Never doubt that a small group of thoughtful, committed citizens can change the world; indeed, it's the only thing that ever has. - Margaret Mead

September 2, 2021

Dear Friend of SRF,

I just finished today's incredible webinar by Dr. Mingorance, if you missed it watch it here.

We are making great progress.

A year ago we launched a digital natural history study for SYNGAP1 in close partnership with ciitizen.  As of today, we have collected almost 20,000 medical records for 118 patients.  This is a significant achievement.  That data is now de-identified, reviewed and standardized into codes so that researchers can easily learn more about our disease.  Episode 24 of SYNGAP10 -- the weekly 10 minute update for families -- emphasized that every family can join this effort and share their data to accelerate research & the development of therapies; indeed we all should. Sign up at ciitizen.com/SYNGAP1

Congratulations to Ciitizen for their recent feature on CBS, partnership with Rare-X and dHealth approval by AHIMA “for its commitment to protecting personal health data.”  We chose Ciitizen because of their genuine commitment to patient privacy and their technical skills, this award affirms what we have been saying for over a year: they are a strong partner who have earned our trust.

In addition, the ICD-10 code that we have worked so hard for has been approved by the CDC and goes effective on October 1st.  Make sure all of the medical professionals who care for your loved one include the code F78.A1 in the record and on their billing, every time.  This code will help the SYNGAP community as we mark towards therapies for our patients.

We continue to raise funds for the Clinical Trial Readiness (CTR) on the page and via the upcoming Caren Leib Gala.  Below you can learn about family meetups, a new publication, a new Spanish language family video, and multiple industry podcasts that have featured SRF & SYNGAP1.  Please keep up with us via the weekly 10-minute podcast, SYNGAP10.

There is more work to do, if you, a family or friend have time to help, please let us know.

Time is brain,

Mike

Tony's Dad & Managing Director of SRF 

 

You are invited to the 1st Annual Caren Leib Gala
October 23, 2021
Bridgewater, New Jersey

Tickets & sponsorship: syngap.fund/clg

 

SRF featured in three Industry Podcasts

Thank you to Patient Worthy for sharing the SYNGAP1 story on their Podcast.

This is a great listen for an overview of SRF & our work.

We were lucky to share the stage with Dawn Blessing from Zogenix as we discuss the future of Rare Disease.  This is a very rich discussion.

Mike & Nasha discuss what's essential for starting a RD group.

 

Fondo Syngap Intro.

Fondo de Investigacion SynGAP (our sister organization in Latin America) produced this fantastic new short movie - "Conociendo a la Familia Gómez." 

 

Are we ready for clinical trials?

The Clinical Trial Readiness project is designed to make sure that when therapies are ready for our loved ones, that our data is organized, EEGs are understood, biomarkers identified.  We are raising funds for this important work that will benefit all our patients.  We need your support.

Facebook Fundraisers for SRF Merch! 

SRF is very grateful for Facebook birthday fundraisers! Anyone who creates a Facebook fundraiser and raises $250+ will receive a $25 gift card to the SRF store for swag/merch! 

Start your fundraiser now: syngap.fund/fbfun

Ironman fundraiser $1801 raised! 

Aaron & Monica Harding are powerful advocates for SYNGAP1.  We are lucky to have Aaron on our Board. 

CONGRATULATIONS for your Ironman which raised almost $2k! 140.6 miles consisting of 2.4 mile swim, 112 mile bike and 26.2 mile run in 100 degree heat to top it off.

 

Congratulations to Drs Llamosas & Rumbaugh

SRF supported the training of Dr. Llamosas in Dr. Rumbaugh's Lab at Scripps in one of our first grants.  She was the first author on a recent publication in PNASSyngap1 regulates experience-dependent cortical ensemble plasticity by promoting in vivo excitatory synapse strengthening.  

Congratulations to all the authors and thank you for advancing SYNGAP1 Research.  We are already looking forward to a family webinar to help us unpack this paper.

 

SYNGAP1 Digital Natural History Study with ciitizen

It's been an eventful month for Ciitizen

  • Syngap families discussed Ciitizen in a panel discussion. See it here.
  • Ciitizen was profiled on CBS This Morning. Did you catch it?
  • Rare-X is partnering with Ciitizen.
  • Ciitizen earned a dHealth designation from AHIMA for their "commitment to protecting personal health data."
  • Ciitizen Cohort 3 - There are some spots left. Families, sign up ciitizen.com/SYNGAP1
 

Excellent Webinar: Watch now

Dr. Ana Mingorance is the Chief Development Officer of the Loulou Foundation and an independent consultant in genetic epilepsy syndromes and orphan drug development through Dracaena Consulting. Just today she spoke about her research into current treatments in development for epilepsy syndromes and what opportunities are available for SYNGAP1. This is webinar is essential watching for all families.

 

FAMILY CONNECTIONS

Connection is everything! It is wonderful to see Syngap families getting together.

Jersey Shore hosted five families

Read newspaper coverage

Three families met at the beach in San Diego

Two families gathered in San Diego

 

 

Three familes traveled and met in Coeur d'Alene 

 

Two families met in Half Moon Bay

 

Celebrating Caren is garnering accolades

Congratulations to Celebrating Caren for the three awards is recently won!

Official Selection

 

We have 128 Warriors on the SRF site

Families, submit your story here to make sure you warrior is included.

 

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 progress? Subscribe to the SYNGAP10 podcast on Google, Apple, Spotify, Amazon, Stitcher, etc. Let us keep you up to date. We are twenty-four (24) episodes in! Watch or listen!

100% OF YOUR FUNDS GO TO RESEARCH.

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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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