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
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
and molecular biology
and genetics since 1992, was named last week as the
first McKusick Professor of Medicine and Genetics. A member
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
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
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 (
www.ncbi.nlm.nih.gov/omim) 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
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
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."