Identification of ATP7B

Abstract In the late 1980s, building upon successes in identifying the genes associated with other monogenic inherited disorders (Duchenne muscular dystrophy, cystic fibrosis), a team at the Hospital for Sick Children commenced a project to identify the gene abnormal in Wilson disease, which was known to be autosomal recessive and probably monogenic. This involved painstaking methodology but culminated in the identification of ATP7B in 1993.