Beijing Children's Hospital, China

About

Beijing Children's Hospital is the oldest and largest pediatric medical center in China, and has an irreplaceable position in the field of diagnosis and treatment of rare diseases in children. The hospital has a special diagnosis and treatment center for rare diseases, covering genetic metabolic diseases, congenital immune defects, rare bone diseases and neuromuscular diseases. Relying on the complete genetic testing and neonatal screening system, early diagnosis and early treatment of a variety of rare diseases in children have been achieved, significantly improving the prognosis of children.

Specialties

• Hereditary metabolic disease in children
• congenital immunodeficiency
• Rare bone and muscle diseases
• Screening for rare diseases in newborns

Achievements

• Establish China's first multidisciplinary diagnosis and treatment platform for rare diseases in children
• A total of more than 500 rare diseases have been diagnosed
• Lead the development of multiple diagnosis and treatment guidelines for rare diseases in children