关键词: 罕见病, 罕用药, 立法, 界定标准

Abstract: Through analyses of rare diseases management of several country and regions, successful practices have been discussed. Legislation of rare diseases should be activated as soon as possible to produce specific standard of rare diseases. Accelerating development of translational medicine could be a feasible approach to improve the level of diagnosis and treatment of rare diseases. Strengthening the orientation of management policies should be put into a more significant position to promote incentives of stakeholder in this area. Both enhancing the joint collaboration of different departments and perfecting medical insurance system could be forceful accelerants to create and optimize the management system of rare diseases in China.

Key words: rare diseases, orphan drug, legislation, definition standards