• Pediatric Genomics and the Future of Rare Disease Diagnosis

  • Jan 27 2025
  • Length: 53 mins
  • Podcast

Pediatric Genomics and the Future of Rare Disease Diagnosis

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  • Summary

  • 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
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