Knowra Victor A. McKusick Victor A. McKusick Victor A. McKusick (1921–2008) was an American physician and geneticist who helped establish medical genetics as a clinical discipline and founded the catalog of inherited human disorders now known as OMIM.
Medical genetics : The medical specialty concerned with diagnosing, managing, and preventing genetic disorders. McKusick helped make genetic diagnosis part of clinical medicine.
Marfan syndrome : A connective-tissue disorder commonly caused by pathogenic variants in FBN1 and affecting the skeleton, eyes, and cardiovascular system. McKusick’s study of this syndrome helped establish his reputation as a medical geneticist.
Alan E. H. Emery : A British physician and medical geneticist known for research and scholarship on inherited disorders. Emery collaborated with McKusick on influential writing about medical genetics.
Mendelian Inheritance in Man : A reference book first published by Victor A. McKusick in 1966, organizing inherited human disorders by Mendelian inheritance. This print work was the precursor to the online catalog associated with his legacy.
Online Mendelian Inheritance in Man : A continuously updated catalog of human genes and genetic disorders, developed from McKusick’s Mendelian Inheritance in Man. This catalog grew from the reference work he founded.
Ehlers–Danlos syndromes : A group of inherited connective-tissue disorders characterized by features such as joint hypermobility, skin extensibility, and tissue fragility. His research clarified the clinical classification of these inherited disorders.
Arno G. Motulsky : An American geneticist who helped establish medical genetics and pharmacogenetics. Motulsky was a contemporary whose work helped shape the field McKusick advanced.
Johns Hopkins Hospital : A teaching hospital in Baltimore, Maryland, affiliated with Johns Hopkins University. Its clinical environment gave McKusick access to patients whose inherited conditions he studied.
Human gene mapping : The process of locating genes on chromosomes using genetic, physical, or genomic evidence. McKusick promoted mapping genes through inherited disease patterns.
Polydactyly : A congenital condition in which a person has one or more extra fingers or toes. This visible inherited trait featured in McKusick’s work linking phenotype with genetic inheritance.
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