Victor A. McKusick

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Victor Almon McKusick (born October 21, 1921), internist and medical geneticist, is University Professor of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital, Baltimore, MD, USA. He is the original author and remains 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 currently also serves as editor-in-chief of the journal Medicine.

[edit] Biography

Victor and his identical twin Vincent L. McKusick, LL. B, were born on October 21, 1921, two of five children. His father was a graduate of Bates College, a small liberal arts college in Maine, where he was a Phi Beta Kappa. Before he decided he wanted to become a dairy farmer, his father was a high school principal at Chester, Vermont for nine years. The McKusick family was raised on a dairy farm in Parkman, Maine. Victor's mother was a grammar school teacher before they were married.

During the summer of 1937, Victor suffered a severe microaerophilic Streptococcus infection in his axilla (armpit). Resulting time spent in two hospitals, in Maine (one week) and at Massachusetts General Hospital, Boston, Massachusetts (ten weeks), finally saw a successful diagnosis and course of treatment, using sulfanilamide (which had only been introduced a year earlier). Prior to these events, McKusick had seriously planned to go into the ministry. Having no doctors in the family and only their local general practitioner as a role model, the events of 1937 represent McKusick's first substantial experiences with the medical community. From what he observed during his illness, he concluded, "I decided I liked what doctors did… I decided I wanted to join them."

After high school, to avoid having to compete with each other for scholarships, the twins parted. For his undergraduate work, Vincent followed the family tradition of studying at Bates. Victor was enrolled at Tufts University from the fall of 1940 to the summer of 1942, his sixth semester of undergraduate study. Although Tufts had a medical school associated with it, a secondary reason why he had chosen to study there, Victor's attention had been directed to Johns Hopkins by a 1939 Time magazine article on the "Big Four" of Johns Hopkins Medicine, Welch, who the article was primarily about, William Osler, Kelly, and Halsted.

The whole aura of Hopkins was very exciting to him, and, with World War II going on, the Johns Hopkins University School of Medicine could not fill its classes. Hopkins, therefore, temporarily discontinued its requirement of a baccalaureate degree as a prerequisite for admission, which had been in place since the school's founding, in 1893. Victor applied and was accepted in his sixth semester at Tufts and began, in the fall of 1942, as one of the first of a very few who ever entered the Johns Hopkins University School of Medicine in this manner. Furthermore, despite numerous honorary doctorate degrees, Victor has never earned a baccalaureate degree. According to McKusick, “We were church going, a very religious family. My family was, of course, very intellectual, and this encouraged an intellectual approach to medicine.”

After medical school, McKusick planned to return to Maine and practice medicine as a general practitioner (GP), but he was chosen for the prestigious William Osler Internship in Internal Medicine. In the next decades, McKusick went on to head the Chronic Disease Clinic and create and chair a new Division of Medical Genetics, which represented a new branch of clinical medicine (1957-1973). He subsequently served as one of the successors of Osler as the Physician-in-Chief of the Johns Hopkins Hospital and was the William Osler Professor of Medicine and Chairman of the Department of Medicine (1973-1985).

Since 1985, McKusick has taught, conducted research at the university, and practiced medicine in the Departments of Medicine and Medical Genetics, holding nemerous faculty appointments and remaining the entire time at Johns Hopkins. He holds current university appointments as University Professor of Medical Genetics, McKusick-Nathans Institute of Genetic Medicine, Department of Medical Genetics, Johns Hopkins Hospital; Professor of Medicine, Department of Medicine, Johns Hopkins Hospital; Professor of Epidemiology, Johns Hopkins University School of Hygiene and Public Health; and Professor of Biology, Johns Hopkins University. He currently edits two journals: Genomics, which he cofounded in 1987 with Frank Ruddle, and MEDICINE, which was founded the year he was born.

In 1966, McKusick first published his catalogue of all known genes and genetic disorders, Mendelian Inheritance in Man (MIM). Now in its 12th edition (1998), MIM has also available free full-text online 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 is part of the Entrez database network system since 1995. As of 1 October 2001]], OMIM had 13,005 enteries. McKusick was the founding president of the Human Genome Organization (HUGO) (1989). He founded (1960) and codirects 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 has written 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 Genetics 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 has written most widely, however, on the history of medical genetics, including many articles, addresses, and a book chapter. He has as well played a leading role in investigating whether Abraham Lincoln, 16th president of the USA had Marfan syndrome. He also is an active scholar on William Osler.

In a paper presented (Poling, 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, […et cetera]. 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 received the 2001 National Medal of Science. In 1999, he was honored by Johns Hopkins School of Medicine with his name upon the McKusick-Nathans Institute of Genetic Medicine along with Daniel Nathans.

He married (1949) Anne B. McKusick, MD, Associate Professor of Medicine, Division of Rheumatology, Department of Medicine, Johns Hopkins Hospital (retired). The McKusicks currently reside outside of Baltimore, MD, USA. On 23 April 2008, McKusick was the sole recipitant of the Japan Prize for Medical Genetics, which was awarded to him for the establishment and development of the field of medical genetics.

