Chinese research team develops AI-powered diagnostic system for rare diseases

Xinhua

19th February 2026

Chinese research team develops AI-powered diagnostic system for rare diseases

A Chinese research team has developed an AI-powered rare disease diagnostic system called DeepRare, setting a new record for diagnostic accuracy, according to a study published Thursday in the journal Nature.

The diagnosis and treatment of rare diseases have long faced challenges in confirming cases without genetic testing, particularly in regions with limited access to such services. Meanwhile, traditional medical AI diagnostic systems often encounter trust issues due to their non-traceable reasoning processes.

The evidence-based DeepRare was developed by a team from Xinhua Hospital, affiliated with the Shanghai Jiao Tong University (SJTU) School of Medicine and SJTU School of Artificial Intelligence.

https://english.news.cn/20260220/b6741b0db9ce4eedbe17c7ffcc640d5e/c.html