CURE SYNGAP1 PODCAST aka SYNGAP10

Saturday, January 10, 2026 - Week 2

Here are key talking points to reference when talking about SRD.   Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing 

SOCIAL MATTERS

4,546 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

1,500 YouTube.  https://www.youtube.com/@CureSYNGAP1   

11.2k Twitter https://twitter.com/cureSYNGAP1 

45k Insta https://www.instagram.com/curesyngap1/ 

$CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP...

Friday, January 9, 2026 - Week 2

Big news in SYNGAP-land, Becky Quick and Matt Quayle have a beautiful SynGAPian named Kaylie & they are launching CNBC Cures!

- Wonderful to have more awareness of SYNGAP1, I hope it leads to more diagnoses.

- My two favorite quotes from the episode and podcast: “There is no Mission without Money”-BQ & “She has reset our whole life plan…one day I’m going to be gone and is Kaylie going to be ok?”-MQ

- Here is our page with all the links! https://www.linkedin...

Friday, January 2, 2026 - Week 1

#SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/

From the Cantor Report on CAMP4 

The Stockdale Paradox. The best way to succinctly describe CAMP4 and the parties driving progress in this field (Cure SYNGAP1, families, researchers) is, for anyone familiar with Jim Collins' book "Good to Great," they have fully embraced the "Stockdale Paradox": To succeed in difficult circumstances you must 1) confront the brutal facts (severity of the disorder, devastating

impact on patients and families, lack of treatment) while 2) maintaining unw...

Saturday, December 20, 2025 - Five days till Christmas, 11 days left to raise funds to CURE SYNGAP1

AES was exceptional in many ways, here are a few:

#CyberMonday, December 1, 2025. Week 49.

Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy.

Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t&

Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158 

Amazon: ​​https://a.co/d/imfxmwG 

See you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

SOCIAL MATTERS

4,474 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

1,480 YouTube.  https://www.youtube.com/@CureSYN...

Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

Continued from #S10e189…

And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/

https://curesyngap1.org/blog/

Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead

https://curesyngap1.org/resources/webinars/ 119 - 112

Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.

https://curesyngap1.o...

Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin.  Check them out, screen for both.  See what you can do!

Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet! 

MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo 

Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX 

ProMMiS - Meet committed clinicians, get great care and build the future of...

Sunday, November 9, 2025. Week 46.

End of year campaign: UNLOCK THEIR TOMORROW, curesyngap1.org/unlock   

Why now? UNLOCK It’s giving season. Count our blessings and share what we have.  CS1 has moved mountains this year: Staff, ProMMiS, etc. But we are just starting…

Every single family should give and should solicit their friends.  Yes, it’s a tough time.  Yes, people have other causes.  No (most of) your friends don’t have a SynGAPian.

Miss 100% of the shots you don’t take.  And remember, donors learn about what they give...

Saturday, October 25, 2025. Week 43.

Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/

PUBMED at 47, and low. Clinical research!

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

- CHOP EEG ProMMiS ​​https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed

- COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063

Doing surveys...

Friday, October 3, 2025. Week 40.

#SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/

Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/

Sign up for Citizen Health

https://www.citizen.health/partners/srf

CC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_syngap1-dee-raredisease-activity-7378823288950575105-YjP3

Rhymes with recent publication from Dr. Perry on Dravet

https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118

Citizen AI Advocate avail. for SYNGAP...

Wednesday, October 1st, 2025. Week 40.

SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht.  Our code is F78.A1

Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/

Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg

Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13

Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed

W...

Friday, September 26, 2025. Week 39.

In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.

DSC has announced!

DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)

Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia

In addition to that, the DSC was formally announced, and wil...

Friday, September 26, 2025. Week 39.

DSC has announced!

DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)

Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M
#RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia

In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map.  This was because of an SRF grant years ago!  Grant https://curesyngap1.org...

Friday, September 26, 2025. Week 39.

In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & Wedbush

William Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.”

Wedbush

Ph1/2 Will Likely Begin From Ex-U.S., Aiming fo...

Wednesday, September 10, 2025. Week 37.

