John Hilton Edwards

John Hilton Edwards (1928 – 2007) was an English physician and medical geneticist.

Edwards was an early promoter of open data sharing in genetics research. Edwards made a major contribution to clinical genetics with “Simulation of Mendelism“, which discusses genetic susceptibility to diseases such as diabetes and coronary artery disease and the complex nature of genetic and environmental factors. In particular Edwards noted the association between the condition and areas of poverty and considered impact of nutrition as cause of congenital abnormalities of the central nervous system.

Work on the causes of congenital dislocation of the hip and its environmental risk factors [1958]; spina bifida and anencephalus [1958]; X Linked Hydrocephalus [1961]; and tissue typing and “allelic association”. Early promoter of the use of amniocentesis in the detection of antenatal hereditary disorders.

Most remembered for his discovery in 1960 of trisomy 18 (initially described as Trisomy 17), the second trisomic condition to be described in humans after trisomy 21 in Down syndrome in 1959

He was a well-respected and inspiring teacher to his students and colleagues.  His absentmindedness was also well known – once oiling his skis with cheese – and his love of reading and mathematics. 

  • Born 26 March 1928 in Dulwich, London
  • 1952 – Qualified as a doctor and spent 9 months on a scientific research ship called the John Biscoe in the South Atlantic
  • 1953 – Married Felicity Toussaint who was a fellow medical student
  • 1956 – Joined Birmingham University where he was initially as a lecturer in social medicine for 2 years
  • 1958 – Joined the Medical Research Council Population Genetics Unit, Oxford.
  • 1960 – Consultant in Genetics at the Children’s Hospital of Philadelphia
  • 1960 – First described the genetic disorder known as Trisomy 18
  • 1961 – Returned to Birmingham University to work in human genetics where he set up multiple genetic clinics in he West Midlands
  • 1965 – Promotion to senior lecturer
  • 1965 – Consulted with the University of Iceland to record linkage of all Icelandic births from 1840
  • 1967 – Promotion to Reader in Human Genetics    
  • 1972 – Genetics consultant to the World Health Organisation
  • 1979 – Elected to fellowship of the Royal Society (FRS) and also became Professor of Genetics at Oxford University
  • 1995 – retired
  • Died 11 October 2007

Medical Eponyms
Edwards syndrome [Trisomy 18]

Following the discovery of Trisomy 21 by Lejeune et al 1959, Edwards went on to discover a further trisomy. His research Initially revealed an extra chromosome in the 17-18 group which was initially identified as 17 and later corrected to 18.

A female infant presenting with a peculiar facies, webbing of the neck, congenital heart disease, neonatal hepatitis and many minor abnormalities was found on post mortem chromosomal study to have an extra chromosome apparently identical to the 17th pair

Edwards et al, 1960: 789
Edwards Trisomy 18 1960 787

Accounts of two 18-trisomics have been published in detail, four more only to the extent necessary to show that the case discovered independently by Edwards et al. also belongs to this syndrome, and that the extra chromosome is no. 18 rather than 17 as claimed by the British authors. 

Smith, Patau, Therman 1961

Key Medical Attributions

Clinical Genetics:

There are 22 pairs of autosomes in man, and it is possible that 22 syndromes of autosomal trisomy exist; some, however, may be incompatible with intra-uterine life”

Edwards et al, 1960

Development of the Oxford Grid alongside other geneticists at Harwell including Mary Lyon and Tony Searle. This tool allows comparison of homologous gene sequences in different species. This was initially done to show the similarities between mouse and man.  An online database has since been created with Frank Nicholas and colleagues at the University of Sydney to include further species and provide a valuable resource in evolutionary studies.

Edwards contributed new computer methods which enabled genes to be assigned and ordered to specific chromosomes, which helped towards completion of the human genome project in 2001.

Painless skin biopsy:

As part of his research into this developed a new method to enable less traumatic and invasive methods of chromosomal sampling.  Previously this could only be done on either bone marrow or testis samples.  He created a skin biopsy method instead which was published in a note to the lancet in 1960

Major Publications

Notable Quotables

John Edward’s absent mindedness was legendary.  He twice arrived at Heathrow without his passport.  He traveled from Oxford tp the Athenaeum without realizing his dress trousers were 5 inches too short, his daughter having tacked them up for a fancy dress party.  He once oiled his skis with a tube of processed cheese

Richmond, 2007

The genius of the man came in thinking laterally, diagonally and all other ways except a vertical direction…My memories are of kindness combined with eccentricity

Craig, 2017




BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

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