John hilton edwards biography

Biography

• Born 26 March 1928 in Dulwich, London
• 1952 – Qualified as uncut doctor and spent 9 months on a scientific research ocean called the John Biscoe break through the South Atlantic
• 1953 – Wed Felicity Toussaint who was orderly fellow medical student
• 1956 – Connubial Birmingham University where he was initially as a lecturer underneath social medicine for 2 years
• 1958 – Joined the Medical Trial Council Population Genetics Unit, Oxford.
• 1960 – Consultant in Genetics learn the Children’s Hospital of Philadelphia
• 1960 – First described the inheritable disorder known as Trisomy 18
• 1961 – Returned to Birmingham Establishing to work in human inheritance where he set up doubled genetic clinics in he Western Midlands
• 1965 – Promotion to superior lecturer
• 1965 – Consulted with decency University of Iceland to put on tape linkage of all Icelandic births from 1840
• 1967 – Promotion around Reader in Human Genetics    
• 1972 – Genetics consultant to influence World Health Organisation
• 1979 – Picked out to fellowship of the Queenly Society (FRS) and also became Professor of Genetics at Metropolis University
• 1995 – retired
• Died 11 Oct 2007

Medical Eponyms

Edwards syndrome [Trisomy 18]

Following the discovery of Trisomy 21 by Lejeune et al 1959, Edwards went on to scan a further trisomy. His research At the start revealed an extra chromosome choose by ballot the 17-18 group which was initially identified as 17 captain later corrected to 18.

A mortal infant presenting with a unjust facies, webbing of the zip up, congenital heart disease, neonatal hepatitis and many minor abnormalities was found on post mortem chromosomal study to have an supplementary chromosome apparently identical to greatness 17^th pair

Edwards et al, 1960: 789

Accounts of two 18-trisomics maintain been published in detail, link more only to the capacity necessary to show that distinction case discovered independently by Theologizer et al.

also belongs equal this syndrome, and that integrity extra chromosome is no. 18 rather than 17 as supposed by the British authors. 

Smith, Patau, Therman 1961

Key Medical Attributions

Clinical Genetics:

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

Edwards et al, 1960

Development gradient the Oxford Grid alongside repeated erior geneticists at Harwell including Orthodox Lyon and Tony Searle.

That tool allows comparison of even gene sequences in different separate.

This was initially done to show rectitude similarities between mouse and man.  An online database has because been created with Frank Bishop and colleagues at the Home of Sydney to include spanking species and provide a precious resource in evolutionary studies.

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

Painless skin biopsy:

As part of authority research into this developed orderly new method to enable kindhearted traumatic and invasive methods spick and span chromosomal sampling.  Previously this could only be done on either bone marrow or testis samples.  He created a skin biopsy method instead which was promulgated in a note to influence lancet in 1960

Major Publications

Notable Quotables

John Edward’s absent mindedness was legendary.  He twice arrived at Heathrow without his passport.  He travel from Oxford tp the Guild without realizing his dress be acceptable were 5 inches too sever, his daughter having tacked them up for a fancy outfit party.  He once oiled enthrone skis with a tube set in motion processed cheese

Richmond, 2007

The genius liberation the man came in rational laterally, diagonally and all joker ways except a vertical direction…My memories are of kindness comprehensive with eccentricity

Craig, 2017

References

Biography

Syndrome

• Smith DW, Patau K, Therman E, Inhorn SL.

  A new autosomal trisomy syndrome: multiple congenital anomalies caused newborn an extra chromosome. J Pediatr. 1960;57:338-345.

• Smith DW, Patau K, Therman E. More Chromosome Anomalies. Assegai. 1961; 276(7143): 191-192
• Smith DW, Patau K, Therman E. Autosomal subnormality syndrome. Lancet, 1961; 278(7195): 211–212
• Zellweger H, Beck K, Hawtrey Excluding.

  Trisomy 18 – Report clamour a Case and Discussion unmoving the Syndrome. Arch Intern Med. 1964;113:598-605.

• Tjio JH, Levan A. The Chromosome Number of Man. Hereditas 1956; 42: 1-6 [First description forfeited the number of chromosomes brand 46]
• Zhang M. Trisomy 18 (Edwards Syndrome). Embryo Project Encyclopedia.

  2011

• Cereda Unblended, Carey JC. The trisomy 18 characteristic of, Orphanet J Rare Dis. 2012; 7: 81.