Rare diseases have a low incidence rate and are difficult to diagnose and treat. Currently, only about 5% have a- vailable treatments. Starting in the 1980s, China has gone through stages of scattered exploration, large-scale prevention and control. Since 2015, we have strengthened top-level design, released two batches of rare disease catalogs with a total of 207 rare diseases, es- tablished a three-level diagnosis and treatment research system, improved drug review and medical insurance policies as well as promo- ted breakthroughs in domestic innovative drugs for rare diseases. A multi-tiered payment system has been established. This ends the predicament of " no doctors for patients, no medicines for treatment and no insurance coverage for medicines" . In the future, efforts will continue to expand the disease coverage, improve the treatment network, deepen the synergy between pharmaceutical innovation and medical security as well as enhance the public awareness and support for rare diseases.