Victor Almon McKusick (born October 21, 1921) is a professor of medical genetics at Johns Hopkins University and the main instigator of Mendelian Inheritance in Man, now often referred to unofficially as "McKusick's catalog". October 21 is the 294th day of the year (295th in leap years) in the Gregorian Calendar, with 71 days remaining. ... 1921 (MCMXXI) was a common year starting on Saturday (see link for calendar). ... A professor (Latin: one who claims publicly to be an expert) (prof for short) is a senior teacher, lecturer and researcher, usually in a college or university. ... Medical Genetics is the application of genetics to medicine. ... The Johns Hopkins University is a private institution of higher learning located in Baltimore, Maryland, United States. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

Biography

Victor McKusick was born on a dairy farm in Parkman, Maine. He was an identical twin. His twin Vincent would attend Harvard Law School and serve as a chief justice on the Maine Supreme Court. Victor McKusick was hospitalized at the Massachusetts General Hospital as a 13-year-old and now traces his desire to study medicine back to this event. He did undergraduate studies at Tufts University before going to medical school at the Johns Hopkins University School of Medicine, where he would receive his M.D. in 1946. Parkman is a town located in Piscataquis County, Maine. ... Main entrance of Massachusetts General Hospital Massachusetts General Hospital (MGH) is a teaching hospital of Harvard Medical School and biomedical research facility in Boston, Massachusetts. ... Tufts University is a private university located in Medford, Massachusetts, a suburb in the greater Boston area. ... Medical school generally refers to a tertiary educational institution (or part of such an institution) which is involved in the education of future medical practitioners (medical doctors). ... The Johns Hopkins University is a private institution of higher learning located in Baltimore, Maryland, United States. ... The Medicinæ Doctor or Doctor of Medicine (M.D. or D.M.) is a doctorate level degree held by medical doctors. ... 1946 (MCMXLVI) was a common year starting on Tuesday. ...

Originally, McKusick trained as a cardiologist. In this field, he saw patients with Marfan syndrome, an inherited disorder of connective tissue, which sparked his interest for medical genetics. Although he would make some further contributions to the field of cardiology, e.g. on heart murmurs, he became gradually more and more interested in genetics and in 1957 founded the Division of Medical Genetics at Hopkins. Cardiology is the branch of medicine dealing with disorders of the heart and blood vessels. ... Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. ... Connective tissue is any type of biological tissue with an extensive extracellular matrix and often serves to support, bind together, and protect organs. ... Cardiology is the branch of medicine dealing with disorders of the heart and blood vessels. ... The heart sounds are the noises (sound) generated by the beating heart and the resultant flow of blood through it. ...

In 1966 McKusick published his best-known book, Mendelian Inheritance in Man (MIM), a remarkable compendium of human genetic diseases and genes. MIM had its inception in 1960 when a study of the genes of the X chromosome raised the question of what genetic information was then known (or thought) to be on the X chromosome. The result was a catalog of all proved and suspected [X-linked] traits. The catalog appeared in print in 1962. A study of genetic disorders in the Old Order Amish raised analogous questions about what autosomal recessive conditions might be found in such an inbred group. The result was a catalog of autosomal recessive traits. By 1963 the complexity of the task led to its computerization. In 1964 a catalog of autosomal dominant traits was begun. In 1968 McKusick and colleagues mapped a blood group antigen to chromosome 1, the first gene assigned to a non-sex chromosome. In 1969 McKusick was among the first to advocate complete mapping of the human genome. The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The X chromosome is one of the two sex chromosomes in mammals (the other is the Y chromosome). ... Amish couple in a horse-drawn buggy in rural Holmes County, Ohio, the site of one of the largest concentrations of Amish in the United States The Amish are a denomination of Anabaptists, found primarily in the United States and Canada, noted for their restrictions on the use of modern... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... An autosomal dominant gene is an abnormal gene on one of the autosomal (non-sex determining) chromosomes. ...

McKusick's three catalogs -- of autosomal dominant, autosomal recessive, and X-linked phenotypes -- constituted MIM, a veritable "treasury of human inheritance." MIM went into its 12th edition in 2004. The internet version of MIM is known as Online Mendelian Inheritance in Man or OMIM. It is continuously updated and has been a key reference in the mapping of the human genome. The phenotype of an individual organism is either its total physical appearance and constitution or a specific manifestation of a trait, such as size or eye color, that varies between individuals. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The human genome is the genome of Homo sapiens. ...

In addition to his work in medical genetics, McKusick served as the William Osler Professor of Medicine and Physician-in-Chief of The Johns Hopkins Hospital from 1973 until 1985. He then became University Professor of Medical Genetics and remained actively involved in maintenance of the MIM catalogue. In 1988, McKusick was the founding president of the Human Genome Organization (HUGO), the organization behind the International Human Genome Project. 1988 (MCMLXXXVIII) was a leap year starting on a Friday of the Gregorian calendar. ... The Human Genome Organisation (HUGO) is an organization involved in the Human Genome Project, a project about mapping the human genome. ... The Human Genome Project (HGP) endeavored to map the human genome down to the nucleotide (or base pair) level and to identify all the genes present in it. ...

In 1997, he won one of the highest honors in American science, the Albert Lasker Special Achievement Award and in 2002 received the National Medal of Science from the President of the United States. In 1989 McKusick received a Sc.D. from Bates College. 1997 (MCMXCVII) is a common year starting on Wednesday of the Gregorian calendar. ... The Albert Lasker Special Achievement Award is one of the four Lasker Awards given by the Lasker Foundation for medical research in the United States. ... National Medal of Science The National Medal of Science, also called the Presidential Medal of Science, is an honor given by the President of the United States to individuals in science and engineering who have made important contributions to the advancement of knowledge in the fields of behavioral and social... Bates College is a private liberal arts college in Lewiston, Maine, in the United States. ...

He is married to Dr Anne McKusick, a rheumatologist. Rheumatology, a subspecialty of internal medicine, is devoted to the diagnosis and treatment of rheumatic diseases. ...

References

• McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders. Baltimore, MD: The Johns Hopkins University Press, 1998. ISBN 0801857422.
• Nature & Nurture; When It Comes to Twins, Sometimes It's Hard To Tell the Two apart (Washington Post Magazine article on identical twins, featuring Dr McKusick and his brother).

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External links

• The McKusick collection (personal papers)
• Bibliography of Victor A. McKusick
• Online Mendelian Inheritance in Man (to search OMIM)