CAMP4 Press Release: 

https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR

Let me tell you a story:

Sunday, September 7, 2025. Week 37.

Why does CURE SYNGAP1 aka SRF matter?  Do PAGS make a difference?

Heck yes.

Because you VOLUNTEER 

Join us: https://curesyngap1.org/volu...

Friday, August 29th, 2025. Week 35.

5th Annual Gala was a great success! cureSYNGAP1.org/Gala5

Sad to miss it?  Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets.

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA!  Hi Dr. Knowles!
We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM

#Bex...

Friday, August 22nd, 2025. Week 34.

The 5th Annual Gala is happening now! 

https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ

cureSYNGAP1.org/Gala5

Sad to miss it?  Join us in Boston or South Carolina.

Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25

Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble

Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!

https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results
12 Aug...

Tony (11, M) Story.  Now we sleep with the alarm on every night.

Elopement: 

Virginie (10, M) Stories and Service Dog.

Single Mom (9, M) heading to the judge and calls me asking for papers.  Here you go…

Let’s note that Elopement was masked behind broader buckets and I think this is a miss.  We need to name and discuss...

Friday, August 8th, 2025. Week 32.

CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.

Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.

DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/ 

My comments at the 2024 Conference:

curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/ 

PRESS

Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX 

 <...

Wed July 30, 2025

Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.

See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/

Action: If your kid has motor seizures, fill out the screener and join this amazing study.

Link here: https://www.resiliencestudies.com/emerald

A motor seizure is a seizure where you can see something moving – inclu...

July 16, 2025. Week 29.

We care because we haven’t done this before, heal those born with disease.

Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.

⁠NHS are critical for clinical trial design.  Size and Quality matter.  Validated scales are better than PR...

July 7, 2025 Week 28

ADAMS CAMP

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

CENSUS & WHY WE WILL SEE MORE PATIENTS

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

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

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

https://curesyngap1.org/census/

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

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

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

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

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

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

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

Sunday May 18, 2025. Week 21

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

CAMP4

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

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

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

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

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

CHOP - Email...

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...

Friday, April 25, 2025 - DNA Day

Good luck at Sprint tomorrow.  $194k at this moment.

WODC Readout

Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)

RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar.

(Other  Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)

Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narr...

Tuesday, April 15, 2025 – Week 16

CURRENT NEWS

#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! 

Board Announcement: https://www.eurekalert.org/news-releases/1080490

LEARNING ABOUT SYNGAP1

ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.

Also, learn from Dr. Kno...

Wednesday, April 9, 2025 – Week 15

Condolences to the Brimsek family and thank you John & Tobi for all your support.  We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories 

Trip Report, two crazy days.  Many takeaways.  Trials may be coming soon.  If there is a trail, sign up.  Every time. khuba@jcu.edu 

Do the Frazier Study and do the follow-ups!  https://curesyngap1.org/eye2 Global as well.  Australia, UK, Canada, please help.

We are busy too!  DiMe announ...

Wednesday, March 26, 2025 – Week 13

#S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever.  Don’t miss it, or the comments.  Feel free to add to them!

One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia.  Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8

Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal

PR36 for GI me...

Tuesday, March 18, 2025 - Week 12

Please give my video a watch and SAVE MEDICAID!   Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing.   For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work toge...

Tuesday, March 11, 2025 - Week 11

CHCO Press Release

https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org

SYNGAP1 ProMMiS #SynGAProMMiS

https://curesyngap1.org/resources/studies/syngap1-prommis/

Need your Voice on Unmet Need

Please contact me with stories and permission to share. Mike@ 

PubMed is at 11 YTD

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

Friday, February 28, 2025 - Week 9

Hope vs. Despair?

Despair:

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

Ho...

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

Tuesday, February 25, 2025 - Week 9

ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week

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

SPRINT4SYNGAP - April 26, 2025

Webinar: cureSYNGAP1.org/S4S25

Guide: cureSYNGAP1.org/S4SGuide

LEVERAGE ON OUR GRANTS

#Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source...

