SynGAP10 weekly 10 minute updates on SYNGAP1

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 them ENDD@chop.edu

Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/

Citizen Health

https://cureSYNGAP1.org/Citizen is at 267, why not 300?

Hopkins article featuring SRF - Competition is good for the patient

FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl

LI

https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB

ASGCT

• Mouse poster for Q504X from the JAX, Dr. Matt Simon

• Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY 

• Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan

What about this guy?

Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share 

PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM

Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo

More incredible news

https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge

REPURPOSING

Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap

#Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ 

Butyrate Update

https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy

Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper.

SunButyrate https://a.co/d/7kiHXS8 

PUBMED 

328 total with 20 YTD

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded

Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub

SRF Fundraisers

MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/

Well done to Tavilla and Jones!  We are over $221k

Tavilla clears $160k for Sprint.

https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255

Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated.  Amazing and thank you to Krispy Kreme. 

https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677

SRF PROFILES

Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P

Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/

Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior

PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE

https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

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 one”

Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

https://pubmed.ncbi.nlm.nih.gov/33677403/

https://pubmed.ncbi.nlm.nih.gov/28186331/

https://pubmed.ncbi.nlm.nih.gov/22780858/

She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/.  Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same.  So… this is our moment.

Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org 

Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

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 (narrow C4/STK) and broad (Tevard).

ASO Update: Trials need heterogenous populations.  At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons.  Once approved, or in subsequent trials, I assume it will be available more broadly but not at first.  Trials are coming, take notes and videos.

Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn

Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/

Sign up for the conference: 222 Days!

https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv

Effie on TJB

https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1

CB Blood Drive this weekend in TN.  Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

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. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674

YT https://youtu.be/VBWa0FklYJs

• Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/

• Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder.

• 
  

MORE NEWS

In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!

https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/

SIBLINGS

Tell your story, please for the other ones.

https://curesyngap1.org/syngap-siblings/shanaye-worth/

https://curesyngap1.org/sibling-support/

PUBLICATION COUNT

PubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident)

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

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

VOLUNTEER 

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

SOCIAL MATTERS

- 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,369 Twitter https://twitter.com/cureSYNGAP1

- 46k 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://cureSYNGAP1.org/SRFApple 

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 169 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

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 announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU 

Census is 1,581!  https://curesyngap1.org/blog/syngap1-census-2025-update-q1/

Impact report has a webinar! https://cureSYNGAP1.org/Impact 

Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44

Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill 

We have one space available in Colorado on May 20, 2025, email Lauren@curesyngap1.org to sign up.

Other blog about the CB Roadshow, please join us there

https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

And the Polish Community speaking out about ASO trials:

https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/

#Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $66,383

https://www.youtube.com/watch?v=IW7owIsdjss

Bowie - Our funding goes far:

https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181 

Also see this from CZI, featuring SYNGAP1 in Dr. Willsey’s work https://www.czbiohub.org/life-science/unlocking-biology-autism/

PubMed is at 17 YTD, 324 in total (trending to 52+, but I’m not as confident)

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

VOLUNTEER 

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

SOCIAL MATTERS

- 3,996 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,391 Twitter https://twitter.com/cureSYNGAP1

- 46k 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 168 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

#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 meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/

PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/ 

#Sprint4Syngap 2025 is in one month! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss

Getting to know our community:

- Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories 

- Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/

- Sibling Story with Kallen https://cureSYNGAP1.org/Sibling 

- DW of SRF AUS https://www.facebook.com/reel/1345989426605772

- Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25  

- Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24 

PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident)

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

Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf

This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

Thank you for the 15 glowing reviews of SRF on Great Nonprofits!

https://www.cureSYNGAP1.org/GNP

VOLUNTEER 

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

SOCIAL MATTERS

- 3,971 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,311 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,427 Twitter https://twitter.com/cureSYNGAP1

- 46k 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 167 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

- Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate 

- ARC of US: https://p2a.co/lRPDZ5C 

What Medicaid means to your family: https://action.thearc.org/3jLx90b

#MEDICAIDCANTWAIT

https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/

Episode 165 of #Syngap10 

#Advocate #PatientAdvocacy #SYNGAP1 #SynGAP

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

Willsey Lab on Gut Motility, congratulations to Kate McCluskey

https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf

Citizen Health Data in there!

https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3vCitizen Health -  https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen

Family Conf Video on Drug Repurposing

https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl.  

