# rare disease

Chinese Researchers Publish 'Explainable' AI That Boosts First‑Pass Rare‑Disease Diagnosis — A Tool for Hospitals Without Genetic Testing

Researchers at Shanghai Jiao Tong University published DeepRare in Nature, an AI system that diagnoses rare diseases with a traceable reasoning process. It achieved 57.18% first‑pass accuracy using only clinical symptoms and exceeds 70% when genetic data are included, promising improved triage in hospitals without routine genetic testing.