Victor A. McKusick

Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore.

During the summer of 1937, Victor suffered a severe microaerophilic Streptococcus infection in his axilla.

Medical career

Education After high school, Victor chose to study at Tufts University, and studied there for six semesters from the fall of 1940 to the summer of 1942. He earned his Doctor of Medicine through an accelerated program in only three years. He completed his residency training as a cardiologist, since the department of genetics did not exist at the time. McKusick specialized in heart murmurs, and utilized spectroscopy to analyze heart sounds. He held numerous faculty appointments while remaining at Johns Hopkins until his death in 2008. The complete text of MIM was made available online free of charge beginning in 1987, and titled Online Mendelian Inheritance in Man (OMIM). McKusick was founding president of the Human Genome Organization in 1989.

His well-known published articles include: Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968) The Anatomy of the Human Genome: a Neo-Vesalian Basis for Medicine in the 21st Century (2001) "On lumpers and splitters, or the nosology of genetic disease."

In a 2005 paper presented by M.I. Poling, McKusick said:

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.

Victor McKusick taking a picture of an Amish child's hands during his study of the Amish.

Study of genes among the Amish McKusick's study of genetics among the Amish is perhaps his most famous research. On his first trip to Amish homes, he was accompanied by David Krusen who had an extensive medical practice among the Amish in Lancaster, Pennsylvania. McKusick spoke about his introduction to Krusen's work, stating, "He [Krusen] indicated to the author of the article—in a slick-paper, pharmaceutical company 'throw-away'—that achondroplasia is frequent among the Amish. Initial study led to the identification of two recessive conditions named Ellis–van Creveld syndrome and cartilage-hair hypoplasia (later named metaphyseal chondrodysplasia, McKusick type). the American Philosophical Society, and the American Academy of Arts and Sciences.

Some of the awards he won are listed below: Gairdner International Award from The Gairdner Foundation in 1977. William Allan Award from The American Society of Human Genetics in 1977. NAS Award for Scientific Reviewing from the National Academy of Sciences in 1982. George M. Kober Medal from the Association of American Physicians in 1990. Benjamin Franklin Medal for Distinguished Achievement in the Sciences from the American Philosophical Society in 1996. Albert Lasker Award for Special Achievement in Medical Science from The Lasker Foundation in 1997. Japan Prize for Medical Genetics, for pioneering the field of medical genetics, in 2008 from The Japan Prize Foundation. McKusick–Nathans Institute of Genetic Medicine at Johns Hopkins Hospital named after McKusick and fellow distinguished geneticist Daniel Nathans.

Death McKusick died of cancer at the age of 86, on July 22, 2008.