Tuesday, February 11, 2025 - Week 7

IMPACT REPORT IS OUT!

Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/

Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/

STUDIES OF THE WEEK - BEACON DREEM

https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

COLORADO CHILDREN'S HOSPITAL - April & May

https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/

STANFORD ARTICLE ON SYNGAP1 SEIZURES

https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/ 

Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175 

LinkedIn: https://www.linked...

Tuesday, February 4, 2025 - Week 6

CONVO - Parent of 18 year old

STUDIES OF THE WEEK - FRAZIER

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

Don’t underestimate this tool, please take part in this study.

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

ADVOCACY SH...

Tuesday, January 28, 2025 - Week 5

STUDIES OF THE WEEK - ROCHESTER 3

We need 3 more 0-2 Year olds.

https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/

NYU - CureSYNGAP1.org/NYU

https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/

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

STUDY HUDDLE on THURSDAY!

1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU

COMPANY OF THE WEEK - Minovacca

...

RESEARCH UPDATE

There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 2 for 2025.

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

Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246!

Check out these social posts on our https://cureSYNGAP1.org/SRFPaper 

STUDIES AND TRIALS ARE HAPPENING NOW
https://docs...

Friday, January 10, 2025

NEWS

AES

JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no...

Tuesday, December 17, 2024

Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Summary: http://www.draccon.com/dracaena-report/2024aes

A few comments:

Tuesday, November 26, 2024

Annie Passed yesterday #SynGAPAngel 

https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop 

SRF NEWS

Two trials to consider

Two studies we all need to sign up for<...

Friday, November 15, 2024

SRF NEWS

STUDIES AND A TRIAL

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

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

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

Science:

Conference - Conference is 1 month away!

Tuesday, October 22, 2024

First Principles

Our job

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

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

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

 - UFD Tech, $52,094

 - Scramble, $28,000

 Current Efforts:

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

   - Missense Account of the Fund $23,684

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

   - Charmander $10,585

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
  - Emmy $8,173

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

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

📝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 

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

FRAZIER STUDY

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

SRD JOINS CFC #33321

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

PRESS ABOUT FOF (Friends of the Fund)

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

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

RESEARCH UPDATE

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

https://p...

📝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...

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

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

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

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

ADULT ADVOCACY

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

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

WaPo Article: https...

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

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

Newsletter #39 - syngap.fund/NL39 

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

Cafe Syngap16

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

Zempleni Grant

https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

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

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

📝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:

...

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

CENSUS = 1,454 

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

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

FUNDRAISING

Missense Account of the Fund

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

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

Emmy 

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

YOU?

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

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

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

GRANTS APPROVED

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

FUNDRAISING

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

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

...

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

BIG NHS UPDATE

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

Colorado should start seeing patients in August!

WHERE TO DONATE

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

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

TIME TO JOIN #TEAMSRF

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

JOIN SRF LT on Thursday:

Volunteer Info session with Leadership Team is this week: 

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

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

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

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

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

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

 - This week I...

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

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

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

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

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

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

 - $243k, 844 donors

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

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

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

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

TOGETHER WE ARE STRONGER

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

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

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

WELCOME AND CONNECT

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

 - Connect, connect, connect.

  - San Diego nex...

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

Stoke Therapeutics #StokedAboutStoke

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

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

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

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

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

Studi...

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

Two killer publications:

Boston -

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

Penn/ENDD - 

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

Email Info at CureSYNGAP1 dot org for PDFs!

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

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

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

DC was epic, come next year!

- Board Meeting and Leadership Team.

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

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

- Last week of Feb, don’t miss it.

#RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10

Reflecting on the latest Rick Huganir paper

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

#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...

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611 

B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)

C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)

D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability

E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)

F. SYNGAP1 Related-ID - ICD-10 & Hopkins
 - https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
 - h...

TWO Gene therapy INDs approved in the past week!

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/upda...

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing.    #S10e131

Three patient stories… with the same conclusion, we don’t know enough about this disease.  

- 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...

All week on an article (coming soon), but still time to…

PubMed count is up to 2 for 2024, now a story from China...