[edit] References

• "Victor McKusick." Genetics. 4 vols. Macmillan Reference USA, 2003. Reproduced in Biography Resource Center. Farmington Hills, Mich.: Thomson Gale. 2005.
• Klung, W.S., and M.R. Cummings, Essentials of Genetics (5th ed.), Upper Saddle River; NJ: Pearson Education, Inc., Prentice Hall, 2005, 10.
• "Victor A. McKusick." World of Genetics. 2 vols. Gale Group, 2001. Reproduced in Biography Resource Center. Farmington Hills, Mich.: Thomson Gale. 2005.
• Poling, M.I. "Medical Humanism: A Perpetuation of Appalachian Values" (Diss., West Virginia Wesleyan College, 2004), 12.
• Poling, M.I. "Victor Almon McKusick, the Analytical Historicist: a Contradiction in Terms" (Diss., West Virginia Wesleyan College, 2005), 2-5, 7-8.
• Poling, M.I. "The Philosophy of History: A Case Comparison and Rationale for Great Man Theory and for the History of Medicine in Mainstream History" (Diss., West Virginia Wesleyan College, 2006), 2-4, 6.
• Woods M. “Lincoln's Health Draws Scrutiny,” (Tuesday, July 25, 2000, Bar Harbour: Post-Gazette National Bureau).
• The Editors. "Genomics as it Enters its Second Decade", (Genomics. 45:243, 1997).
• The Editors. [No title], (Genomics, 55:1, 1999).
• The Editors. "Genomics: an Established Discipline, a Commonly Used Name, a Mature Journal", (Genomics. 31:1-2,1996).
• McKusick, V. A. “Structural and Functional Studies of Genomes,” (Genomics. 45: 444-449, 1997).
• Crow, E. W., and J. F. Crow. “100 Years Ago: Walter Sutton and the Chromosome Theory of Heredity,” (Genetics 160:1-4, 2002).
• Wheelwright, J. “Reading the Language of Our Ancestors: Getting Up to Speed on Medical Genetics Through the Vision of Victor McKusick.” (Discover. 70-77, 2002).
• [no author]. “The Gene Doctor Is In: The Physician Who Has Written the Book Linking Genes to Disease Explains How the Next Wave of Genetic Research Will Affect Our Lives.” (Technology Review. 46-52, 1997).
• McKusick, V. A. “Medical Genetics: A 40-Year Perspective on the Evolution of a Medical Specialty from a Basic Science,” (Journal of the American Medical Association, 270:2351-2356, 1993).
• McKusick, V. A. Medical Genetics Studies of the Amish: Selected Papers, Assembled with Commentary, (Baltimore: Johns Hopkins University Press, 1978).
• Donahue, R. P.; Bias, W. B.; Renwick, J. H.; McKusick, V. A. "Probable Assignment of the Duffy Blood Group Locus to Chromosome 1 in Man, Proceedings of the National Academy of Sciences of the United States of America", (61(3): 949-955, 1968).
• McKusick, V. A. A Synopsis of Clinical Auscultation, Being a Treatise on Cardiovascular and Respiratory Sound, Introduced by an Historical Survey, Illustrated by Sound Spectrograms (Spectral Phonocardiograms), and Supplemented by a Comprehensive Bibliography. Privately printed and bound, in limited numbers, (Baltimore: Jan. l, l956).
• Harvey, A. M., and V. A. McKusick. Osler's Textbook Revisited: A Reprint of Selected Sections with Commentaries, (New York: Appleton-Century-Crofts, l967).
• McKusick, V. A. “Biographical Memoirs: A. McGehee Harvey (30 July 1911-8 May 1998),” (Proceedings of the American Philosophical Society. 144:85-94, 2000).
• McKusick, V. A. “Marcella O’Grady Boveri (1865-1950) and the Chromosome Theory of Cancer,” (Journal of Medical Genetics. 22: 431-440, 1985).
• McKusick, V. A. “The Anatomy of the Human Genome: a Neo-Vesalian Basis for Medicine in the 21st Century,” (Journal of the American Medical Association. 286(18):2289-2295, 2001).
• McKusick, V. A. “Osler as a Medical Geneticist,” (Johns Hopkins Medical Journal. 139(4):163-174, 1976).
• McKusick, V. A. “Mapping the Human Genome: Retrospective, Perspective and Prospective,” (Proceedings of the American Philosophical Society. 141(4):417-424, 1997).
• McKusick, V. A. “The Human Genome Project: Status, Prospects, and Implications for Ethics, Society, and the Law,” (Presented at: 7th International Association of Catholic Medical Schools, Santiago, Chile. Jan. 1994).
• McKusick, V. A. “Presidential Address, Eighth International Congress of Human Genetics: Human Genetics: the Last 35 Years, the Present, and the Future,” (American Journal of Human Genetics. 50: 663-70, 1992).
• McKusick, V. A. “Medical Genetics at Johns Hopkins: Past, Present and Future,” (31 January 1994).
• Peltonen, L. and V. A. McKusick. “Dissecting Human Disease in the Post-Genomic Era,” (Science. 29:1224-1229, 2001).

[edit] External links

• The McKusick collection (personal papers)
• Ronzano Project, The European Genetics Foundation Victor A. McKusick
• 1995 Mendel Award Winner (bio)
• 1997 Lasker Award Winner for Special Achievement in Medicine (interview, CV, complete bib., and more)
• 2002 National Medal of Science (bio and links)
• Online Mendelian Inheritance in Man (to search OMIM)