China has made remarkable strides in rare disease management in recent years. What was once a landscape where "doctors who can treat rare diseases are rarer than the diseases themselves" has transformed dramatically. Diagnosis time has been reduced fro...

On February 18, 2025, a research team led by Professor Chen Lixia, Director of the Department of Rehabilitation Medicine at PUMCH, published a single-center randomized controlled trial in JAMA Network Open (IF=10.5), a journal in the JAMA network. The study co...

On February 16, 2025, PUMCH-GENESIS, an AI large model for rare diseases jointly developed by PUMCH and the Institute of Automation, Chinese Academy of Sciences (CASIA), officially began clinical use. Built on China's extensive rare disease knowledge base and ...

In a groundbreaking discovery, a research team led by Professor Song Hongmei, Director of Pediatrics at PUMCH, in collaboration with Professor Zhou Qing's team from Zhejiang University, has identified the first case of early-onset systemic lupus erythematosus ...