John Hilton Edwards. 26 March 1928 — 11 October 2007

Abstract

John Edwards was a human geneticist who pioneered the development of clinical genetics in Birmingham. His name is known to all in the field for his discovery in 1960 of trisomy 18, the second trisomic condition to be described in humans after trisomy 21 in Down syndrome in 1959. He was an astute clinician and recognized that if other human chromosome aberrations were to occur, they would be associated with a similar pattern of multiple malformations and handicap. His observation of a nine-week-old child with the provisional diagnosis of Ullich–Turner syndrome suggested this possibility, which was confirmed in samples taken by Edwards at autopsy. His early interest in genetic aspects of disease is evident from his study of Peutz–Jegher syndrome published in 1957. These and similar experiences led him to a varied career in genetics, which at that time seemed to have little place in the practice of medicine. His clinical interests were complemented by his research in population genetics, statistics, genetic linkage, gene mapping and comparative genetics. He was appointed Lecturer in Social Medicine in Birmingham in 1956 and almost all of the next 23 years were spent there as Senior Lecturer, Reader and, from 1967, Professor of Human Genetics. In 1979 he moved to Oxford to become Professor of Genetics in the Biochemistry Department. He retired in 1995 and continued to work on comparative genomics in collaboration with colleagues in Australia and New Zealand. He died in 2007 and is remembered as a kind physician and an outstanding diagnostician. An exceptional scientist, he had a most original mind and a keen wit and was a critical commentator on developments in science.