TMTPOST -- China has launched its first AI large language model dedicated to diagnosing rare diseases. The model, named PUMCH-GENESIS, was developed in collaboration between Peking Union Medical College Hospital (PUMCH) and the Institute of Automation under the Chinese Academy of Sciences. In a demonstration, when symptoms such as "significant developmental delays in mobility, language, and social interaction since age two" are entered, the AI can quickly generate alerts for potential rare genetic disorders like Rett syndrome or Angelman syndrome, as well as other complex neurodevelopmental conditions. It also provides medical recommendations, such as which specialized departments to consult and what examinations to undergo. PUMCH-GENESIS recently entered public testing, allowing users to complete preliminary diagnosis consultations and make appointment bookings via the AI tool. Although rare diseases are individually uncommon, their vast diversity presents significant diagnostic challenges, often leading to misdiagnosis or delayed confirmation. AI tools like PUMCH-GENESIS are set to fill this gap, streamlining the diagnostic process and improving accuracy. Zhang Shuyang, president of PUMCH, emphasized that developing AI-assisted diagnostic tools has been a priority for the hospital's rare disease experts. Leveraging China’s accumulated knowledge of rare diseases and its genetic data, PUMCH-GENESIS is the world’s first rare disease model designed with Chinese demographic characteristics in mind, aiming to enhance diagnostic precision and reduce confirmation time.