Abstract: Rare diseases refer to a type of disease with a very low incidence rate.  At present，there are more than 7 000 kinds of rare diseases, 80% of which  are hereditary,  mainly including congenital malformations,  endocrin  metabolism， and nervous system diseases. The awareness of rare diseases is low,  the rate of misdiagnosis is high,  and the accessibility of treatment is poor. With the development of genetic technology,  great progress has been made in the diagnosis and treatment of rare diseases. Under the active promotion of the government and various social forces,  China has become the country with the fastest progress in the diagnosis and treatment of rare diseases,  which marks the improvement of medical level and the progress of social civilization in China.

Key words: heredity, abnormalities;genes, rare disease, diagnosis;therapy, social security