How an AI system beat experienced doctors at diagnosing rare diseases

DeepRare, an agentic AI system integrating 40 specialised tools, outperformed medical specialists in identifying rare conditions in a head-to-head study published in Nature.

For millions of people with rare diseases, the path to diagnosis is a labyrinth. Patients bounce between generalist GPs and specialists across years, sometimes decades, piecing together symptoms that fall outside textbook presentations.

Eighty per cent of rare diseases have a genetic origin, yet most go undiagnosed until too much biological damage has occurred. The bottleneck is not lack of data, it’s finding the needle in the medical haystack.

A new study published in Nature this month suggests that artificial intelligence may accelerate that hunt. Researchers at Shanghai Jiao Tong University’s School of Artificial Intelligence and Xinhua Hospital developed DeepRare, an AI system designed to mimic how human doctors reason through diagnostic uncertainty.

In a head-to-head comparison with five experienced physicians, each with more than ...