OBJECTIVES: Compare policies and research status of rare diseases and orphan drugs between China and other countries, provide a reference for establish rare diseases and orphan drugs policy for China. METHODS: Described and analyzed related policies and development application of rare diseases and orphan drugs between China and other countries by literature research method, then compare differences and summarize. RESULTS: The United States first through the "Orphan Drug Act" in 1983, then the EU, Singapore and other countries have developed orphan drugs incentive policies, including research funding, market exclusivity, etc. From 2008 to 2011, America funded research projects of rare diseases and orphan drugs total 15,657, the total amount of about $ 6.08 billion. From 2012 to 2015, the NIH funded $14.185 billion to rare diseases research projects. In 2011, the EU Health Research Council and the US NIH set up the International Rare Disease Research Consortium, the goal is to 2020 to complete the 200 new treatments of rare diseases. To 2015, it has developed 158 treatments of rare diseases. From 2008 to 2012, China National Natural Science Foundation funded rare diseases research projects total 1218, the total amount of 404 million yuan. At present, China has no complete Orphan Drug Act. However, multi-sector and staff working together to promote the progress of rare diseases. China set up a Committee of Experts on Rare Diseases treatment and protection in January 2016, efforts to improve the plight of rare disease. CONCLUSIONS: Compared with other countries, China's lack of rare diseases related policies and laws. Learn from foreign advanced experience, to establish rare diseases policy that suitable for China. Definite rare diseases and improve the accessibility of rare diseases drugs to jointly safeguard the health interests of the rare diseases.