Chinese Research Team Develops AI-Powered Diagnostic System for Rare Diseases
A Chinese research team has developed DeepRare, an AI-powered rare disease diagnostic system that sets a new record for diagnostic accuracy, according to a study published in the journal Nature.
The system 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. Since its online diagnostic platform was launched last July, it has registered over 1,000 professional users across more than 600 medical and research institutions worldwide.
Test data show that when only patients’ clinical phenotypic information was provided without genetic data, DeepRare achieved a first-attempt accuracy of 57.18 percent in phenotypic diagnosis, an improvement of nearly 24 percentage points over the previous global model. When genetic data were incorporated, its diagnostic accuracy exceeded 70 percent.
The evidence-based system integrates real-time access to a vast repository of medical literature knowledge and real-world clinical case data, employing an iterative cycle of hypothesis, verification and self-reflection to evaluate diagnostic clues and correct logical gaps.
The research team is preparing to initiate a global AI alliance for rare disease diagnosis and treatment and plans to complete real-world validation of 20,000 rare disease cases within the next six months.
📰 Source: Xinhua via Technology News China | https://www.technologynewschina.com/2026/02/chinese-research-team-develops-ai.html