415835

 

It’s all about therapies.  Precision Genetic and Repurposed.

 

Conferences are where we engage professional communities around SYNGAP1 & SRF.

 - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program

 - This week I...


Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140
#140
05/02/2024

Read Jackie’s article on profound autism, be grateful she is an SRF Leader.

https://helenjournal.org/april-2024/achieving-equity 

 

Watch Brett’s 2 min talk on his son, he’s on your team too.

https://x.com/UFDTech/status/1785111914168594894 

 

Look at all these families that raise a quarter million dollars via #Sprint4Syngap

2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ

 - $243k, 844 donors

 - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/
- Reef’s family also found connection by he...


SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139
#139
04/23/2024

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139

Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)
SRF is the same:
- Raise Funds to Change the Future
- Volunteer, contribute to a larger effort
- Connect with other families
- Share our experience to make broader knowledge
- Learn from each other and scientists

Raise Funds
#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
 - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd ...


Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
#138
04/04/2024

TOGETHER WE ARE STRONGER

 - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/

 - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?” 

 - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001

 

WELCOME AND CONNECT

 - New parents are coming fast, reach out to them, tell them how much hope to have.

 - Connect, connect, connect.

  - San Diego nex...


Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137
#137
03/26/2024

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/) 

 

Stoke Therapeutics #StokedAboutStoke

Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential 

I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706 

This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew 

 

Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11 

 

Longboard Pharma  https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial 

 

Studi...


SYNGAP1 Ciitizen Paper is out!  UCB Survey.  UCSF is discovering SYNGAP.  #Sprint4SYNGAP 2024 is on!  Fitter at the WH. #S10e136
#136
03/16/2024

Do this study for UCB: https://Syngap.Fund/QOL24 

 

Two killer publications:

Boston -

https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9 

Penn/ENDD - 

https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X 

Email Info at CureSYNGAP1 dot org for PDFs!

 

Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!  

Background: https://www.youtube.com/watch?v=pagFzSmYK8E 

 

Repurposing is moving apace!  More as we have it.  Ravicti. But...


#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great, year, get some #RareBrewCoffee! #S10e135
#135
03/05/2024

DC was epic, come next year!

- Board Meeting and Leadership Team.

- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!  

https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l

- Last week of Feb, don’t miss it.

 

#RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10

 

Reflecting on the latest Rick Huganir paper

- This was in part supported (as acknowledged) by our first...