On March 19, 2023, the kick-off of the PUMCH Rare Disease Key Research Projects and the Rare Diseases Diagnosis Research and Translation Forum were held in the Translational Medicine Complex of the hospital. Multiple projects were launched on the same day: the multimodal diagnosis and treatment platform for rare diseases and its translation and application led by Prof. Zhang Shuyang; the project of establishing life-cycle cohorts of hereditary rare diseases of important organs and research on the corresponding modes of inheritance, pathogenesis and targeted therapies led by Academician Zhang Xue; and the project of research and clinical application of AI-aided diagnosis technology for rare and intractable diseases led by Prof. Chen Limeng. Together they paint the blueprint of the major science and technology undertakings of PUMCH in the field of rare diseases during the 14th Five-year Plan period.

Vice President Wu Peixin delivered a speech on behalf of PUMCH as the project leading institution. He said that under the joint efforts of President Zhang Shuyang and the expert teams, PUMCH had achieved a series of research accomplishments in the field of rare diseases and proposed the Chinese solution for their diagnosis, treatment and research. Going forward, PUMCH would fulfill its responsibilities as the project leading institution and do its utmost to provide the resources, platforms and conditions needed and strictly manage projects to ensure their smooth implementation. Organizational innovation, model innovation, mechanism innovation and technology innovation would all be leveraged to further consolidate the advantages of innovation-driven development. With the concerted efforts of the superior authorities, project partners and other parties involved, more and better clinically applicable outcomes will be secured.

President Zhang Shuyang elaborated on the overall goal of the project she led, “the multimodal diagnosis and treatment platform for rare diseases and its translation and application”, which is to improve the overall diagnosis and treatment capabilities of rare diseases via further exploration into the early diagnosis and treatment. Diving into five specific areas, the project will leverage the currently rapidly developing AI, AI-aided decision-making, 5G and other new technologies to establish a rare disease diagnosis and treatment support platform and a national tiered care network. They will be equipped with multimodal data fusion and analysis technologies and an intelligent toolset for genetic analysis and diagnosis and treatment decision-making, in a bid to offer such functions as intelligent multidisciplinary remote care, teaching, translation and applications and map the rare disease phenotypes, genetic variants and geographical scope.

As the leader of another national key R&D program during the 14th Five-year Plan period, Academician Zhang Xue introduced his project of establishing life-cycle cohorts of hereditary rare diseases of important organs and studying the corresponding modes of inheritance, pathogenesis and targeted therapies.

Professor Chen Limeng explained that the project of “research and clinical application of AI-aided diagnosis technology for rare and intractable diseases” is underpinned by the complementary strengths of the PUMCH rare disease team led by President Zhang Shuyang, and the AI teams of the Chinese Academy of Sciences and of multiple universities. The project will explore the multimodal whole-process assisting system for rare disease diagnosis and decision making and apply and promote their outcomes in members of the national rare disease diagnosis and treatment collaborative network to help lower-tiered healthcare institutions improve their capabilities in identifying rare diseases.

Relevant leaders and project specialists from the Ministry of Science and Technology and the National Health Commission attended the event as well. PUMCH leaders briefed the attendees about project management, project fund uses and data security management one by one. The meeting included implementation plan discussion and demonstration and expert inquiry and guidance.

Written by Hong Chengwei and Chen Mingyan

Photographed by Sun Liang

Translated by Liu Haiyan

Edited by Wang Yao