Post by Boston Children's Hospital

For families living with an undiagnosed rare disease, a diagnosis can bring answers, closure, and a sense of connection. Yet nearly half of rare disease cases remain unsolved, leaving researchers and families searching for answers for years. A new study published in NEJM AI explores how AI tools can help accelerate the diagnostic odyssey. Researchers from Boston Children’s Hospital’s Manton Center for Orphan Disease Research and OpenAI used the OpenAI o3 Deep Research reasoning model to analyze de-identified clinical and genomic information from 376 previously investigated cases that had remained unsolved. In this NBC News article, Dr. Catherine Brownstein discusses how AI can help researchers save time, improve efficiency, and potentially bring answers to more families affected by rare diseases. Read more ⤵️