AI Breakthrough Aids in Diagnosing 18 Children With Rare Illnesses

WHO:

NBC News - Researchers from Boston Children's Hospital’s center for rare diseases and the AI company OpenAI.

NBC News - Catherine Brownstein, scientific director of the genetic investigations arm of the Manton Center for Orphan Disease Research at Boston Children’s Hospital.

NBC News - Suyash Shringarpure, technical researcher at OpenAI focusing on health applications.

NBC News - Kyra Benton, a patient who received a diagnosis as a result of the research.

NBC News - Adam Rodman, a doctor and expert on the use of AI in medicine at Beth Israel Deaconess Medical Center.

NBC News - Chunhua Weng, a professor of bioinformatics at Columbia University.

WHAT:

NBC News - AI tools helped identify errors in patients’ genomes, leading to diagnoses for 18 children with rare diseases.

NBC News - The research analyzed several hundred genomes of patients who had not received diagnoses for their rare diseases.

NBC News - The study identified new diagnoses for 10 patients with rare neurodevelopmental diseases, 4 patients with neuromuscular disorders, 2 children who had died suddenly, and 2 patients with early childhood psychosis illnesses.

NBC News - The research yielded a diagnostic yield of almost 5%.

WHERE:

NBC News - Boston Children’s Hospital, located in Boston, Massachusetts.

NBC News - The Manton Center works with over 3,500 individuals globally and across all 50 states.

WHEN:

NBC News - The findings were announced in a publication of the New England Journal of Medicine’s AI-focused publication, NEJM AI.

NBC News - The research was conducted last year.

WHY:

NBC News - The research aimed to help identify genetic causes of diseases that had previously gone undiagnosed.

NBC News - Brownstein noted that the findings are significant for families seeking answers about their children's health.

HOW:

NBC News - The researchers ran the genomes of 376 patients through OpenAI’s o3 model, providing it with clinicians’ notes, patient symptoms, and a filtered list of genes.

NBC News - The human research team reviewed the outputs from the AI system to make final diagnoses.

(UPDATED June 19, 2026 01:56 UTC)

Researchers from Boston Children's Hospital and OpenAI have made significant strides in diagnosing rare diseases, identifying errors in the genomes of 376 patients and providing new diagnoses for 18 children. Their study, published in the New England Journal of Medicine's AI-focused publication, NEJM AI, revealed a diagnostic yield of almost 5%, uncovering conditions in patients with neurodevelopmental diseases, neuromuscular disorders, and early childhood psychosis. Catherine Brownstein, the scientific director at the Manton Center for Orphan Disease Research, emphasized the importance of these findings for families seeking answers about their children's health.