Victor A. McKusick, longtime University Professor of
Medical Genetics at the Johns Hopkins
School of Medicine, is the 2008 recipient of the
prestigious Japan Prize in medical genetics and
genomics, the Science and Technology Foundation of Japan
announced Jan. 16 in Tokyo.
The sole laureate in his category this year, McKusick,
widely renowned and lauded as the
"father of genetic medicine," will receive a medal and 50
million yen ($470,000) at a formal
presentation April 23 in Tokyo attended by the Japanese
emperor and empress and national
dignitaries.
Funded principally by the Matsushita Electric
Industrial Co., Ltd., the Japan Prize, now in its
24th year, is awarded to living individuals worldwide
"whose original and outstanding achievements in
science and technology are recognized as having advanced
the frontiers of knowledge and served the
cause of peace and prosperity for mankind," according to
the foundation's description.
"I am deeply appreciative and grateful for this
wonderful honor," said McKusick, for whom the
McKusick-Nathans Institute of Genetic Medicine at Johns
Hopkins was named in 1999. "In my view, it
also honors the contributions and support of Johns Hopkins,
and of my colleagues and students over
many decades."
"Johns Hopkins has been the proud beneficiary of
Victor McKusick's pioneering talents and
devotion to the advancement of science and human health for
60-plus years," noted Edward D. Miller,
dean of the medical faculty and CEO of Johns Hopkins
Medicine. "He is indeed a Hopkins legend, and it
is an honor for all of us to have known him as a clinician,
scientist, teacher and colleague."
David Valle, the Henry J. Knott Professor and Director
of the McKusick-Nathans Institute of
Genetic Medicine, hailed the award as "an outstanding,
much-welcomed and highly deserved
recognition" of McKusick's seminal contributions to medical
genetics.
Americans Vinton Cerf and Robert Kahn, generally
credited with pioneering the Internet, will
share the prize in the information communication theory and
technology category. Interestingly,
perhaps, the transfer to the Internet of McKusick's
signature scientific work, Mendelian Inheritance
in Man, made McKusick one of the earlier users of that
communication technology.
Two fields of science are designated each year for the
prize, which is celebrated during Japan
Prize Week with lectures, academic seminars and galas in
the island nation.
A native of Parkman, Maine, Victor Almon McKusick, now
86, grew up on a dairy farm with his
identical twin, Vincent, and three other siblings. Their
parents, who were teachers, are credited with
instilling education as a priority, and Victor attended
Tufts University for three years before
entering the Johns Hopkins School of Medicine in 1943
without finishing his bachelor's degree.
He has spent his entire career at Johns Hopkins,
completing internship and residency in internal
medicine and training as a cardiologist with an interest in
the study of heart sounds and murmurs
(later published as a classic text, Cardiovascular Sound
in Health and Disease) and also of heart
defects.
He was led to the then-budding field of genetics when
he became the first to describe the
cluster of characteristics of Marfan syndrome, an inherited
connective tissue disease marked by
unusually tall height, heart defects and other
abnormalities. His studies of inherited disorders in the
Amish uncovered previously unrecognized, inherited
conditions and served as a model for studies in
similarly isolated populations elsewhere.
Studying these patients and those affected by other
familial disorders triggered his
determination to identify and catalog genes and chromosomes
that result in multiple physical
conditions, and peers around the world credit him with
almost single-handedly introducing the
incorporation of genetics into the practice of medicine.
In 1966, he first published his master compendium of
disorders and genetic factors in disease,
formally titled Mendelian Inheritance in Man: Catalogs
of Autosomal Dominant, Autosomal Recessive
and X-Linked Phenotypes. Now known as OMIM
(Online Mendelian Inheritance in Man) or simply "the
Catalog," it is continually updated online at
www.ncbi.nlm.nih.gov/omim and is considered a bible for
medical geneticists around the globe.
A key architect of the Human Genome Project and winner
of the 2001 National Medal of
Science, the United States' highest scientific prize,
McKusick is also the recipient of the 1997 Albert
Lasker Award for Achievement in Medical Science and
numerous other awards and honorary degrees.
He was the co-founder of a course in experimental and human
genetics, now in its 49th year, held at
the Jackson Laboratory in Bar Harbor, Maine, and is widely
credited with training generations of
genetic medicine practitioners and scholars.
In 2004, more than 450 donors, including Nobel
laureates, contributed funds to establish the
Victor A. McKusick Professorship in Medical Genetics at
Johns Hopkins.
McKusick's six decades at Johns Hopkins constitute the
longest uninterrupted service of any
faculty member since the school opened in 1893. During his
tenure, he served from 1973 to 1985 as
the William Osler Professor of Medicine, chairman of the
Department of Medicine and physician in
chief at The Johns Hopkins Hospital. He retired last month
and is now professor emeritus.
Among those who will accompany McKusick to Tokyo in
April are his wife, Anne McKusick, and
their two sons; his twin, Vincent; and Valle.
Previous winners of the Japan Prize with Johns Hopkins
connections were immunologist
Kimishiga Ishizaka, a faculty member in the Department of
Medicine from 1970 to 1989, who won the
prize in 2000; and D.A. Henderson, former dean of the Johns
Hopkins Bloomberg School of Public
Health, who won the prize in 1988.
Further information on the Japan Prize can be found at
www.japanprize.jp/prize/prize_e1.htm.
Further information on the McKusick-Nathans Institute of
Genetic Medicine can be found at
www.hopkinsmedicine.org/geneticmedicine.