Pediatric Genomics and the Future of Rare Disease Diagnosis

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ABCs of Disability Planning

194 episodes

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Frequently families like mine don't know what's available to help us, we're too focused on getting through our day-to-day. But even if we had time, we would need to know what to look for. It's my mission to introduce a new organization or individual serving those with disabilities every week. All views and opinions represented are my own. I am not writing on behalf of Capital Motion or Visible National Trust. Neither Capital Motion nor Visible National Trust endorse or in any other way support this content and podcast. This podcast is wholly owned and operated by me, Eric Jorgensen.

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Pediatric Genomics and the Future of Rare Disease Diagnosis

ABCs of Disability Planning

53 minutes 6 seconds

9 months ago

Pediatric Genomics and the Future of Rare Disease Diagnosis

I reached out to Dr. Saquib Lakhani and his collaborator after reading about their discovery of the Jeffries-Lakhani Neurodevelopmental Syndrome (JELAN). Dr. Lakhani agreed to be my guest. This conversation is about a possible future for those born with a rare disease.

I had no idea the numbers were so high, 8 - 10% of the U.S. population has a "rare" disease. I would guess these numbers are higher. I'd like us to start testing those with Cerebral Palsy and Autism to see if some individuals may also have an undiagnosed condition.

In my perfect world, everyone will have their genes sequenced at birth. I believe gene editing will eventually help improve our healthspan, allowing us to live longer lives that we can enjoy.

Resources:

American Society of Human Genetics - https://www.ashg.org/

Yale's Pediatric Genomics Discovery Program - https://www.yalemedicine.org/departments/pediatric-genomics

Jeffries-Lakhani Neurodevelopmental Syndrome (JELANS) - https://omim.org/entry/620771