Victor A. McKusick

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.[5] Although Tufts had an associated medical school, Victor was fascinated by Johns Hopkins and by its dedication to medical research, and chose to attend Hopkins Medical School instead.

During World War II The Johns Hopkins University School of Medicine could not fill its classes. Therefore, for the first time since the school's founding in 1893, the school temporarily discontinued requiring a baccalaureate degree for admission.[1] Victor applied during his sixth semester at Tufts, and began in the fall of 1942, as one of the first, of very few, who ever entered the school without a bachelor's degree. Victor never earned a baccalaureate degree, although he has been awarded over 20 honorary degrees.[6] He earned his Doctor of Medicine through an accelerated program in only three years.[5] He was offered the prestigious William Osler Internship in Internal Medicine at Johns Hopkins Hospital, and chose to remain at Hopkins for his residency.[1] 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.[2]

In 1956 McKusick traveled to Copenhagen to speak about the heritable disorders of connective tissue at the first international congress of human genetics. The meeting looms as the birthplace of the medical genetics field.[2] In the following decades, McKusick went on to head the Chronic Disease Clinic and created and chaired a new Division of Medical Genetics at Hopkins beginning in 1957. In 1973, he served as Physician-in-Chief, William Osler Professor of Medicine, and Chairman of the Department of Medicine at Johns Hopkins Hospital and School of Medicine.[7] McKusick resigned the appointments in 1985, but continued to teach, conduct research, and practice medicine in the Departments of Medicine and Medical Genetics. He held concurrent appointments as University Professor of Medical Genetics at the McKusick–Nathans Institute of Genetic Medicine, Professor of Medicine at the Johns Hopkins School of Medicine, Professor of Epidemiology at the Johns Hopkins Bloomberg School of Public Health, and Professor of Biology at Johns Hopkins University.[5] McKusick played a role in the development of the HeLa cell line that has been instrumental in biomedical research, although he did not reveal to the Lacks family all the details about subsequent blood draws which were for genotyping HeLa.[8][9] He held numerous faculty appointments while remaining at Johns Hopkins until his death in 2008.[1]

In 1960, McKusick founded and co-directed the Annual Short Course in Medical and Experimental Mammalian Genetics at the Jackson Laboratory in Bar Harbor, Maine.[2] He published Mendelian Inheritance in Man (MIM), which was the first published catalog of all known genes and genetic disorders, in 1966.[7] The complete text of MIM was made available online free of charge beginning in 1987, and titled Online Mendelian Inheritance in Man (OMIM).[2] The 12th and final print edition was published in 1998. The online database is continually updated, and linked with the National Center for Biotechnology Information.[5] OMIM is distributed through the National Library of Medicine, and has been a part of the Entrez database network system since 1995. At the time of McKusick's death, OMIM contained 18,847 entries. He also led the Annual Course in Medical Genetics at the University of Bologna Residential Center in Bertinoro di Romagna, Italy in 1987.[10] McKusick was founding president of the Human Genome Organization in 1989.[4]

McKusick wrote extensively on the history of medicine, genetics, medical genetics, and about Parkman, Maine. He co-founded Genomics in 1987 with Frank Ruddle, and served as an editor.[7] He led a Congressionally-chartered committee examining the ethics of testing Abraham Lincoln's tissue for the presence of Marfan syndrome genes.[11]

His well-known published articles include:

• Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man (1968)[12]
• The Anatomy of the Human Genome: a Neo-Vesalian Basis for Medicine in the 21st Century (2001)[13]
• "On lumpers and splitters, or the nosology of genetic disease."[14]

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.[3]

Victor McKusick taking a picture of an Amish child's hands during his study of 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.[15] 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).[15]

McKusick listed fifteen advantages to studying genetics among the Amish. Today, these fifteen reasons are argued to be true as well. McKusick's findings led many other researchers to study hereditary related diseases in the 1960s and 1970s. Other researchers and McKusick cite the Amish as working cooperatively with researchers to determine the reason for inherited diseases. McKusick published his official findings from working with the Amish in 1978, titled Medical Genetic Studies of the Amish.[15]