China unveils rare disease diagnostic tool

Developed jointly by Peking Union Medical College Hospital (PUMCH) and the Institute of Automation under the Chinese Academy of Sciences, AI-based tool can analyse a patient's symptoms, and within seconds identify potential rare diseases such as Rett or Angelman syndrome, along with suggested medical interventions.

Experts highlight that the programme uses a new technical scheme that integrates data with clinical expertise, providing robust decision support for clinicians throughout the diagnostic process. This is reported by the Global Times, a partner of TV BRICS.

During the public testing phase, patients can participate in multi-round dialogues with the model to receive initial diagnostic recommendations and make appointments with physicians.

Based on China's accumulated rare disease knowledge and genetic data from its population, this tool is the world's first rare disease model tailored to Chinese demographic characteristics. It enhances diagnostic accuracy and efficiency for clinicians while shortening confirmation timelines.

Earlier, researchers from the Institute of Automation at the Chinese Academy of Sciences have uncovered the genetic principles underlying the structural organisation of the human brain cortex.