Thoughts on Selection of Rare Diseases and Prioritized Research Topics
LI Kexin,
CHEN Jingdan,
ZHANG Dingding,
GUO Wudong,
ZHENG Jiayin,
LI Linkang,
ZHAO Kun,
ZHANG Shuyang
Affiliations
LI Kexin
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing 100022, China
CHEN Jingdan
ZHANG Dingding
Institute of Clinical Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
GUO Wudong
China National Health Development Reasearch Center, Beijing 100032, China
ZHENG Jiayin
LI Linkang
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Beijing 100022, China
ZHAO Kun
China National Health Development Reasearch Center, Beijing 100032, China
ZHANG Shuyang
Department of Cardiology, State Key Laboratory of Complex Severe and Rare Diseases, National Rare Disease Medical Quality Control Center, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
This article combs and summarizes the entire process of rare disease selection and priority theme determination, including the application and preliminary review of rare diseases, standardization of disease theme information, the evaluation methods of evidence sorting and disease selection for priority selection of disease themes, and other aspects of the content were analyzed in depth. It is expected to provide reference for the subsequent selection of rare diseases, improve the fairness, rationality and scientificity of rare disease selection, and further promote research and decision-making in China′s rare disease-related fields.