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...

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128

A few studies to make sure you are in over the holidays!  One brand new!

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...

Today a SYNGAP1 patient was dosed with 4PB.  Thank you Dr. Grinspan!

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 Giv...

ICD-11 = LD90.Y #LD90Y

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.

 <...

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

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...

Three Todos:

1 - Come to the #SRFconf and be sure to buy dinner tickets!

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 EEG...

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier 

We need endpoints and assessment tools.  We can help make it happen with this study.  Let’s get to 100 participants.  

#SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html 

How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link

Two papers already!!

Develo...

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”

Types of mutations

https://youtu.be/xYOK-yzUWSI 

SYNGAP1 on Alphafold

https://alphafold.ebi.ac.uk/entry/F6SEU4 

Dr. Underbake on Disordered/Unstructured Proteins

https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 

Common Missense

https://www.syngapresearc...

#SyngapConf Conference Agenda Announced!

https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 

Register for the Conference!

37 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

Dinner is Separate - Join us!

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner 

Nancy is a gem

https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler 

Gala was a huge success

https://www.syngapresearchfund.org/families/caren-l...

My trip summary to CHOP.

Melissa and her family are remarkable. “Doing this for the next generation.”

Why are we afraid to hope?  Because fear is winning.  Everything comes from Fear or Love.  Focus on the love.  Feed that one.

https://www.demellospirituality.com/love-or-fear/

https://www.urbanbalance.com/the-story-of-two-wolves/ 

#UFDCure Cannonball - October 4-6

$128,075.83 so far at 83.6%

https://www.youtube.com/watch?v=ilnPIwVy6oY 

https://www.syngapresearchfund.org/cannonball
https://x.com/UFDTech/status/1711488218636357818?s=20 

Sc...

#SyngapCensus

https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297

#UFDCure Cannonball - October 4-6

https://www.syngapresearchfund.org/cannonball

Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure

Pre-party https://x.com/UFDTech/status/1709366677261987862

Scramble - October 7, 2023

Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019

Site

https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund

PRAX-222 & ciitizen

Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg

Pressers

9/20 https://ww...

CALLS TO ACTION

Great papers

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

https://x.com/cureSYNGAP1/status/1706770818703953955

Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism model...

Congrats to…
- Allan Blake on his airborne fundraiser for SRF UK
- Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes)
- Beacon on their FDA approval on the Sleep Headband Dream 3S
- Soiree 8/26 - $300K net raised by Suzanne 

 - Katrien on the ILAE #SYNGAP10 #S10e115 

Webinar coming up:

  Behaviour, Cognition and Sensory Processing in People with SYNGAP1

  Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg

  Sept 28 @ 9am PT/ 5pm GMT

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson 

Dr. Eschermann's Slides  https://www.patre.info/2023/09/04/presentation-at-iec-2023/

EURAS Project Press Release https://euras-project.eu/

Register for the SRF Conference, it’s going to be fabulous.
- Registration link: https://Syngap.Fund/Orlando  

 - Hotels ASAP: https://Syngap.Fund/2023hotel  

 - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF!

 - https://www.syngapresearchfund.org/volunteer-with-syngap...

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 

Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818

 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687

 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525

CHOP...

Super Heroine: Vicky Arteaga

Fondo Syngap is tireless:

- 2 Congreso en Español on September 23, 2023

https://www.syngapresearchfund.org/professionals/2023-en-espanol

Spanish Podcast #CafeSyngap1e01 

- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg

- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw 

- Spotify https://spotify.link/MJZZVMoKGCb 

- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 

#Fondo...

Congratulations to Dr. Knowles, read our press release.

https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy 

Check out the CSC Clinic at Stanford

https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 

Don’t miss #S10e111 to learn about Dr. Helbig

https://www.youtube.com/watch?v=i6EZUrqsn2g 

In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian

https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf 

Congratulations to Dr. Kadam for the SR...

*Note, we aware part of the video froze; that’s life! 

RESEARCH!

