Pediatric Genetic Diseases Department

Pediatric Genetic Diseases Department The Department of Genetic Diseases of Guangzhou Women and Children’s Medical Center was established in the early 1980s and belonged to the Department of Genetics and Endocrinology. After four decades of exploration, the Department of Genetics and Endocrinology has continued to expand and has now developed into the largest and most technically advanced center in South China for the diagnosis and treatment of pediatric endocrine diseases, genetic metabolic diseases, and rare diseases. Guangzhou Women and Children’s Medical Center is the leading institution of the Guangdong Provincial Rare Disease Diagnosis and Treatment Collaboration Network, a deputy chair institution of the Rare Diseases Branch of the Chinese Medical Association, the chair institution of the Rare Diseases Branch of the Guangdong Medical Association, and the leading institution of the Endocrine, Genetic and Metabolic Diseases Group of the Pediatrics Branch of the Guangdong Medical Association. Its primary supporting department is the Department of Genetics and Endocrinology, which plays an important role in promoting the diagnosis, treatment, and basic research of endocrine, genetic, and metabolic diseases in Guangdong Province and surrounding areas. The Genetics and Endocrinology specialty consists of outpatient services, inpatient wards, and a specialty laboratory. The specialty currently has more than 30 specialized physicians, more than 20 laboratory technicians and research personnel, and more than 10 doctors with doctoral degrees. It receives more than 70,000 outpatient visits and more than 3,000 inpatients annually, with patients coming from South China and throughout the country. The specialty has long been committed to the early screening, early diagnosis, standardized treatment, and prevention of pediatric endocrine diseases, genetic metabolic diseases, diabetes, and rare and critical genetic diseases. Its Pediatric Diabetes Diagnosis and Treatment Center is one of the collaborative centers of the National Health Commission’s Integrated Medical Management Model Project for Diabetes, and it has accumulated extensive experience in treating children with acute and critical illnesses, including acute metabolic disorders. The specialty has treated several hundred children with hepatic glycogen storage disease and hepatolenticular degeneration using specialized dietary therapy, achieving good outcomes. In collaboration with the Department of Hematology, it has successfully carried out hematopoietic stem cell transplantation for genetic metabolic diseases including mucopolysaccharidosis, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy, and fucosidosis. Enzyme replacement therapy has been provided for Gaucher disease, mucopolysaccharidosis, Fabry disease, and other conditions. Precision targeted drug therapy has been provided for spinal muscular atrophy and hypophosphatemic rickets. In collaboration with the Department of Hepatobiliary Surgery, the specialty has successfully used 18F-DOPA-PET imaging for localization and performed precision surgery on children with congenital hyperinsulinism. In collaboration with the Department of Urology, it established a multidisciplinary diagnosis and treatment model for disorders of sex development, improving the precision of diagnosis and treatment for disorders of sex development such as micropenis, hypospadias, and sex reversal. The Genetics and Endocrinology Specialty Laboratory is a key laboratory for pediatric genetic disease research under Guangdong Province’s 12th Five-Year Plan. It was among the earliest in China to establish analytical platforms for urinary organic acid profiles, plasma amino acid profiles, plasma acylcarnitine profiles, urinary pterin profiles, cerebrospinal fluid neurotransmitter analysis, and lysosomal storage disease enzyme activity assays. It has established gene testing and analysis methods for hundreds of monogenic genetic diseases and a next-generation sequencing analysis platform. In collaboration with the Prenatal Diagnosis Center and the Reproductive Center, it conducts prenatal diagnosis and preimplantation diagnosis of rare genetic metabolic diseases. It is the only specialty laboratory in Guangdong Province equipped to independently perform metabolite analysis, enzymatic diagnosis, molecular genetic diagnosis, prenatal diagnosis, and basic research on rare diseases. The specialty continues to conduct basic and clinical research on subjects including the pathogenesis of endocrine, genetic, and metabolic diseases. Over the past five years, it has undertaken more than 30 national, provincial, and municipal research projects, including 8 projects funded by the National Natural Science Foundation of China, published more than 100 high-quality SCI papers, and received the Second Prize of the 2021 Guangdong Provincial Science and Technology Progress Award.