SynGAP Research Roadmap

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.

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