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The newspaper of The Johns Hopkins University July 6, 2004 | Vol. 33 No. 39
Colleagues, Friends Celebrate 'Father of Medical Genetics'

By Neil Grauer
Johns Hopkins Medicine

Colleagues and friends, including many former proteges and several Nobel laureates, have created the Victor A. McKusick Professorship in Medicine and Genetics at The Johns Hopkins University School of Medicine, honoring one of the institution's most renowned and beloved figures.

Harry C. "Hal" Dietz III, director of the William S. Smilow Center for Marfan Syndrome Research at Johns Hopkins and professor of pediatrics, medicine and molecular biology and genetics since 1992, was named last week as the first McKusick Professor of Medicine and Genetics. A member of the McKusick-Nathans Institute of Genetic Medicine and investigator of the Howard Hughes Medical Institute at Hopkins, Dietz has "followed in the footsteps of Victor McKusick by his seminal research and clinical studies" and is "internationally recognized for his scientific knowledge, clinical acumen and educational contributions," said Edward D. Miller, dean of the medical faculty.

Known around the world as the "father of medical genetics," Victor A. McKusick, 82, University Professor of Medical Genetics, has spent his entire 61-year career at Johns Hopkins, which he entered as a medical student in 1943.

Peers credit him with almost single-handedly introducing and demonstrating the importance of genetics in the practice of medicine. A key architect of the Human Genome Project and winner of the 2003 National Medal of Science, the nation's highest scientific prize, the 1997 Albert Lasker Award for Special Achievement in Medical Science and numerous other honors, he perhaps is best known for his multivolumed and now online compendium of genetic disorders and genetic factors in disease.

Formally titled Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes — and known worldwide as McKusick's Catalogue — the work first was published as a book in 1966 and now is in its 12th edition. Its continuously updated online version ( is considered an essential tool of the medical geneticist.

Lead donors to the endowment of $2.07 million creating the McKusick Professorship are Alan Greenberg, chairman of the executive committee of Bear Stearns, and his wife, Kathy. The Greenbergs also endowed Johns Hopkins' Greenberg Center for Skeletal Dysplasia, which studies dwarfism. Lily Safra, widow of internationally known banker Edmond J. Safra, also was among the 451 donors, as were several Nobel Prize-winning scientists, including McKusick's colleague at Hopkins, Peter Agre, winner of the 2003 Nobel Prize in chemistry. Cardiologist Stephen C. Achuff chaired the faculty's fundraising effort to honor McKusick, whose six decades at Hopkins may be the longest uninterrupted service of any faculty member in the School of Medicine's 119-year history. Achuff was one of the first chief residents to work under McKusick when he served as physician-in-chief of The Johns Hopkins Hospital.

As the William Osler Professor of Medicine, chairman of the Department of Medicine and physician-in-chief at the hospital from 1973 to 1985, McKusick developed close relationships with the hospital's house staff and, he says, "tried to foster their transition from medical student to physician, especially to physician-scientist." He is particularly gratified, he says, by the number of his former proteges who have contributed to the creation of the McKusick chair.

Born in 1921, in Parkman, Maine, McKusick and his identical twin, Vincent, grew up on a dairy farm. Their parents, both former teachers, made education a priority for their five children. Victor attended Tufts University from 1940 to 1943, when he entered the JHU School of Medicine without completing his bachelor's degree. After receiving his medical degree in 1946, he remained at Johns Hopkins to complete his internship and residency in internal medicine and training in cardiology.

Initially concentrating on the study of heart defects, McKusick found that his interest in cardiology led him to medical genetics. He became the first to describe the cluster of characteristics of Marfan syndrome, an inherited connective tissue disease characterized by unusually tall height, heart defects and several other abnormalities. Studying Marfan patients and those affected by other familial diseases triggered his interest in learning about single genes that result in multiple physical manifestations. He identified the chromosomes and genes responsible for many of these conditions.

Today, the importance of the links between various genes and disease is universally recognized, even among nonscientists. Finding a link between a particular gene and a disease now rarely makes headlines, reflecting the widespread acceptance of McKusick's fundamental approach to studying disease.

Hal Dietz's appointment to the McKusick chair is especially appropriate because he now is acknowledged as being the world's authority on Marfan syndrome, having conducted genomic mapping and research that has made diagnosis of the condition patient-specific and accurate. His investigations into possible therapeutic agents for deficiencies in the genetic protein fibrillin, which his research links to Marfan syndrome, has identified a promising target for therapy and brought great clarity to a clinical problem first identified by McKusick.

Dietz has applied his research into Marfan syndrome toward bettering the clinical management of these patients and those with other connective tissue disorders, thereby enabling Johns Hopkins to remain the international referral center for such individuals. He has received the Antoine Marfan Award from the National Marfan Foundation, has been appointed the foundation's professional director and is director of the William Smilow Center for Marfan Syndrome Research at Johns Hopkins.

In addition to his work on Marfan syndrome, Dietz is investigating genetic factors involved in defects of the arterial wall and the aorta, and he teaches and mentors graduate and medical students and clinical fellows. He is associate director of the Medical Genetics Fellowship Program and a member of the General Genetics Clinics of the McKusick-Nathans Institute of Genetic Medicine. His active participation in teaching and clinical arenas reflects his continuation of Victor McKusick's legacy.

McKusick says that having been involved with general medicine as chief of medicine at Hopkins, he is "keen on the professorship being in medicine and being devoted to encouraging genetics in adult medicine."


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