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Shanghai has always attached importance to the prevention and treatment of rare diseases and has been at the forefront in China. The Shanghai Rare Diseases Diagnosis and Treatment Center, Shanghai Children's Rare Diseases Diagnosis and Treatment Center, and Shanghai Rare Diseases Specialist Clinic were established in February 2018. Moreover, with the development of clinical pathways for rare diseases and the provision of related services such as diagnosis, treatment, screening, information and training, the service system for diagnosis and treatment of rare diseases in Shanghai has formed, which greatly improves the accessibility of medical services for patients with rare diseases in Shanghai and surrounding areas, and is of great significance in reducing the burden on patients with rare diseases. Meanwhile, it also gives an important reference for other regions of China for providing rare disease diagnosis and treatment services.

System building and improvement for the diagnosis and treatment of rare diseases in Shanghai, China