Syngap is gaining interest with astute researchers around the world, because:
Surprisingly common - Syngap is the 2nd most common single-gene determinant of autism (Michaud research) so the current patient population meaningfully under-represents totals;
Targetable mutations - Most mutations are targetable through ASOs and Syngap has favourable binding properties;
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);
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);
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;
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
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.
From some Syngap parents: https://medium.com/@syngapfund/syngap-patient-neurology-paper-five-things-parents-need-to-know-7910e6b95ce2