Birth Defect & Rare Disease Treatment Center


Relying on the platforms of National Clinical Research Center for Child Health and National International Scientific and Technological Cooperation Base for Diagnosis and Treatment of Birth Defect. Birth Defect and Rare Disease Treatment Center has formed the “education- screening- diagnosis- treatment- prevention- management” multidisciplinary mode to meet the needs of prevention for birth defects and rare diseases. The center is one of the earliest screening units for neonatal diseases in China. It has built the largest screening center for integrating screening, diagnosis, treatment and follow-up in the world. The center, characterized by the diagnosis and treatment of rare diseases, has established a genetic diagnosis platform and multiple MDT teams for rare genetic diseases, and built a network platform for rare childhood diseases and the largest international PWS research cohort.