Victor Almon McKusick, University Professor of Medical
Genetics at the Johns Hopkins
University School of Medicine; one of the two distinguished
Johns Hopkins geneticists for whom the McKusick-Nathans Institute of Genetic
Medicine was named; and a towering international figure
in genetics research, diagnosis and treatment, died July 22
at the age of 86.
The relentlessly energetic clinician/scholar, a
pioneer in the pursuit of the links between
inheritance and disease, died at home of complications due
to cancer.
McKusick had long been honored by the world scientific
community as a founding father of
medical genetics as a specialty, and as a memorable mentor
of generations of faculty, fellows,
residents and students numbering in the thousands. Showered
with scores of national and
international prizes, honorary doctorates and accolades
during a professional career spanning more
than 60 years spent entirely at Johns Hopkins, he was the
recipient of the 1997 Albert Lasker Award
for Special Achievement in Medical Science, 2001 National
Medal of Science and 2008 Japan Prize in
Medical Genomics and Genetics. He was the founding
president of the Human Genome Organization
and a member of the National Academy of Sciences.
"We have lost a giant," said Edward D. Miller, dean of
the medical faculty and chief executive
officer of Johns Hopkins Medicine. "He spent virtually all
of his incredible career at Hopkins, but his
influence and legacy reach around the world."
"Victor McKusick was a superb scholar in many fields
of medicine," said Richard Starr Ross,
dean emeritus of the School of Medicine. "His achievements
have added great luster to Johns
Hopkins."
Elevated to the rank of full professor in 1960 and
elected to the National Academy in 1973,
McKusick astonished countless students, patients and
colleagues with his prodigious memory for
clinical and scientific details and drew praise as an avid
historian of the field he helped to define.
McKusick came to Johns Hopkins as a medical student in
1943 and stayed to complete his
internship and residency in internal medicine. He served as
executive chief of the cardiovascular unit
at Baltimore Marine Hospital from 1948 to 1950 while
progressing through the ranks in the Johns
Hopkins Department of Medicine. In 1957, he founded the
Division of Medical Genetics, which he
headed until 1973, when he became the William Osler
Professor and chairman of the Department of
Medicine and physician in chief of The Johns Hopkins
Hospital. He held these posts until 1985, when
he was named University Professor of Medical Genetics.
He also held joint appointments in
epidemiology in the Bloomberg School of Public Health
and in
biology in the Krieger School of Arts and Sciences.
In 2000, the university awarded him an honorary
doctorate.
Spry and serious, but with an almost jolly sense of
humor, McKusick remained active until last
year in his role as University Professor of Medical
Genetics, making frequent trips to his campus
office. At least once a year for decades, residents,
medical students and even faculty and staff could
be seen following him at a quick pace up the narrow winding
stairs to the catwalk of the hospital's
iconic dome. It was there that he invited them to share the
view and concluded his famous mini-history of the
institution he loved.
For a taste of his tour, go to:
www.jhu.edu/~gazette/2001/jun1101/11scene.html.
Drawn initially to cardiology, McKusick detoured early
in his career into a deepening study of a
relatively rare inherited disorder known as Marfan
syndrome, which is marked by heart defects,
unusually tall stature and other abnormalities. His
fascination with this disorder started with one tall
patient with a dangerous weakening of the aorta and a
detached retina.
Soon after making that first diagnostic recognition of
the complex group of symptoms linked to
a single inherited gene, he was sought out by other Marfan
patients and began to keep his hallmark
meticulous records of the inheritance patterns and clinical
features of the syndrome as well as other
diseases that ran in families.
That path would capture his full-time devotion as he
went on to examine populations with
relatively isolated gene pools, such as the Old Order Amish
of Pennsylvania, sensitively but formidably
using their medical and genetic histories as a way to
identify the genes responsible for their inherited
physical abnormalities and disorders.
Throughout the next several decades, McKusick led the
world in searching for, mapping and
identifying genes responsible for thousands of inherited
conditions, including Duchenne muscular
dystrophy, achondroplasia and many other forms of dwarfism.
He showed by example — through careful
record keeping and an unmatched enthusiasm in following
inheritance patterns — that understanding
the genetics behind so-called Mendelian or single-gene
diseases could lead to new methods of
classifying disease and to their diagnosis and treatment.
His pioneering work in Marfan syndrome set
the foundation for others at Johns Hopkins and elsewhere
who have identified not only the molecular
players in those genes but also successful treatments.
"Dr. McKusick was passionate about all things medical
and genetic. His enormous abilities and
energies in these areas created an entire field and served,
and will continue to serve, as a model for
all of us interested in genetics and medicine," said David
Valle, the Henry J. Knott Professor and
Director of the McKusick-Nathans Institute of Genetic
Medicine. "He was a force in our field and a
great colleague and friend. We will miss him tremendously
but will carry on as he would want us to do."
