University Professor of Medical Genetics, Department of Medicine 
Director, Alan and Kathryn Greenberg Center for Skeletal Dysplasias
Director, Division of Medical Genetics, 1957-1975
Director, Department of Medicine and Physician-in-Chief, Johns Hopkins Hospital 1973-1985
M.D., The Johns Hopkins University, 1946
21 honorary degrees
Main Interests:
My interest in the comprehensive collation of information on human genes and genetic disorders is represented by Mendelian Inheritance in Man (and its online counterpart OMIM), to the upkeep of which I devote 3/4ths of my full-time schedule. I still see new patients with hereditary disease in consultation, particularly patients with heritable disorders of connective tissue, such as Marfan syndrome, Ehlers-Danlos syndrome, and skeletal dysplasias and follow-up on the course of patients that I have seen in the past. My involvement with the Amish, which was heavy in the past, is limited largely to consultation with others at Hopkins in the design of studies. My ongoing research in the history of Medical Genetics has taken the form of a long chapter in the Emery-Rimoin Principles and Practice of Medical Genetics and several biographical studies. I edit two journals, Medicine (founded in the year that I was born) and a newer journal, Genomics (founded by Frank Ruddle and me in 1987)
Research Interests:
- Comprehensive collation of information on human genes and genetic disorders
- Genetic disorders in the Amish
- History of Medical Genetics
Clinical Activities:
- Board Certification: American Board of Internal Medicine, American Board of Medical Genetics
- Clinical Interests: Heritable disorders of connective tissue, skeletal dysplasias
- Clinic:
Medical Genetics Clinic Johns Hopkins Outpatient Center (JHOC)
8th floor, Pediatric Specialty Clinics area
601 North Caroline Street
Baltimore, MD 21205
Phone: 410-955-3071 Fax: 410-614-9246
Educational Activities:
- Program Associate, Predoctoral Training Program in Human Genetics
- Preceptor, Medical Genetics Training Program
- Founder and Co-Director of the Annual Short Course in Medical and Experimental Mammalian Genetics, The Jackson Laboratory, Bar Harbor, Maine
- Preceptor, Genetics Section, Clinical Skills, Year II, Johns Hopkins Medical School
- Founder and Co-Director of European School of Medical Genetics, Sestri Levante and Bertinoro, Italy
Recognition and Leadership Roles:
- Allen Award of American Society of Human Genetics
- Benjamin Franklin Medal, American Philosophical Society
- James Murray Luck Award, National Academy of Science
- Kober Medal, American Association of Physicians
- Lasker Award for Lifetime Achievement in Medical Research
Publications:
- Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and mclanin spots of the oral mucosa, lips and digits. New Eng J Med 211:993-1005, 1031-1036, 1949.
- McKusick VA: Walter S Sutton and the physical basis of Mendelism. Med 34:487-497, 1960.
- McKusick VA: Marcella O?Grady Boveri (1865-1950) and the chromosome theory of cancer. J Med Genet 22:431-440 , 1985. Abstract
- McKusick VA: The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century. JAMA 286:2289-2295 , 2001. Abstract
Books:
- McKusick VA: Cardiovascular Sound in Health and Disease. Williams and Wilkins, Baltimore, 1958.
McKusick VA: Heritable Disorders of Connective Tissue (5th edition, 1993). CV Mosby, St. Louis, 1956. - McKusick VA (ed.): Medical Genetic Studies of the Amish.. Johns Hopkins University Press, Baltimore, 1978.
- McKusick VA: Mendelian Inheritance in Man, (12th edition, 1998, in 3 volumes; online version OMIM).. Johns Hopkins University Press, Baltimore, 1966.
- Temtamy SA and McKusick VA: The Genetics of Hand Malformations.. Alan R. Liss, New York, 1978.
Contact Information:
Victor A McKusick, MD
Johns Hopkins University School of Medicine
Institute of Genetic Medicine
600 North Wolfe Street
Blalock Building, Room 1007
Phone: (410) 955-6641
Fax: (410) 955-4999
E-Mail: mckusick@peas.welch.jhu.edu
