AI helped diagnose 18 children whose rare diseases had stumped doctors

FIRST ON NBC NEWSArtificial intelligenceArtificial intelligenceAI helped diagnose 18 children whose rare diseases had stumped doctorsResearchers from Boston Children’s Hospital identified 18 diagnoses for children with rare diseases using OpenAI’s o3 model. Listen to this article with a free account00:0000:00The Manton Center at Boston Children's Hospital works with over 3,500 people who are affected by rare diseases, partnering with hospitals and health centers around the world.Charles Krupa / AP fileShareAdd NBC News to GoogleJune 18, 2026, 10:00 AM EDTBy Jared PerloOver a thousand children visit Boston Children’s Hospital every day. Many get clear diagnoses and begin treatment, but a small subset of pediatric visitors with rare illnesses never get diagnoses at all. That has started to change with the help of AI.Subscribe to read this story ad-free Get unlimited access to ad-free articles and exclusive content.New research from the hospital’s center for rare diseases and the AI company OpenAI reveals that off-the-shelf AI tools can help identify which errors in patients’ genomes might be causing the children’s diseases.The findings, announced Thursday in the New England Journal of Medicine’s AI-focused publication, NEJM AI, show that OpenAI’s o3 model helped clarify 18 diagnoses for children who had struggled to find causes for their illnesses and symptoms. “It’s a total game changer,” said one of the study’s lead researchers, Catherine Brownstein, the scientific director of the genetic investigations arm of the Manton Center for Orphan Disease Research at Boston Children’s Hospital. She said the research team analyzed several hundred genomes of patients who had not received diagnoses for their rare diseases.“It got almost 5% new diagnoses, which doesn’t sound like a lot,” Brownstein acknowledged, “but considering how many times these had already been analyzed, that’s a huge number, and each one means an answer for a family.”The Manton Center works with over...