Thank you Lindsay.

Unravel BioSciences Discussion/Podcast

Short: https://www.youtube.com/watch?v=xcB8pv2lKRI

Long: https://www.youtube.com/watch?v=CYb0ghaRKm8 

LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl

Bio-Repository and Roadshow Dates

https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3

April 24-25th Nashville, TN

June 14-15th Westminster, CO

June 18-21th St. Louis, MO

June 27-28th Phoenix, AZ

July 10-12th Boston, MA

July 18-19th Denver, CO

July 19-20th Westminster, CO

July 19-20th Windsor Locks, CT

Sept/Oct TBD Philadelphia, PA

Dec 4-5th Atlanta, GA

Share glowing reviews of SRF on Great Non-Profits!

https://www.cureSYNGAP1.org/GNP

ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled.  Time to go for ICD-11s.

https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html

DoD Funding

https://umdf.org/cdmrp_cuts_action/

#MEDICAIDCANTWAIT

https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/

Episode 164 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

• NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT 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 Cutshttps://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/

• Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612

• President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/

• DOGE head who also doesn’t care

https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/

Hope:

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

• Community https://curesyngap1.org/team/

• Global: https://syngapglobal.net/

• ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes 

Disability is Political

Take it or Advocate?

Taking it does not work.  

Advocate:

• SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/

• ELF https://everylifefoundation.org/

• Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/ 

• Alliance for a Stronger FDA https://www.strengthenfda.org/ 

• Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/ 

Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391 

Responsibility to those who cannot or will not be here.  10% of Americans.  10k diseases, all chronic.  Childhood.  Do not have FDA approved treatments, no cures.  Staggering Financial Costs aka Toxicities.  Efforts to date have allowed for interventions that may still matter.  We have invested so much.  

Episode 163 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS 

SPRINT4SYNGAP - April 26, 2025

Webinar: cureSYNGAP1.org/S4S25

Guide: cureSYNGAP1.org/S4SGuide

LEVERAGE ON OUR GRANTS

#Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE

STUDY OF THE WEEK - Email syngap-study@beacon.bio

Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/ 

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

IMPACT REPORT

NL43 cureSYNGAP1.org/NL43 

ONLINE DID YOU KNOW

We have a calendar now! https://curesyngap1.org/calendar/

Brochure is updated: cureSYNGAP1.org/Brochure 

YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2 

COMPANY OF THE WEEK - Stoke & Biogen!

STK ($0.45Bn) partners with BIIB ($20.5Bn)

https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and

#SpecialNeedsTRAVEL

e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories 

Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V

RESEARCH UPDATE

There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 10 (Coller included) for 2025.

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

• Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290

VOLUNTEER SPOTLIGHT

Toby and John Brimsek are tireless.  Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/ 

VOLUNTEER 

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

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

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

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full

SOCIAL MATTERS

- 3,937 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1.28k YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11.5k Twitter https://twitter.com/cureSYNGAP1

- 46.6k Insta https://www.instagram.com/curesyngap1/ 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources 

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 162 of #Syngap10 

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

Impact 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 are317 papers on or related to SYNGAP1 since 1998, but54 of those are in 2024!  So far8 (but reall 9if 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

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

VOLUNTEER 

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

SOCIAL MATTERS

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

-11,512Twitterhttps://twitter.com/cureSYNGAP1

-47k Instahttps://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

Episode161 of #Syngap10 

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

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 EPILEPSYInstagram - 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

CONFERENCEPre-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

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.

CONFERENCEPre-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

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 NOWhttps://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

• 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 NOWRochester, 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

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-x2pqhttps://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

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/id6464522917Episode 155 of #Syngap10 

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

• 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/id6464522917Episode 154 of #Syngap10 

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

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/id6464522917Episode 153 of #Syngap10 

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

• 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

📝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-fund-syngap1-research 

ONLINE SHOPPINGS

EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038 

Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/

FRAZIER STUDY - Half enrolled!

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

CHOP is 1!

 - 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd)  + 22 (follow up) = DATA

 - https://x.com/cureSYNGAP1/status/1843684785740255303  

School and Behaviour

• Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors

• Do you have an advocate and a lawyer? I just got an email from an advocate.  We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox

On the site

• Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect

• Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox 

• Syngap.Fund/InsWin Insurance with Sara Driscoll 

Vicky & Merlina are unstoppable

• SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W

• Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP 

• Cafe SYNGAP1 is up to 20!  Syngap.Fund/Cafe 

Conference - Conference is 47 days away

• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

• Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A

Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin

https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb 

MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study

RESEARCH UPDATE

There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!

