18 children had illnesses so rare doctors were stumped. AI gave them answers (opens original article in a new tab)

AI helped diagnose 18 children with rare illnesses at a Boston hospital, identifying new diagnoses for patients with conditions like neurodevelopmental diseases and neuromuscular disorders, according to a study published in NEJM AI.

• AI helped diagnose 18 children with rare illnesses at Boston Children's Hospital
• AI model identified nearly 5% of new diagnoses from 376 genomes of undiagnosed patients
• AI was used as a tool by researchers, with human review for final diagnoses
• One patient, Kyra Benton, was diagnosed with myofibrillar myopathy after years of undiagnosed symptoms