Editor's Note: In the new era and new journey, PUMCHers stay committed to studying acute, critical, intractable and rare diseases, honoring the fine tradition of "putting national interests first” by unswervingly improving the diagnosis and treatment of intractable, critical and rare diseases. As a medical center of national prominence, PUMCH is forging ahead in the path of high-quality development of public hospitals to bring the mission of “addressing people’s needs” to new heights.

The 2022 China Conference for Rare Diseases, organized by the China Alliance for Rare Diseases and China Pharmaceutical Innovation and Research Development Association, sponsored by PUMCH, was convened in Beijing on October 29 under the theme of Life First, Share Health. Practitioners from health authorities, medical institutions and pharmaceutical companies joined rare disease patients either online or on-site. The rare disease team led by Zhang Shuyang, President of PUMCH, presented in several sessions and attracted wide attention.

In his welcome speech, Academician Zhao Yupei, Chairman of the China Alliance for Rare Diseases and Honorary President of PUMCH, said that the China Alliance for Rare Diseases always adheres to the people-centric development path, and has made significant breakthroughs in rare disease research by integrating China's rare disease prevention resources, gathering excellent researchers, upgrading research methods and merging research advantages. Going forward, the Alliance will continue to serve patients with rare diseases and make greater contributions to this field by giving full play to its academic advantages, building a collaborative platform where the message of government can be conveyed clearly, and all sections of society will join hands.

On the topic of how to build a Chinese-specific model for the diagnosis, treatment and support of rare diseases, experts held in-depth discussions and shared insights that stressed diagnosis, treatment and support on the screening, prevention, precise diagnosis and treatment, multi-party cooperation, public health, health exchange, medical insurance access and talent cultivation.

"There is no such thing as a valueless life and one person’s valuable life is connected with multiple families." President Zhang Shuyang said sincerely. The frustration and powerlessness she felt in face of rare disease patients used to be her most downhearted moment, but in recent years, there has been some hope on the horizon thanks to the innovative breakthroughs and rapid development of rare disease diagnosis and treatment in China. It is the aspiration of PUMCH to further promote the diagnosis, treatment and research of rare disease through discipline development, talent cultivation and high-quality hospital growth, so that all sections of society will join hands to create a better future for patients with rare diseases and contribute to protecting their lives.

Apart from the opening ceremony and the main forum, there were summit discussions, closed-door sessions, sub-track forums, special sessions, the 2022 annual quality control work conference of the National Rare Disease Quality Control Center, online training of the National Rare Disease Diagnosis and Treatment Collaborative Network, and single disease MDT online seminars to showcase the hot topics and technological innovations in rare diseases from the perspectives of research, clinical and support.

More than 50 experts from department of cardiology, gastroenterology, respiratory and critical care medicine, nephrology, hematology, rheumatology, endocrinology, orthopedics, intensive care unit, pediatrics, neurology, ophthalmology, clinical laboratory, pathology, radiology, nuclear medicine, pharmacy, scientific research, information technology center and medical research center attended a range of sessions, expressing PUMCH’s views and sharing PUMCH’s experience in the treatment and research of rare diseases, which aroused widespread attention and warm reactions.

In 2019, PUMCH jointly launched the China Alliance for Rare Diseases with three societies/associations. In the past four years, to strongly drive the diagnosis, treatment, and support of rare diseases in China, the Alliance has built industry platforms, promoted policy implementation, formulated industry development plans, explored the construction of rare disease diagnosis and treatment and protection system, hosted journals, conducted surveys and studies, and carried out public welfare activities. As the national guiding center for the diagnosis and treatment of rare diseases designated by the National Health Commission and the only national leader of the National Rare Disease Treatment Collaborative Network, PUMCH will earnestly study and implement the spirit of the 20th CPC National Congress, guided by General Secretary Xi Jinping's thought of socialism with Chinese characteristics in the new era, and make continuous efforts to provide medical treatment and support for rare disease patients, so as to realize the vision of early detection, early treatment, high accessibility and affordability.

Written by: The Department of Publicity and the China Alliance for Rare Diseases

Translator: Liu Haiyan

Editor: Wang Yao