标题：Epidemiological research, scientific research, and applied research on rare diseases in China: current challenges and prospects for the future
作者：Tang, Qi; Song, Peipei; Mei, Lin; Xu, Lingzhong; Tang, Wei
作者机构：[Tang, Qi; Mei, Lin; Xu, Lingzhong; Tang, Wei] Shandong Univ, Sch Publ Hlth, Jinan, Shandong, Peoples R China.; [Tang, Qi; Tang, Wei] Tokyo Univ Hos 更多
通讯作者地址：[Tang, W]Tokyo Univ Hosp, Dept Surg, Bunkyo Ku, Hongo 7-3-1, Tokyo 1138655, Japan.
来源：EXPERT OPINION ON ORPHAN DRUGS
关键词：Rare diseases; orphan drugs; scientific research; national plan
摘要：Introduction: This review describes the current scientific research on RDs in China. A fundamental flaw in the prevention and control of RDs is the lack of social insurance for patients with an RD.; Areas covered: This paper explains and evaluates the current scientific research on RDs in China. Issues with epidemiological research on RDs are undefined disease entities and the lack of an inventory of those diseases and baseline data, national epidemiological surveys. Fewer diseases have been studied, fewer research grants have been given, fewer articles have been published, and fewer studies to standardize diagnosis and treatment have been conducted in China than in Japan. Issues with applied research are limited standardization of the diagnosis and treatment of RDs and the shortage of medical facilities specializing in RDs.; Expert opinion: Given these circumstances, the Chinese Government should establish a framework for a national plan to combat RDs, it should fund scientific research, enhance the management of RD research, support the development of novel drugs, increase international cooperation and improve the nation's ability to combat RDs. The system of basic medical insurance in China has gradually improved, and hopes are that medical insurance will be provided to patients with an RD.