Keeping pace with technological innovation, an AI large model "PUMCH-GENESIS" for rare diseases developed jointly by Peking Union and the Institute of Automation, the Chinese Academy of Sciences (CASIA) began clinical use in February 2025. Equipped with PUMCH's vast repository of high-quality medical records, expert-level evidence-based decision-making, and multidisciplinary reasoning logic, this "AI physician" enhances physicians' ability to diagnose rare diseases accurately and efficiently, reducing diagnostic delays and addressing nationwide care disparities.

In December, the "PUMCH-GENESIS" AI Hospital Research Institute evolved from diagnostic assistance to a new ecosystem for AI clinical research covering all disease categories. This enables the expertise of leading hospitals to be digitally deployed around the clock at primary healthcare facilities.

To treat transthyretin cardiac amyloidosis, once considered a terminal condition with a survival span of two to five years, the research team at Peking Union has developed a highly sensitive radionuclide imaging technique. This innovation has elevated diagnostic accuracy from 20 percent to 80 percent. The team spearheaded a nationwide multicenter clinical trial for tafamidis treatment of ATTR-CM phase IV, facilitating the drug's domestic market approval and inclusion in medical insurance coverage. Mortality rates have since been reduced by 70 percent.

To alleviate the distress experienced by patients with the rare disease Gitelman syndrome, which necessitates the use of large quantities of tablets containing potassium and magnesium each day, Professor Chen Limeng's team from the Department of Nephrology has collaborated with pharmaceutical companies to develop microparticulate controlled-release tablets featuring higher dosages and improved palatability. The project has now entered the priority pathway for review approval.

"Our mission extends beyond merely treating diseases. We are committed to ensuring patients live with dignity," Chen said.