...so many things are possible just as long as you don’t know they’re impossible.  –  The Phantom Tollbooth.

July 1, 2021

Dear Friend of SRF,

Today we released the latest #SYNGAPcensus with a global count of 808.  There are so many SYNGAP1 patients diagnosed and even more to be found.  We are working daily for our kids and for all the patients who haven't even been diagnosed yet. 

Learn about our work in this newsletter, and then join in a way that excites you.  Everyone is welcome. 

  • We are fundraising for an ambitious grant, start a team or donate here: Syngap.Fund/CTR
  • There are two (2) important SRF Webinars coming up, sign up: Syngap.Fund/Webinar
  • The #SYNGAP10 10 minute podcast is going well, subscribe: Syngap.Fund/10

Thank you for your part in this incredible community. If you have questions or want to do more, please reach out. Here are a few simple things you can do online to start.

Time is brain,

Mike

Tony's Dad & Managing Director of SRF 

 

Learn about & support SRF's Upcoming Grants

SRF is fundraising for two exciting new grants to further SYNGAP1 research.  Learn about both here.

Developmental Synaptopathies Consortium (DSC) EEG Biomarker Data Collection 

  • This grant collects EEG data on 20 Syngapians to identify SYNGAP1 EEG biomarkers.
  • A biomarker helps determine if a treatment works.

Boston Children's Hospital SYNGAP1 Team

  • This grant will analyze the DSC grant's EEG data to find biomarkers, 
  • Create a natural history of epilepsy in SYNGAP1 patients using Ciitizen data, 
  • Develop a deeper understanding of SYNGAP1 and the development of patients' symptoms.
 

Two Exciting Research Awards for SYNGAP1

Congrats to UC Davis MIND Institute! The RDM Positive Impact Foundation is funding an ambitious $1.25 million research project to study SYNGAP1. We look forward to working with them to help as many SYNGAP1 patients as possible. 

SRF awarded a $130,000 grant to Marcelo Coba Laboratory to study SYNGAP1. The funding will enable the team to develop a first-of-its-kind understanding of SYNGAP1 by characterizing and profiling the function of patient-derived cells. 

 

SYNGAP1 to Get Its Own ICD-10 Code

F78.A1 is SYNGAP1's ICD-10 code, effective October 1st, 2021! Thank you to our very own Dr. Hans Schlecht for making this happen. This code can help find other SYNGAP1 patients, help characterize SYNGAP1 and its symptoms, insurance reimbursement, surveillance & research.

 

New SYNGAP1 Study at KKI

Dr. Smith-Hicks, a member of the SRF Scientific Advisory Board, of John Hopkins Medicine is recruiting SYNGAP1 parents to participate in a Quality of Life Questionnaire.

This is an important study for helping regulators and the FDA understand the impact of our disease.

Please contact the emails below to be interviewed about your child:

 

SRF Partnering With The 40%

The 40% is a new nonprofit organization who is helping solve the issue of funding for research for rare disease organizations. The name comes from the insight that 40% of our society is touched by Rare Disease. We are happy to collaborate with them!

 

Two Annual SYNGAP1 Events done in 2021, but save the date for next year!

On April 24th, for #Sprint4SynGAP, 29 teams, 78 registered participants and over 900 donors raised $124,664! Thank you to all those families and to NFL player Henry Anderson for helping raise SYNGAP1 awareness! Save the date for next year: Saturday, April 30, 2022.

On June 21st, we celebrated #Splash4Syngap and shared our SYNGAP1 loved ones with the community and with this flyer.  We will do it again next year on June 21st. Plan a pool party!

 

The Million Dollar Bike Ride was held on June 12th to raise funds for SYNGAP1 and other rare disease research. Great job to everyone who donated, raised money and rode. We love the SRF bike gear!  All funds raised were contributed to the Clinical Trial Readiness Grants.

 

Happy 65th Birthday to Caren!

Caren is the oldest known Syngap patient in the U.S.  She turned 65 in May.  We are all so happy to see a SYNGAPian living a long life -- bringing joy to her family & our community.  Make sure to watch the short movie SRF produced about her life and share with your community: Syngap.Fund/Caren.

 

Interview With Ashley Evans, SRF Co-Founder

Watch the Kayo Conference Series interview with SRF co-founder Ashley Evans:

 

Families: Two must see webinars coming up

Dr. Frazier will talk about his SRF funded work creating online measures for SYNGAP1.  This is important for families to see since he is inviting families to join this study.  If you come to any webinar, come to this one.

 Dr. Palma gave an exceptional presentation at the Congreso Cientifico about interpreting SYNGAP1 variants. We are lucky that he has agreed to speak again in English this time!

 

Are you subscribed to the #SYNGAP10 podcast?

You're busy. There's too much going on. How are you supposed to keep track of all this SYNGAP1 stuff? Subscribe to the SYNGAP10 podcast on Google, Apple, Spotify, etc. Let us keep you up to date. We are sixteen (16) episodes in! The six most recent episodes are below.

 
 
 
 

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SynGAP Research Fund, 501(c)(3)
1270 Lincoln Avenue
Palo Alto, California 94301
(650) 441-4191
Info@SyngapResearchFund.org

 
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