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.
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). 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. == Awards and honors ==