SynGAP10 weekly 10 minute updates on SYNGAP1

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

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

Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137
#137
Last Tuesday at 5:20 PM

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

 

Stoke Therapeutics #StokedAboutStoke

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

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

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

 

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

 

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

 

Studi...


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

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

 

Two killer publications:

Boston -

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

Penn/ENDD - 

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

Email Info at CureSYNGAP1 dot org for PDFs!

 

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

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

 

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


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

DC was epic, come next year!

- Board Meeting and Leadership Team.

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

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

- Last week of Feb, don’t miss it.

 

#RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10

 

Reflecting on the latest Rick Huganir paper

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


A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134
#134
02/24/2024

#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...


What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called?  #S10e133
#133
02/14/2024

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...


Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132
#132
02/07/2024

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
#131
01/23/2024

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...


2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130
#130
01/13/2024

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

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...


Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129
#129
01/05/2024

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
#128
12/23/2023

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!

NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for...