How new genomic approaches are helping diagnose and treat our tiniest patients

Welcoming a new baby brings boundless love, joy, and the usual sleepless nights of early parenthood. But in the NICU, when a newborn is unexpectedly sick, it’s the uncertainty that keep parents awake.

In this episode, our investigation takes us inside the neonatal intensive care unit, where genomic tools are mapping medical mysteries in record time. You’ll hear the remarkable story of “Baby KJ,” the first newborn to receive a personalized CRISPR treatment; insights from pediatric geneticist Dr. Tara Wenger on how new approaches to testing are changing care; and the story of Meredith Thomas– a mother whose fight for answers helped uncover a diagnosis that saved her daughter’s life.

From faster diagnoses to fairer care, join Dr. Kaylee Byers to learn how these genomic breakthroughs are redefining what’s possible for newborns and their families.

Highlights

(3:50) A study that changes the way we test ill newborns

(9:00) Meet a mother who advocated for her sick daughter

(13:56) A visit from the genetics team and a life saving diagnosis

(19:12) Making healthcare more equitable

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Resources

1. World's First Patient Treated with Personalized CRISPR Gene Editing Therapy at Children’s Hospital of Philadelphia- Children’s Hospital of Philadelphia

2. SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns- The American Journal of Human Genetics

3. Implementation of First-Line Rapid Genome Sequencing in Non–Critical Care Pediatric Wards- The Journal of Pediatrics

4. Genetic Non-Discrimination Act- The Government of Canada

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