The Department of Medical Genetics is dedicated to providing precise and efficient new medical services for early diagnosis and treatment of diseases, genetic counseling, and prevention of birth defects at the molecular level to achieve the goal of "precision medicine". All the 121 rare diseases published in the 2018 China Rare Diseases Catalogue are under the comprehensive management of the department, including Wilson's disease (WD), paroxysmal movement disorders, hereditary ataxia, hereditary spastic paraplegia (HSP), hereditary leukoencephalopathy, Charcot-Marie-Tooth disease (CMT), Huntington's disease (HD), mitochondrial disease, hereditary epilepsy, genetic cerebrovascular disease, muscular dystrophy, metabolic myopathy, genetic or immunological peripheral neuropathy, spinal muscular atrophy (SMA), Amyotrophic Lateral Sclerosis (ALS), multiple system atrophy (MSA), myasthenia gravis (MG), neuromyelitis optica (NMO), multiple sclerosis (MS), and so on. In addition, there are specialized outpatient clinics for WD, hereditary movement disorders, ALS, and neuromyopathy.

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