China Launches Its First AI Model for Rare Disease Diagnosis

Xinhua

20th February 2025

China Launches Its First AI Model for Rare Disease Diagnosis

 When symptoms such as "noticing significant developmental delays in mobility, language, and social interaction since age two" are entered into a dialogue box, an AI large model can generate alerts about potential rare genetic disorders, such as Rett syndrome or Angelman syndrome, or complex neurodevelopmental conditions within seconds, alongside medical recommendations including specialized departments for consultation and necessary examinations.

This scenario emerged during a trial of China's first AI large language model dedicated to rare diseases, PUMCH-GENESIS, developed jointly by Peking Union Medical College Hospital (PUMCH) and the Institute of Automation under the Chinese Academy of Sciences.

https://www.globaltimes.cn/page/202502/1328842.shtml