Aaron J Harding, MS is a retired naval officer and clinical laboratory scientist professional who has a 13 year old son with SynGAP. Prior to joining the leadership of SRF, Aaron was on the board of another SynGAP organization and was a co-PI on a smaller registry.
Executive Summary: Recently, SynGAP Research Fund, Inc (SRF) connected with Simons Variation in Individuals Project — Simons VIP — to talk about what they are doing for our community, and we are excited to report back to you. There is a well funded, professionally run, world-class registry available to our community. All we have to do is join!
Good questions: What’s the catch? (There isn’t one) Are they going to sell our data? (Definitely not) How does this work? (You sign up, they do the rest). We asked all these questions. The reason for all this good news is that Simons VIP is a part of SFARI (Simons Foundation for Autism Research Initiative). SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.
According to SFARI there are 1,036 genes associated with autism. SYNGAP1 is in the top 25 genes classified as “high-confidence.” Since SynGAP is highly related to ASD, SFARI is investing in a registry of SynGAPians to better understand our disease.
The following are five reasons why the Simons VIP SynGAP1 data registry stands to advance SynGAP1 patient and therapeutic research opportunities for years to come:
Interviews are powerful. If you haven’t read our article on SYNGAP1 encephalopathies by Vlaskamp, DRM, et al. (2018), don’t miss it. The paper was the result of a research team interviewing 57 patients and identified two novel types of seizures that are specific to SynGAP. And that was with just 57 interviews — imagine what researchers could learn if we all contributed to the SVIP registry and let them call us once a year to keep it current and develop data on our kids that spanned years.
Action Step: Go join SVIP! There is loads of information as well as the option to either register or request a phone call at the bottom. As a community, we are lucky to have such a valuable resource, and we ought to use it. Thank you.
Check out this presentation from Simons VIP last year, we skipped the intro and take you right to the good stuff!