- Dr. Helbig gave a killer presentation today… at Stanford.  It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS.  We need them all.  Sign up for Ciitizen!  https://www.ciitizen.com/SYNGAP1/

- SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf

- Grants due on 9/1, already se...

Adam's Camp: Get on the mailing list! https://adamscamp.org/

Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing

Compression Clothing https://calmcare.com/

Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg

—

CONFERENCE 

Registration link: https://Syngap.Fund/Orlando  

Hotels ASAP: https://Syngap.Fund/2023hotel 

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast...

Guest Hosts: Ashley Frye & Lauren Perry

THE BASICS

Who: Everyone! Families (including extended), caregivers, scientists, industry reps. 

What: SRF’s 2nd Annual SYNGAP1 Conference. 

- Registration link: Syngap.Fund/2023ConfReg

Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center. 

- Room block:  https://Syngap.Fund/2023hotel

When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that. 

Why: Once in a year opportunity to be in the same roo...

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf 

FASTERCURES

See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo 

https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train 

Census https://Syngap.fund/census - 1,238

CHOP

McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw 

NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf 

What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study 

Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-a...

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

RECENT EVENTS

MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration

Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU

Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing

Family Video and Fundraiser:

Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM

Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday

SRF in the...

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.

SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead!

Stats: They had 12 teams play in the tournament.  About 120 people joined the crawfish boil.  Actual $ breakdown: Total Actual Income $23,250.00.

Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 

Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3s...

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

This is the ENDD of excuses.  Sign up for the CHOP ENDD Study.

There is so much work to do, volunteer Info@SyngapResearchFund.org...

Long trip, but first…

Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event
$243,794 of $250,000, 849 Donors

Grand Total: $241,359 – Incredible! Congratulations to all the teams. 

In-Person Events: 

Team Tavilla raised $162,464…and counting

Hope for Hadley raised $10,059… and counting

Team Syngap America Latina raised over $2,000

Canada - Team Mya raised over $2800 & Team Chase raised over $2300 

Team Andrew raised over $3,200

Team Emma Mae raised over $3,000 

Team Kai raised over $2,600

Team Gracyn raised $1,864

Team Naya raised $1,795 

Team Patrick raised $1,240

Kilometers4Kai raised $952

March4McKaela raised $550 

Online Fundraisers: 

Phoebe’s...

Webinars

McKEE 4/27 https://syngap.fund/mckee
  - Ciitizen SYNGAP1 count is over 212

     - Sign-UP https://ciitizen.com/syngap1 

     - Sign-IN & Update https://app.ciitizen.com/  

SMITH 5/11 https://syngap.fund/smith
LACOSTE 5/18 https://syngap.fund/lacoste

#Sprint4Syngap - 4 days, April 29, 2023

- $210k, 652 donors.

- https://syngap.fund/sprint 

- Fundraising page: https://syngap.fund/sprint23

What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368

Caregiver Connect from DSF

Video modules...

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions…   #S10e101

What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368

Congrats to Dr. Frazier on the FIRST NET paper:  https://twitter.com/cureSYNGAP1/status/1646573476353044481 

Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097

Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles...

How is the podcast doing?

- Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k 

- Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!

What you can do this week?

- Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.

- Tell me if you have any GI biopsies planned.

- Plan your travel

- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9l...

Watch the COMBINEDBrain / TJB Webinar!

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

Frogs are cool

https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/
See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ 

#SYNGAPcensus is at 1,251

https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 

SYNGAP is HOT

https://www.youtube.com/watch?v=X4iDyHc4xUA 

#Sprint4Syngap - 28 days, April 29, 2023

- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund  

- Fundraising page: https://s...

Milken Fastercures RPMM

- So much strong work and thinking here!

https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM 

- Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi 

- Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 

Why we need a house?

www.fpwr.org - www.jdrf.org - www.runx1-fpd.org 

Press is key!  Congrats to Peggy

https://www.newsandtribune.com/news/cl...

Community with families

- Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl 

- Hattie and Tony at the pool with the Fosters

-  Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/  

-  Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/  

-  2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ 

-  Throw them in occasionally.

Talking to 2 year olds

- LA, Nor...