Victor A. McKusick life and biography

Victor Almon McKusick, internist and medical geneticist, was University Professor of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital, Baltimore, MD, USA. He was the original author and, until his death, remained chief editor of Mendelian Inheritance in Man (MIM) and its online counterpart Online Mendelian Inheritance in Man (OMIM), a database of heritable diseases and genes.

He is widely regarded as the father of clinical medical genetics. McKusick also served as editor-in-chief of the journal Medicine.

In 1966, McKusick first published his catalogue of all known genes and genetic disorders, Mendelian Inheritance in Man (MIM). The 12th and final print edition was published in 1998. MIM has also been available full-text online and free of charge since 1987 as, Online Mendelian Inheritance in Man OMIM), a continually updated database linked with National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM) for distribution and has been part of the Entrez database network system since 1995. At the time of his death on 22 July 2008, OMIM had 18,847 entries.

McKusick was the founding president of the Human Genome Organization (HUGO) (1989). He founded (1960) and codirected the Annual Short Course in Medical and Experimental Mammalian Genetics, Jackson Laboratory, Bar Harbor, Maine, as well as the Annual Course in Medical Genetics, University of Bologna Residential Center, Bertinoro di Romagna, Italy (1987).

McKusick wrote widely throughout his career on the history of medicine, genetics, medical genetics, and Parkman, Maine. Many of his scientific works in medical genetics, cardiology, and internal medicine, specifically, Medical Genetic Studies of the Amish, Selected Papers Assembled with Commentary (1978); Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968); and A Synopsis of Clinical Auscultation, Being a Treatise on Cardiovascular and Respiratory Sound, Introduced by a Historical Survey, Illustrated by Sound Spectrograms (Spectral Phonocardiograms), and Supplemented by a Comprehensive Bibliography (1956), have become historical documents in themselves.

He wrote most widely, however, on the history of medical genetics, including many articles, addresses, and a book chapter. He had. as well, played a leading role in investigating whether Abraham Lincoln, 16th president of the United States, had Marfan syndrome. McKusick also was an active scholar on the life of Sir William Osler.

In a paper presented by M.I. Poling in 2005, McKusick was quoted: "I have always told my students, residents, and fellows, if you want to really get on top of some topic, you need to know how it got from where it was to how it is now. I was always strong on eponyms, too—like Marfan syndrome, Freeman-Sheldon syndrome, Down syndrome, Tay-Sachs disease, etc. On rounds, the resident or student would present a patient with some particular condition, and I would always ask, so who is so and so for whom the disease was named. This prompts thought and research into the disease or condition itself to find out who first described it and, therefore, for whom it was named."

McKusick was awarded the NAS Award for Scientific Reviewing from the National Academy of Sciences in 1982, and the Benjamin Franklin Medal for Distinguished Achievement in the Sciences of the American Philosophical Society in 1996. In 1997, he received the Albert Lasker Award for Achievement in Medical Science. In 2001, he received the National Medal of Science. Two years earlier, McKusick was honored by the Johns Hopkins School of Medicine with his name upon the McKusick-Nathans Institute of Genetic Medicine, along with Dr. Daniel Nathans.

In 1949, Victor married Anne Bishop McKusick, MD, Associate Professor of Medicine, Division of Rheumatology, Department of Medicine, Johns Hopkins Hospital (retired). The couple had two sons and a daughter. On April 23, 2008, McKusick became the sole recipient of the Japan Prize for Medical Genetics, which was awarded to him for his pioneering achievements in establishing the field of medical genetics.

On July 22, 2008, McKusick died of cancer at his home in Towson, MD, outside Baltimore, at the age of 86.

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