Show notes
Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene.
Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1.
Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine.
On This Episode We Discuss:
Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey
Elli’s role as a genetic counselor in diagnosing SYNGAP
How SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency)
Sleep issues associated with SYNGAP and other symptoms
The prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the condition
Labs and organizations that have been helpful in supporting the SYNGAP community
Connecting with fellow parents/caregivers who have kids with SYNGAP
The status of SYNGAP1 research and potential treatments
Mike’s podcast, SYNGAP10
You can learn more about Mike’s family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram.
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