Abstract��OBJECTIVE To study and collate the literature on rare diseases in domestic and abroad, and comparative analysis, provide a scientific basis for the domestic rare diseases research. METHODS Retrieved the Web of Science, China National Knowledge Infrastructure from January 2011 to June 2016 published literature about rare diseases. RESULTS Through the screening of literature, finally determine the 200 articles for analysis. It is divided into seven research directions:rare diseases policy research, rare diseases legal and regulatory research, rare diseases medical social security study, orphan drugs availability research, orphan drugs economic evaluation study, orphan drug development research, rare diseases defined standard research. CONCLUSION Rare diseases policy research is the focus of research both domestic and abroad. Compared with foreign countries, the domestic research on the availability and economic evaluation of orphan drug is less, especially the economic evaluation research is almost blank. It is suggested that the researchers study the multiple aspects of rare diseases and drugs, and to provide the basis and reference for build rare disease policy in China.In addition to the field of rare diseases research, rare diseases drugs face many difficulties in pharmaceutical research, production and supply.The precondition to solve these problems is the nation formulate specific policies and regulations for rare diseases,and then clear the official definition standards of rare diseases,establish relevant policies to encourage pharmaceutical companies to develop rare diseases drugs.
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