"While I will miss Dr. McKusick deeply, I feel his
tangible presence in my clinic and in my lab on
a daily basis," said Harry C. "Hal" Dietz III, the Victor
A. McKusick Professor of Genetics and
Medicine and director of the William S. Smilow Center for
Marfan Syndrome Research at Johns
Hopkins. "His legacy to medicine is so pervasive, even
fundamental, that it will be difficult to pinpoint
but impossible to avoid."
An early proponent of completely mapping the human
genome, McKusick in 1966 created the
first edition of his now classic reference work, Mendelian
Inheritance in Man, an ever-enlarging
compilation of inherited disease genes. Now in its 12th
edition and consisting of three volumes, the
seminal reference also exists as OMIM, Online Mendelian
Inheritance in Man, a continuously updated
Internet version that provides a searchable database of
disease genes' locations and characteristics.
In 1969, McKusick was one of the first to propose the
human genome map, whose sequence was
published in February 2001.
Today, the importance of recognizing and understanding
the links between various genes and
diseases almost goes without saying in many circles,
including among nonscientists. Indeed, finding a
gene, and frequently even linking it to a disease, no
longer makes headlines, reflecting the widespread
acceptance of McKusick's fundamental approach to studying
disease.
Reflecting on his colleague's legacy, Myron L.
Weisfeldt, the William Osler Professor of
Medicine and director of the Department of Medicine at
Johns Hopkins, said, "Dr. McKusick has had
as great an impact on medicine and [on] Johns Hopkins. His
lifelong creative genius in his early days
advanced cardiovascular medicine. He then discovered
numerous genetic diseases and formulated
information that led to identification of their genetic
cause and, for many, their treatment. I doubt
that anyone would have conceived of the Human Genome
Project if he had not shined the light on the
value of genetics in so many human conditions.
"He was an undying advocate of the Johns Hopkins
spirit, principles and history," Weisfeldt
said. "I was one of his many mentees who valued his
support."
Inevitably, McKusick's growing interest in genetics
led him to explore using experimental
scientists' favorite human substitute — the mouse
— in studies that could not be done in people. In
1960,
he co-founded the highly regarded Short Course in Medical
and Experimental Mammalian Genetics,
held in conjunction with the Jackson Laboratory in Bar
Harbor, Maine, an internationally recognized
center of excellence in mouse genetics. Because mice and
humans share similar development and
physiology, and because of the power of mouse genetics,
McKusick was among the earliest human
geneticists to recognize the value of the mouse as a model
for understanding human disease, and he
championed joint studies between scientists in both fields.
He was a co-director of the Short Course
for 49 years and at the time of his death was busy planning
the 50th session.
With faculty members from Johns Hopkins, the Jackson
Laboratory and other institutions
around the world, the Short Course has, over the years,
played a key role in training more than 4,000
aspiring medical geneticists. Additionally, hundreds of
medical journalists have participated in another
of McKusick's innovations, Press Week at the annual Short
Course, resulting in more informed stories
on the latest developments in the understanding of genetics
in health and disease.
"Victor McKusick's seminal contributions in genetics,
medicine and education have simply become
synonymous with excellence in biomedicine," said Richard P.
Woychik, president and chief executive
officer of the Jackson Laboratory. "His involvement with
the Jackson Laboratory over the past 50
years in co-organizing the Short Course in Experimental and
Mammalian Genetics is a reflection of his
intense commitment to help thousands of students,
scientists and physicians learn and put into
practice the remarkable power of genetics for understanding
human disease."
Born Oct. 21, 1921, in Parkman, Maine, McKusick and
his identical twin, Vincent, grew up on a
dairy farm in Maine. Both parents had been teachers and
made education a priority for their five
children. Victor McKusick attended Tufts University from
1940 to 1943, when he entered the Johns
Hopkins University School of Medicine without completing
his bachelor's degree. In 1949, he married
fellow physician Anne Bishop, who remains a part-time
assistant professor in Johns Hopkins' Division
of Rheumatology.
Among McKusick's many honors are the John Phillips
Award of the American College of
Physicians for distinguished contributions in internal
medicine (1972), Gaidner International Award
(1977), William A. Allan Award of the American Society of
Human Genetics (1977), James Murray
Luck Award from the National Academy of Sciences (1982) and
Sanremo International Prize for
Genetic Research (1983). He was inducted into the
International Pediatrics Hall of Fame (1987) and
received the Passano Award (1989) and American Association
of Physicians' George M. Kober Medal
(1990). More recently, McKusick was honored with the Ellen
Browning Scripps Medal and John P.
McGovern Compleat Physician Award. McKusick also served in
distinguished positions on numerous
advisory and editorial boards and within professional
organizations.
In addition to his wife, McKusick is survived by the
couple's three children, Carol Anne McKusick
of Urbana, Ill., Kenneth Andrew McKusick of Ruxton, Md.,
and Rev. Victor Wayne McKusick of
Herkimer, N.Y.; and his twin, a retired chief justice of
the Supreme Court of Maine.
A memorial service was held Aug. 2 at the Second
Presbyterian Church of Baltimore. Interment will be at 11
a.m. on Friday, Aug. 8, at Pingree Cemetery in Parkman,
Maine.
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