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

So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG…

https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7

VOLUNTEER 

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

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 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!

SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024

#epilepsy #autism #intellectualdisability #id #anxiety

📝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/

• Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w

Conference - Conference is 72 days away

• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

• Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A

• Sponsor alongside Jones, Wieczrek and Graglia.  

PR out this week 

• Lacoste (https://Syngap.Fund/PR28)https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/

• Devinsky (https://Syngap.Fund/PR29)https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/

UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh! 

• September 23 3:00 Eastern to Sept 30 noon. 

• https://www.justgiving.com/page/ufd-2024

• https://www.youtube.com/watch?v=DtOyV2FNJ-s

PRESS ABOUT FOF (Friends of the Fund)

Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome

RESEARCH UPDATE

There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024!  Now tied for 2nd place with 2009, but this year will be over 43, I’m certain.

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

Three papers to note:

• Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false

• Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2

VOLUNTEER 

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

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $23,684

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

Emmy $8,173

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

Charmander $5,303

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

YOU?

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

CB Blood Donation accelerates Science!  These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

Episode 150 of #Syngap10 - Tuesday, September 24th, 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://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Three papers to note:

• Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/

• Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/

• Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism.  Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE

CHRONIC GRIEF

We have to talk about this.  We all need support.  Pretending this isn’t happening is a disservice to ourselves, our kids and our families.

VOLUNTEER 

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

FUNDRAISE

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!

Smarts for Syngap - DC Trivia Night - Congratulations

Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $23,684

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

Emmy $8,147

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

Charmander $5,150

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

YOU?

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

CALENDAR MANAGEMENT

Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients)

CB Blood Donation accelerates Science!  These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,090 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,765 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 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!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 149 of #Syngap10 - Monday, September 9th, 2024

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

📝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 2024!  Tied for 3rd place, but this year will be over 43, I’m certain.

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

Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID

https://pubmed.ncbi.nlm.nih.gov/39148034/

PRESS ABOUT FOF (Friends of the Fund)

Fondo joins FECOR - 

​​https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1

JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues

TJB - 

X https://x.com/JMGraglia/status/1825949467973136804L

https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktopF https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl

VOLUNTEER NEEDS

Thank you Grants, Aaron & Sarah

Fundraising and FinanceVolunteer! https://curesyngap1.org/volunteer-with-srf/

https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ 

Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024

Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,684

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

Emmy $6,549

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/

CALENDAR MANAGEMENT

Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

Conference Registration - 57 for Science Day & 66 for Family Day 

CB Blood Donation accelerates Science!  These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,070 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,744 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 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!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 148 of #Syngap10 - Wednesday, August 21th, 2024

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

📝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=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/

WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/

LEVERAGE PARTNERS

https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/

Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/

SCIENCE TEAM

PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data

PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis

PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight

PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel

PROJECT FACILITATE - Tools and Reagents - Mice work in flight

RESEARCH UPDATE

There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024!  We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers.  I’ve seen multiple papers being submitted lately, it’a actually hard to keep up.   LINK

LATEST PAPER: https://www.eurekalert.org/news-releases/1053579

WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/

FUNDRAISERS!

Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/ 

3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)

Smarts for Syngap - DC Trivia Night - 24 Days!

Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,684

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

Emmy $6,449

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/

CALENDAR MANAGEMENT

Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)

CB Blood Donation accelerates Science!  These samples are being used today!

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Cafe Syngap1 #17

https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811Episode 147 of #Syngap10 - Sunday, August 11th, 2024

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

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-history-study-at-childrens-hospital-colorado/

Will not collect for biobank!

Top 5 from Abbott webinar:

• Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest. 

• This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research.

• Model successful with other rares, ie CDKL5 and STXBP1.

• Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned.

• SRF board approved travel reimbursement. 

Dinner on Saturday, talk to Lauren

To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org. 

FUNDRAISERS!

Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

Missense Account of the Fund $21,534

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

Emmy $5,799

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/

CALENDAR MANAGEMENT

Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

CB Blood Donation accelerates Science!  These samples are being used today!

