Healthcare9 min reading time
Using AI to help physicians diagnose rare genetic diseases affecting children
Open AI News
Read full postResearchers from Boston Children’s Hospital, Harvard, and OpenAI used the OpenAI o3 Deep Research model to analyze 376 unsolved rare disease cases, identifying candidate diagnoses in 18 cases after expert review and further testing. This AI-assisted workflow improved diagnostic yield by 4.8%, demonstrating potential for scalable reanalysis of difficult genetic cases as scientific knowledge evolves.



