Using AI to help physicians diagnose rare genetic diseases affecting children
An OpenAI reasoning model helped researchers identify 18 new diagnoses in previously unsolved rare genetic disease cases.
OpenAI reports that researchers applied one of its reasoning models to help physicians diagnose rare genetic diseases in children, surfacing 18 new diagnoses in cases that had previously gone unsolved. It signals continued real-world clinical traction for reasoning models and positions OpenAI in high-stakes medical AI applications.