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Gene Hunting with o1-pro: Reasoning about Rare Diseases with ChatGPT Pro Grantee Dr. Catherine Brownstein

45 snips
Jan 15, 2025
Guest
Dr. Catherine Brownstein
In this engaging conversation, Dr. Catherine Brownstein, an Assistant Professor at Boston Children's Hospital and Harvard Medical School, discusses her groundbreaking work in identifying genetic causes of rare diseases. She shares how AI, particularly through her ChatGPT Pro grant, is transforming diagnostics and accelerating patient care. The dialogue uncovers the complexities of genetic testing, the emotional impacts on families, and the critical need for collective data sharing to enhance our understanding and treatment of rare diseases. Dr. Brownstein's insights illuminate the promising future of AI in medicine.
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INSIGHT

Rare Diseases: More Common Than You Think

  • Rare diseases are more common than one might think, affecting more people in the US than natural blondes.
  • The definition of "rare" is relative and evolves with increased understanding, as with autism and its genetic subtypes.
ANECDOTE

The Patient Journey to Diagnosis

  • Dr. Brownstein receives patients from around the world, often after years of seeking a diagnosis.
  • Some families, however, are medically savvy and quickly seek specialists like Dr. Brownstein.
INSIGHT

Impact of Genome Sequencing Costs

  • Genome sequencing cost reduction has made it more commonplace, changing the types of cases Dr. Brownstein sees.
  • Previously, with rarer sequencing, diagnosis rates were high (80%), but now, with more common sequencing, they are around 10%.
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