Charles Scriver is internationally distinguished for his major contributions to the diagnosis, treatment, and underlying pathology of human inherited metabolic disease, and, in some cases, of their analogues in mice. He has made a particular study of the kidney, especially the phosphate transport underlying hypophosphataemia in humans and mice, and this has greatly improved diagnosis and treatment. His major studies include: defects in transepithelial amino acid transport; the pathogenesis and treatment of X-linked hypophosphataemic rickets; and inborn errors of amino acid metabolism. His laboratory has made major contributions to the discovery of many genetic diseases, including hyperprolinaemia type I, alpha-methylaceto-aceticaciduria, pseudohypophosphatasia, adolescent cystinosis, hypophosphataemic nonrachitic bone disease, hyper-beta-alaninemia and carnosinaemia. He was a pioneer in the prenatal screening of neonatal metabolic disorders in which Montreal is a leading centre. He continues to exert a major influence on the development of human genetics in Canada.