This section devoted to The History of Down syndrome reveals the field’s evolution to present day. The work of pioneers has produced vital knowledge about trisomy 21 that is advancing today’s science and improving health outcomes.
Charles Epstein, a pioneer in Down syndrome research
“The science is finally catching up to the clinic.”
Dr. Charles Epstein, a UC San Francisco medical geneticist who studied Down syndrome and pioneered genetic counseling for families with affected children. His major research interests were in the genetics of early embryonic development, the pathogenesis of Down syndrome, genetic approaches to the study of free radical defense mechanisms, and aging. He hypothesized in the early 1970s that the abnormalities found in Down syndrome were due to an increased dosage of critical genes on chromosome 21. His dosage hypothesis was not the favored model at the time but has proven correct.
Sago H; Carlson EJ; Smith DJ; Rubin EM; Crnic LS; Huang TT; Epstein CJ. 2000. Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome. Pediatr Res 48(5):606-13.