Victor Almon McKusick

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Victor McKusick

Victor Almon McKusick (born  October 21, 1921 in Parkman , Maine , †  July 22, 2008 in Towson , Maryland ) was an American human geneticist . He is considered a co-founder of human genetics as an independent subject. McKusick was the founder and longtime editor of Mendelian Inheritance in Man and Online Mendelian Inheritance in Man - a catalog of known human genes and the hereditary diseases associated with them - and has received numerous awards for his scientific achievements in the field of diagnosis and therapy of genetic diseases .

Life

Victor A. McKusick was 1921 in Parkman in the State of Maine , the son of farmers born previously as a teacher had been active. He began studying at Tufts University in 1940 . In the fall of 1942 he moved to Johns Hopkins University , where he was admitted to medical school without an undergraduate degree , as the university had a shortage of students due to the Second World War . He gave up original plans to work as a general practitioner in his home state of Maine in favor of specializing in internal medicine . He became a cardiologist and was director of the cardiovascular disease division at Baltimore Marine Hospital from 1948 to 1950.

Investigating a patient with the rare Peutz-Jeghers syndrome arose his interest in research into genetic diseases, which determined his scientific and medical work from the end of the 1950s. In the course of his further career he devoted himself to the investigation and systematic recording of the causes and symptoms of various hereditary diseases and in 1957 he founded the Department of Medical Genetics at Johns Hopkins University, which he headed until 1973. In 1966 he published a list of the known human genes and the diseases associated with them for the first time under the title "Mendelian Inheritance of Man". Twelve printed editions of this were published up to 1998, under the name "Online Mendelian Inheritance in Man" (OMIM), a continuously updated online version is also available. He was also at the origin of the human genome project and the grounds of the journal substantially involved "Genomics" and 1989 founding president of the Human Genome Organization . From 1973 to 1985 he was chief physician at Johns Hopkins Hospital. He then worked at Johns Hopkins University until shortly before his death as a professor of medical genetics.

Victor McKusick died in Towson in 2008 of cancer-related complications. He was married from 1949 and had two sons and a daughter with his wife. His twin brother Vincent became a lawyer and served, among other things, as presiding judge at the Supreme Court of Maine.

Awards

Victor McKusick was a member of the National Academy of Sciences from 1973 , of the American Philosophical Society from 1975 and of the American Academy of Arts and Sciences from 1988 . The awards for his life's work included various honorary doctorates, among others, a Gairdner Foundation International Award and the William Allan Award (both 1977), the NAS Award for Scientific Reviewing (1982), the George M. Kober Medal (1990), the Benjamin Franklin American Philosophical Society Medal (1996), the Albert Lasker Special Achievement Award (1997), the National Medal of Science (2001), and the Japan Prize in Medical Genomics and Genetics (2008).

After him, metaphyseal chondrodysplasia of the McKusick type and McKusick-Kaufman syndrome, two rare genetic diseases as well as a chair and an institute at Johns Hopkins University are named. Various syndromes are also associated with his name, such as the Eldridge-Berlin-McKusick-Money syndrome , Eaton-McKusick syndrome , Cross-McKusick-Breen syndrome , Mengel-Konigsmark-Berlin-McKusick syndrome or the stiff skin syndrome ( English Easterly-McKusick syndrome ).

Works (selection)

  • Mendelian Inheritance in Man. Baltimore 1966-1998
  • Human Genetics. Englewood Cliffs 1969
  • Heritable Disorders of Connective Tissue. St. Louis 1972
  • Medical and Experimental Mammalian Genetics. New York 1987

literature

  • Clyde F. Barker: Victor A. McKusick . In: Proceedings of the American Philosophical Society . tape 160 , no. 1 , 2016, p. 103-107 . Full text (PDF)
  • Aravinda Chakravarti: Victor Almon McKusick (1921-2008). In: Nature . Volume 455, 2008, p. 46. doi: 10.1038 / 455046a
  • Mikaela I. Poling: Victor Almon McKusick (October 21, 1921– July 22, 2008): Philosophical approach and historiography. In: Journal of Medical Biography. Volume 25, No. 4, 2017. doi: 10.1177 / 0967772016666207 , full text

Web links

Individual evidence

  1. ↑ "Founder of medical genetics died" , Spiegel Online , July 24, 2008
personal data
SURNAME McKusick, Victor Almon
ALTERNATIVE NAMES McKusick, Victor A.
BRIEF DESCRIPTION American doctor and human geneticist
DATE OF BIRTH October 21, 1921
PLACE OF BIRTH Parkman, Maine
DATE OF DEATH July 22, 2008
Place of death Towson, Maryland