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Victor Almon McKusick was born in Parkman, Maine. He attended Tufts University and the Johns Hopkins University School of Medicine, receiving his M.D. in 1946. After he joined the faculty of the School of Medicine in 1946 as a cardiologist, McKusick began studying Marfan syndrome and became interested in the field of medical genetics. He continued to make contributions to cardiology, such as adapting sound spectroscopy for analysis of heart sounds and publishing a unique catalog of heart sounds and murmurs in 1958.

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McKusick has played a large part in introducing the field of medical genetics into the mainstream of academic medicine. He studied the whole range of inherited human disorders, then concentrated on mapping the location of genes on chromosomes and relating gene location to human disease. In 1966, he published the first edition of Mendelian Inheritance in Man (known as OMIM in its present online version), the definitive source of information on human genes and genetic disorders. He was founding president of the Human Genome Organization (HUGO) in 1988, an international group whose goal is to promote mapping and sequencing of the entire human genome. In 1997, McKusick received the Albert Lasker Award for Special Achievement in Medical Science.

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Scope and Content

The Victor Almon McKusick Collection spans his entire career at Johns Hopkins. It documents his various activities as clinician, researcher, teacher, and administrator. The collection includes professional correspondence, research data, photographs, lecture notes, financial records, student records, reprints, manuscripts, audio tapes, committee minutes, patient records, slides, diplomas, and awards. Also included are family papers, including biographical information, undergraduate notes, and transcripts of interviews with McKusick and family members.

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Profiles in Science exhibit on Victor McKusick at National Library of Medicine

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