Recently, PUMCH announced the official establishment of the Department of Rare Diseases, which is another milestone for better serving rare disease patients and advancing healthcare in this regard in China.

Several foreign medical institutions have established medical centers and assembled research teams for rare diseases. They have come a long way in terms of disease diagnosis and treatment, basic research, drug R&D, teaching and training. In China, during the 13th Five-Year Plan period, especially since 2015, the diagnosis, treatment and research on rare diseases have progressed by leaps and bounds: the national definition of rare disease has been completed; the first cluster of national data platforms, the national rare disease registration platform, national rare disease quality control center, national rare disease diagnosis and treatment collaborative network, the first national key laboratory for rare and intractable diseases, and the first national rare disease cohort have been established; national guidelines, teaching materials and special journals for rare diseases have been published; and the Chinese Society of Rare Diseases under the Chinese Medical Association was established. In this process, PUMCH has always acted as the pioneer that has spurred the clinical diagnosis and treatment, scientific research and collaboration in the field of rare diseases in China and initiated many milestone endeavors of nationwide significance, thereby improving China’s capabilities in rare disease diagnosis, treatment and research across the board and enhancing nationwide coordination.

The PUMCH model for rare diseases and the PUMCH scheme for rare disease discipline development not only bring about better outcomes of medical care to rare disease patients but also benefit other disciplines in the hospital. The establishment of the Department of Rare Diseases will promote the practicing of precision medicine and enable modern basic medicine such as genetics and molecular biology to be better translated for and integrated with clinical medicine, thereby improving rare disease research, prevention and treatment and putting up a new beacon for rare disease patients and their families.

Nowadays, rare diseases have become the new focus of discipline building and development efforts. To improve health and well-being of patients with rare diseases by enabling them to seek medical care more conveniently and receive a treatment plan earlier, PUMCH announced the official establishment of the Department of Rare Diseases.

Next, the hospital will speed up efforts to improve the multidisciplinary working mechanism of rare diseases, build a collaborative platform, and create better conditions for expert talents to unleash their potential. Meanwhile, PUMCH will accelerate assembling of talent teams, teaching and training, and clinical research to magnify the exemplary effect nationwide. What PUMCH seeks is for the achievements of high-quality medical development to benefit more patients with rare diseases.

Written by the Department of Human Resources and the Publicity Department

Photographed by Sun Liang

Edited by Xiao Xiong and Wang Yao

Translated by Liu Haiyan