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

Hi Zoe! Do you have LGS?

Harmony Biosciences bought Epigenyx

https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html

This write is a bit incomplete as it just says 5-HT2, which is a just receptor family:

5-HT2A

5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor 

5-HT2C - bexicasarin selectively activates this.

SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,060 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,703 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,016 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 417 TikTok https://www.tiktok.com/@curesyngap1

Here is a way to use it #SyngapSeizure

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 146 of #Syngap10 - July 27, 2024

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

📝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:

https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company

MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer 

TAKEAWAY: Focus on the clinic, and let the best therapy win.

CLINICAL NETWORK / NHS UPDATE

COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott 

To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, Lauren@curesyngap1.org. 

CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

FUNDRAISING

Missense Account of the Fund $10k+

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

Emmy $5k+

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/

CALENDAR MANAGEMENT

Rare Across America is 24 days away, registration ends in 10 days!

https://everylifefoundation.org/rare-advocates/rare-across-america/ 

Conference is 146 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,050 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,685 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 145 of #Syngap10 - July 11, 2024

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

📝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-uSYEExplainer - 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/

PHARMA

https://www.longboardpharma.com/

http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy

CIRM

Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497 

Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx 

Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia 

HOPE - Caring for your SYNGAPian

Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ 

My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698

Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/

Heat is not good - We need a blog here…

Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/ 

CLINICAL NETWORK / NHS UPDATE

COLORADO webinar next week! https://syngap.fund/Abbott

July 11, 2024 at 9 Pacific.

CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

CALENDAR MANAGEMENT

Rare Across America is 34 days away, registration ends in 10 days!

https://everylifefoundation.org/rare-advocates/rare-across-america/ 

Conference is 156 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

SHOUTOUTS

JACKIE NEW ED OF NCSA

https://www.ncsautism.org/blog/ed

Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey… 

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,040 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,660 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 144 of #Syngap10 - July 2, 2024

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

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

BIO WAS GREAThttps://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 UPDATE

Colorado should start seeing patients in August!  Don’t cancel CHOP appointments, some people have no choice.

CHATS WITH INDUSTRY

Prevalence: 

They are easily missed.  The math is clear.  Lots of data.  1% of ID = 35k+

1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.

5/100k = 180. A YEAR.

Caren is 65.

36 x 65 = 2,340 PTVs vs 400 SRF knows about)

https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/

CALENDAR MANAGEMENT

Rare Across America is 28 days away, register now:

https://everylifefoundation.org/rare-advocates/rare-across-america/ 

Conference is 170 days away & Registration is live!

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf 

CB Blood Donation accelerates Science!

STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

SHOUTOUTS

 - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/

 - We need a Pavel award.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,030 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 10,421 Twitter https://twitter.com/cureSYNGAP1

 - 3,652 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 143 of #Syngap10 - June 18, 2024

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

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

📺Full video here: https://youtu.be/5KLkpzBBBSQ

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 names to SRF in this wonderful blog: https://syngap.fund/Community 

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

CHATS WITH INDUSTRY

 - Is IT delivery a blocker for precision therapies, NO!

 - 2026 is feeling like the earliest we see trials.

 - BIO with Kathryn next week!

CALENDAR MANAGEMENT

Rare Across America is 66 days away, register now:

https://everylifefoundation.org/rare-advocates/rare-across-america/ 

Conference is 188 days away:

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

PUBLICATION ALERT

https://x.com/cureSYNGAP1/status/1795837761678962799 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,020 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 10,000 Twitter https://twitter.com/cureSYNGAP1

 - 3,591 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024

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

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 was at the #Ultragenyx Bootcamp with our CSO

https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.

 - ASGCT was last week and that means announcements…

 - Kathryn and I are off to BIO in June in San Diego.

Ionis for Angelman

https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX 

Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y 

Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO 

Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ

Repurposed therapies are just as important.

1. Cost effective.  Globally available.

2. They are here now.  We must act, the suffering is immense.

3. They show us what is improvable and therefore inform clinical trial design.

4. They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials?

5. Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.

Review of repurposed drugs:

RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here.

NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro.

ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

 - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 9,900 Twitter https://twitter.com/cureSYNGAP1

 - 3,560 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 141 of #Syngap10 - May 20, 2024

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

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 helping SRF, video coming soon.

