SynGAP10 weekly 10 minute updates on SYNGAP1
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
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
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
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
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.
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
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
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
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
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
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
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
Friday, February 28, 2025 - Week 9
Hope vs. Despair?
Despair:
NIH CutsNBC 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
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
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
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
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
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
Friday, January 10, 2025
NEWS
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
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-GESyhttps://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
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
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
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
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
📝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
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
📝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
📝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
📝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
📝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
📝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
📝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
📝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
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
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
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
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
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
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
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
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...
