Dr. Janice Y. Chou is the Section Chief on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, NICHD, a position she has held since 1983. In this role, Dr. Chou conducts research to understand the molecular genetics and pathogenesis of glycogen storage diseases type Ia (GSD-Ia) and type Ib (GSD-Ib), which arise from defects in glucose-6-phosphate metabolism, and a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-beta (G6Pase-beta) deficiency. Through the use of transgenic mouse models, Dr Chou also pioneers preclinical development of gene-based therapies for these disorders.
Dr. Chou received her Ph.D. degree in Biochemistry from University of Utah and began her post-graduate scientific career at NIDDK, NIH. She then joined NICHD and was promoted to Section Chief in 1983. During her career at the NIH, Dr. Chou has made contributions across a wide area of gene regulation and cellular differentiation, including the development of some of the first temperature-sensitive cell lines, the elucidation of the mechanism of cell transformation, and the characterization of gene regulatory sequences and transcription factors in the context of developmentally regulated genes. Since 1993, her research has focused on the molecular genetics of human heritable disorders. She has established the genetic basis of methionine adenosyltransferase deficiency, GSD-Ia, GSD-Ib, and G6Pase-beta deficiency, and developed gene therapy for GSD-Ia and GSD-Ib. Dr. Chou holds two patents and has served as a member of the Personnel Promotion Committee at NICHD, the Selection Committee of the Reproduction Scientist Development Program, and the Association for Glycogen Storage Diseases. She has received a Superior Service Award from the US Public Health Service and a Scientific Achievement Award from the Chinese Medical and Health Association. She was also cited in the Maryland Women's History Resource Kit. Dr. Chou has authored over 200 peer-reviewed scientific papers, review articles, and book chapters.