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

 - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/

 - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program

It takes a village.

We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow.  The more we unify, the faster it grows.

v1 Drugs - Data - Biomarkers & Endpoints

v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS

 - 990 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,552 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1

 - 49k TikTok https://www.instagram.com/curesyngap1/

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024

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

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 

Studies

https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ 

CHOP: ENDD@chop.edu 

Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view 

QOL: https://Syngap.Fund/QOL24    

Fundraisers

247 supporters have us at $79k

Team Tavilla is over half of that at $47k

Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.

Rifton bike for S4S anyone at $500+.  247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/

https://givebutter.com/ALjJXJ

Social Matters

953 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1 

Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024

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

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 grant, 5 years ago we funded 10x that last year.

- We are not a Rasopathy!  https://x.com/cureSYNGAP1/status/1763644994685153654?s=20 

- We need to have Prof. Huganir do a webinar!

#DEI #SyngapWhileBlack Nice work Petersen family

https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/

State Coordinators and Advocates Sign up

- We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform

- Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories

We still do warriors, 198 is from Poland!

- https://x.com/cureSYNGAP1/status/1763006900939956252?s=20

- https://curesyngap1.org/syngap-warriors/igor/- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/

Repurposing - Thought for the week

- When you try a new molecule, any new molecule, take notes, videos and pictures.  - IF a drug increases cognition, expect frustration, at first.- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing.  https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z 

Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000

https://www.youtube.com/@CureSYNGAP1

List of repurposed drugs:

• Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8

• Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws

• NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ 

• Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs 

• Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/

Siblings - Order a kit, thank you UCB @UCBUSA 

https://curesyngap1.org/sibling-support/

Ed’s notes:

- Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY

- Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view

- Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/

Scholarship

- UCB USA Family Epilepsy Scholarship

   - Blog - https://Syngap.Fund/UCB24

   - Diagnosed with Epilepsy or immediate family member or caregiver

   - Seeking higher education

   - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view 

Fundraising

- Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24  https://www.rifton.com/  (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)

..........

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 135 of #Syngap10 - March 3, 2024

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

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!

Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A 

The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.

Repurposing: 

Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say”

Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38

List of repurposed drugs:

• Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8

• Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws

• NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ 

• Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs 

• Fycompa® (perampanel) - Need to have a webinar on this.

Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow.

Ethics. Is it ethical to sit back and let our kids suffer?

Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too!

Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html

Upcoming

• Rare Disease Day - join us in DC; two blog posts:

• Rare Disease Day 2024 - what is it and how can you help SYNGAP1?

• You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

• #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

Fundraising

• Getting organized:

• MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 

• 2nd annual Golf Tourn in Canada 6/8

• CFTC early-mid Sept? Link to past events is here:  https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/ 

• 3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 

• 4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here:  https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

• 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024

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

JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/

ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/ 

Mike’s Gene Therapy Cheat Sheet

https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing 

TAKE THE ROCHESTER SURVEY

https://redcap.link/NDDCaregiverSurvey 

SPRINT FOR SYNGAP24 is on!

https://Syngap.Fund/Sprint24

APARITO ANNOUNCEMENT

LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/

X - https://x.com/cureSYNGAP1/status/1751969751621046667

FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl

This is the program: https://www.aparito.com/patient-group-programme/

RAVICTI GROUP

https://www.facebook.com/groups/butyrate/

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 132 of #Syngap10 - February 6, 2024

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

- VNS, very few meds.  If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/

- Little lady on Kepra finally getting a new drug.

- Big man getting really odd care, based on EEG

These kids are so complicated and the system is just not ready.  We can help by supporting the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ 

REPURPOSING

Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention.  We have a hit from Chow that we are validating.  Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here.

Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_ 

Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm

I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha.  https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv

New Things to Know about!

CHANGES STUDY

New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later

Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view

All Studies: https://curesyngap1.org/studies/

UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24

• Application deadline March 15

• Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/

New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago

Rare Disease Day

• What is Rare Disease Day & why is it the last day in February?

• You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

Fundraising

• Get Ready for Sprint - save the date 4/27/24

• Getting organized:

  MDBR 6/8

  2nd annual Golf Tourn in Canada 6/8

  3rd annual Scramble 10/5

  4th annual SRF Gala honoring Caren Leib 10/18

  3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre

  
  

• New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024

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

• Meet a couple of new parents, hi Stacey Miller.  Conf planning for LA is ON!  Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ 

• See Corey's trip to NYC.  You need countable seizures to participate.  Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8 

• Talk to STXBP1 about Natural History Studies.  This is something we need to think about together.  e.g. a consensus protocol could save us a placebo arm.

PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/ 

Ed's been busy! 

Cafe Syngap Episode 8 went live

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

Conference Family Day Recap by Paulina Polanco

https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/

Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube

https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD

Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view

CHOP/ENDD (need 50 more)

https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view

Newsletter #36 out Saturday AM Jan 6 

https://mailchi.mp/syngapresearchfund.org/2023recap

Resolutions for 2024

https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit

Attend a conference or two (pre-register for Los Angeles)

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)

Upcoming

• Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT

• Rare Disease Day - join us in DC; two blog posts:

What is Rare Disease Day & why is it the last day in February?

https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/

You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/

Sign up for the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024

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

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67.  Here is the data:

https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data

Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment.  Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week!  (But it's never linear.)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate

Guess what the first pub in 2024 is about, CBD!

https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857

This reminds me of a crazy story I heard this week, I need to share:

• Dr. won't add Clobazam

• Dr. pulled rec for CHOP with silly argument, Why he was wrong:

• QEEG is different

• Experts are experts and too few

• IRB approved studies gather data in a consistent way and help identify endpoints.

Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/

Tony Update, 10 tomorrow.

• It's been a rough year

• MVSD has failed spectacularly

• All the schools are full and the one that wanted to grow, can't.

Sign up for the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ (edited) 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024

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

1. NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2. GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3. GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4. USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5. USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6. Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ 

Research Matters:

• Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!

• 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate 

Fundraising - Let’s get to $2M!

• Give Up Your Cup - https://Syngap.Fund/GUYC23

• Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper 

Reminder on resources:

• Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/

• Tell your Warrior Story - Deanna@curesyngap1.org

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

• New Sibling Page - https://curesyngap1.org/syngap-siblings/

Great Press Lately -

• Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/

• Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/

• More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/

• Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html 

Pods to catch up on!Cafe Syngap1 Episode 7 is live!

https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895 

The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023

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

12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/

9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx

9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html

10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/

12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx

12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/

Dream Team

https://www.linkedin.com/in/nashafitter/

https://www.linkedin.com/in/faridvij/

https://www.linkedin.com/in/elli-brimble-82774798/

https://www.linkedin.com/in/deven-mcgraw-6650285/

Hope for Harper is still going, help us meet the $15k match!

https://syngap.fund/harper 

https://givebutter.com/uNxleH

The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023

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

Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org 

Finances, we have two years of audited financials on https://curesyngap1.org/finances/ 

There are two reviews of the SYNGAP1 Conference and one of AES you need to read

 S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ 

 S1 https://www.draccon.com/dracaena-report/syngap2023  

 AES https://www.draccon.com/dracaena-report/aes2023  

End of year Giving is afoot!

 Give up your cup https://givebutter.com/Iuwfzd  

 Albrecht Match https://givebutter.com/uNxleH  aka Syngap.Fund/Harper

 General Giving https://curesyngap1.org/donate/ 

Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca 

Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date!

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023

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

https://x.com/cureSYNGAP1/status/1730629792137883800

Adult paper and study

https://x.com/AledoNeuro/status/1726206128390848604

AES - Lots of SYNGAP1 incl paper with ciitizen data

https://x.com/JillianLMcKee/status/1731420167672942878

RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers

 - Chow https://x.com/CNSdrughunter/status/1730233903602872424

 - VUS https://x.com/CNSdrughunter/status/1730268276989571512

 - Genetic Therapies https://x.com/dretico/status/1730298959824875741

FD23 - 60 Families from 16 Countries.  Awesome leadership.

Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca 

Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023

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

Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23

#SyngapConf https://Syngap.Fund/RT23

To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando!

FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018

Bravo to Jess Johnson & EAN

https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/ 

Amazing paper out from USC

https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/ 

Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023

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

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz

3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753

EEGS MATTER

To get an EEG Biomarker, you need to collect EEGs.  Not simple.

This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)

https://www.sciencedirect.com/science/article/pii/S2667174321000380

Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1

SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)

Where’s our paper?

Beacon Biosignals is a company we know: https://beacon.bio/

You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.

https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html 

EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony’s

https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023

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