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.

We will kick off the new year with a new episode next Friday January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.

See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

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As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored)

I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David’s podcast, Papa PhD. I am a little biased, he had me as a guest back in May, “Applying to Grad School in 2022 with Kira Dineen”. He also does some episodes in French! I’ve enjoyed episodes about science communication, leadership, networking, science policy, public speaking skills, mentorship and more. Search “Papa PhD” in your podcast app to stream!