CURE SYNGAP1 PODCAST aka SYNGAP10
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.
Clinical Research, AI Dx, #NL47, Survey, #Autism Press, 6 Days to Register for #SYNGAP1conf #S10e187
Saturday, October 25, 2025. Week 43.
Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/
PUBMED at 47, and low. Clinical research!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date
- CHOP EEG ProMMiS https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
- COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063
Doing surveys...
#SyngapCenus 1,675 Teacher Handout CC/VNS Citizen Paper $CAMP starts GLP Tox CIRM funds S1 #S10e186
Friday, October 3, 2025. Week 40.
#SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/
Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/
Sign up for Citizen Health
https://www.citizen.health/partners/srf
CC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_syngap1-dee-raredisease-activity-7378823288950575105-YjP3
Rhymes with recent publication from Dr. Perry on Dravet
https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118
Citizen AI Advocate avail. for SYNGAP...
F78.A1,the code for #SYNGAP1, turns 4, make sure we use it. #ICD10 for #RareDisease Update. #S10e185
Wednesday, October 1st, 2025. Week 40.
SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1
Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/
Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg
Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed
W...
DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184
Friday, September 26, 2025. Week 39.
In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and wil...
DSC - RDCRN - NCATS - NIH Press! #AAV in #Cell. SRF at CB. Scramble for SYNGAP1 next week! #S10e184
Friday, September 26, 2025. Week 39.
DSC has announced!
DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)
Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia
In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org...
You need a #CRID. SRF $1M to $CAMP noticed in Equity Research! #BeaconOfHope was great. #S10e183
Friday, September 26, 2025. Week 39.
In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & Wedbush
William Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.”
Wedbush
Ph1/2 Will Likely Begin From Ex-U.S., Aiming fo...
CURE SYNGAP1 joins biotech investors in CAMP4 Tx’s $100M Raise for ASO Program $CAMP #S10e182
Wednesday, September 10, 2025. Week 37.
CAMP4 Press Release:
https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR
Let me tell you a story:
EW Story, concern over viability of C4. Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2. Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market. But here is the good part, the data is solid, the team is strong, and th...Why & How Do Patient Advocacy Groups Matter? Party Friday! #SYNGAP1Conf soon! #Elopement #S10e181
Sunday, September 7, 2025. Week 37.
Why does CURE SYNGAP1 aka SRF matter? Do PAGS make a difference?
Heck yes.
Empower Families - Support. Educate. Activate. Coordinate. Use Money Catalytically - Tax advantage. Pool. Manage. Make Catalytic. Focus. Manage. Partner with Science & Medicine - Push forward. Connect efforts. Focus on Tx. Work in Clinic. Leverage Ecosystem. Industry. PAGs. Superpags (CB, GG, ELF). Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.Because you VOLUNTEER
Join us: https://curesyngap1.org/volu...
#IEP: Syngapians don’t like the heat 🌡️ #BeaconOfHope #IEC2025 #CitizenHealth #DSC #CFC #S10e180
Friday, August 29th, 2025. Week 35.
5th Annual Gala was a great success! cureSYNGAP1.org/Gala5
Sad to miss it? Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets.
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA! Hi Dr. Knowles!
We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM
#Bex...
GALA is now, #StokedAboutStoke, Go Grann, Our Villages, CHOP/NIH, More on Elopement. #S10e179
Friday, August 22nd, 2025. Week 34.
The 5th Annual Gala is happening now!
https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ
cureSYNGAP1.org/Gala5
Sad to miss it? Join us in Boston or South Carolina.
Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25
Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble
Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!
https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results
12 Aug...
How to talk about #ELOPEMENT in #SYNGAP1 with Schools, Judges & Police Officers. #S10e178 Monday, August 18th, 2025. Week 34.
Tony (11, M) Story. Now we sleep with the alarm on every night.
Elopement:
involves leaving a safe or supervised area without permission. poses a risk to the individual's safety. can occur in various settings. is a common behavior in individuals with ASD.Virginie (10, M) Stories and Service Dog.
Single Mom (9, M) heading to the judge and calls me asking for papers. Here you go…
Let’s note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss...
Embracing Complexity, Another Pipeline Neuren Pharma, It’s Party Time #S10e177
Friday, August 8th, 2025. Week 32.
CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.
Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.
DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/
My comments at the 2024 Conference:
curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/
PRESS
Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX
<...
Why join the Relutrigine study from Praxis for DEEs with motor seizures? - #S10e176
Wed July 30, 2025
Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.
See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/
Action: If your kid has motor seizures, fill out the screener and join this amazing study.
Link here: https://www.resiliencestudies.com/emerald
A motor seizure is a seizure where you can see something moving – inclu...
Global Overview of SYNGAP1 Natural History Studies - Support the SYNGAP1 #ProMMiS – #S10e175
July 16, 2025. Week 29.
We care because we haven’t done this before, heal those born with disease.
Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.
NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PR...
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...
