SynGAP Research

Registry
0

Syngap is gaining interest with astute researchers around the world, because:

  1. Surprisingly common - Syngap is the 2nd most common single-gene determinant of autism (Michaud research) so the current patient population meaningfully under-represents totals;
  2. Targetable mutations - Most mutations are targetable through ASOs and Syngap has favourable binding properties;      
  3. Haploinsufficient - It is a haploinsufficiency so insights on SynGAP may help identify insights on other haploinsuffiiciencies (or insights from other haploinsufficiencies could aid SynGAP research (i.e., Dravet);
  4. Syngap is a severe childhood epilepsy - It is severe so societal consequences / funding to reduce societal consequences should be high (especially in single payer systems);      
  5. Cracking Syngap will have impacts beyond the Syngap community  -  Syngap absorption and production is related to schizophrenia, Alzheimer’s, dementia and many other neurological conditions, insights here could help broader populations;
  6. Established infrastructure - The infrastructure for successful clinical trials either exist or are being established for Syngap, biomarkers and natural history study including access to a network of engaged clinicians and patients
  7. We are a well-organized & passionate community who would do  anything to help our kids.

Major Syngap publications:

Read about how the Syngap research published in the Neurology journal began, with a few Syngap parents working together.

Syngap mutation information:

Syngap Global Network Research Roadmap

The families involved in Syngap Global Network have collaborated to develop a Syngap Research Roadmap to ensure our resources are aligned, focused, coordinated and not duplicated.

01 Syngap slide.PNG

02 Syngap Slide.PNG

03+Syngap.jpg


0
© Copyright  2018-2021 Syngap Research Fund  | All Rights Reserved | 
Privacy Policy