American Medicine suffered a great loss when Victor A. McKusick died peacefully on July 22, 2008 at his apartment in Baltimore with his wife, Anne Bishop McKusick, at his side. On the day before he died, although fatigued, he watched via the internet the proceeding of the Bar Harbor Course in Medical Genetics, which he co-founded and directed since 1960. Earlier that day, he also described to one of us (Dr. Weisfeldt) in great detail the events surrounding the Award Ceremony for the $500,000 Japan Prize in Medical Genomics and Genetics that he received from the Emperor of Japan in April, 2008. Dr. McKusick was a member of the ACCA since 1972 and presented the Jeremiah Metzger Lecture to the membership in 1975.
McKusick is internationally recognized for his pioneering role in the establishment of Medical and Human Genetics as perhaps the most influential and important area of medical science to emerge in the past century. This achievement ranks with those of Osler in the application of science broadly to human disease.
When McKusick was under consideration for the Osler Professorship there were those who thought he had become too involved with the esoterica of medicine. There was concern about his ability to direct a training program in general internal medicine. He laid this doubt to rest by quickly resurrecting his skills acquired as an Osler resident and became a superb Chairman. As Chairman of the Department of Medicine and the Osler Professor from 1973 to 1985 at Johns Hopkins he reached a level of academic contribution, mentoring and creative leadership that endeared him to students of medicine at all levels. Many of these students emulate but certainly do not equal his remarkable contributions. Within Hopkins circles, his encyclopedic knowledge of details of medical and Hopkins history was always present at social and medical settings. He felt an obligation to spread knowledge of Hopkins’ history to the younger generation. To accomplish this purpose, he took new students and house officers on tours to the top of the Dome on the top of the Hospital.
Similar to Osler, his devotion to training young physicians was lifelong. To maintain the high educational standards of the Osler training program during an era of enlarging housestaff and increasing faculty demands, he conceived and created the Osler Firm System that persists to this day. He was the designer of the Osler Aequanimitas necktie worn every Friday by those who have received training on the Osler housestaff. The necktie contributed to the cohesiveness of the ever expanding service. As he told every group of new interns until this year during their orientation to Hopkins history, the Firms are named after the four chiefs of medicine after Osler: Barker, Thayer, Janeway, and Longcope.
Victor McKusick was born in 1921 in Parkman, Maine the twin son of two educators who placed scholarship as the highest value for their 5 children. He attended Tufts University for 3 years without earning a degree and then entered Johns Hopkins School of Medicine. From that point he never left Hopkins. After internship and residency and two years service at the Baltimore Marine Hospital, he joined the Hopkins faculty, rising to Professor of Medicine in 1960 at age 39.
During his early years on the Hopkins faculty, McKusick was recognized as one who was always working. He carried small bound notebooks in which he noted the ideas for future studies. He had an unparalleled ability to concentrate. He also had the ability to arise before dawn and to work productively in the early morning. He never wasted any time. He was a superb writer and editor who wrote rapidly and well.
He studied cardiovascular sound employing a technique he invented called spectrophonocardiography. These studies are summarized in his first book entitled, “Cardiovascular Sound in Health and Disease.” This book, published in 1958, marked the end of his cardiovascular era.
While engaged in the studies of cardiovascular sound he developed an interest in diseases of connective tissue which had a heritable basis. Initially, he pursued this interest largely through contacts he established with the Amish community in Southern Pennsylvania. These new efforts and interests were reflected in the publication of the first of numerous editions of the book “Heritable Disorders of Connective Tissue” in 1956. Subsequent editions were published in 1960, ’66, ’72, and ’93. As his focus shifted toward genetics as such, his first book “Medical Genetics 1958–1960” was published in 1961. McKusick founded the Division of Medical Genetics within the Department of Medicine at Johns Hopkins in 1957, and took over the Moore Clinic leadership at the same time. This was a clinic founded to deal with sexually transmitted diseases, but was diverted by McKusick into being the core of a research outpatient unit in connective tissue diseases and medical genetics. McKusick continued in these two major positions until 1973 when he assumed the William Osler Professorship and directorship for the Department of Medicine and Physician-in-Chief in the Johns Hopkins Hospital. In 1975 he named Dr. Weisfeldt to be Division Chief in Cardiology at age 35. In 1985, after his illustrious tenure as chair of the department, he became University Professor of Medical Genetics.
Reflecting Victor McKusick's place at Johns Hopkins and internationally, in 1999 Johns Hopkins established a new Institute of Genetic Medicine. Most appropriately, it was named the McKusick-Nathans Institute of Genetic Medicine. Dan Nathans received the Nobel Prize for restriction enzymes and was for a brief period President of Johns Hopkins University. The McKusick-Nathans Institute of Genetic Medicine is now a growing and vibrant home for faculty committed to utilizing genetic approaches to increase basic knowledge and improve human health.
Dr. McKusick was a member of an extraordinary number of honorific scholarly and/or professional societies. Early on he was elected to Phi Beta Kappa and Alpha Omega Alpha. He served as Vice President of the American Society for Clinical Investigation. He was awarded the Kober Medal of the Association of American Physicians in 1990. He was President of the American Society for Human Genetics and a lifetime member of the American Genetic Association. As well, he was an honorary lifetime member of the “Little People of America.” Most importantly, he was elected to the National Academy of Sciences in 1973, and received the James Murray Luck Award from that Society in 1982. He was a fellow of the Royal College of Physicians of London and a Corresponding Member of the l’Academie Nationale de Medecine in France and a Member of the American Philosophical Society. In 1996, he received the Benjamin Franklin Medal, and in 1988 was elected to Fellowship in the American Academy of Arts and Sciences. In 1993, he was elected to the Institute of Medicine of the National Academy of Sciences.
In addition to those honors and awards listed above, he received a remarkable number of honors and awards from other groups and institutions. He received no less than 22 honorary degrees between 1974 and 2006; the last such award was from McGill University in Canada. Honorary Degree universities included Rockefeller University, University of Athens, Tel Aviv University, University of Zurich, University of Edinburgh, University of Helsinki, University of Liverpool and University of Aberdeen.
He received the Johns Phillips Award from the American College of Physicians for distinguished contribution to internal medicine in 1972, the Passano Award in 1989, and the Albert Lasker Award for Special Achievement in Medical Science in 1997. He was awarded the National Medal of Science in 2002 which was presented by President George W. Bush. The same year he received the American Heart Association Research Achievement Award. Most recently, 2008, he received the Japan Prize from the Emperor of Japan at a ceremony in Tokyo. This honor gave him great pleasure as he saw it as recognition of his lifetime achievement in medical scholarship. All his colleagues and friends are grateful that a remission in his disease made it possible for him to make the trip to Tokyo.
During his truly remarkable career McKusick authored well over 800 publications, the vast majority peer reviewed. However, among his publications he is unquestionably most well known for his expanding monograph entitled “Mendelian Inheritance in Man.” This publication began with Johns Hopkins Press in 1996 and after 12 editions this project was taken over by the National Library of Medicine under the acronym OMIM® (Online Mendelian Inheritance in Man®). The online OMIM states:
Welcome to OMIM®, Online Mendelian Inheritance in Man®. OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
This database was initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). Twelve book editions of MIM were published between 1966 and 1998. The online version, OMIM, was created in 1985 by collaboration between the National Library of Medicine and the William H. Welch Medical Library at Johns Hopkins. It was made generally available on the internet starting in 1987. In 1995, OMIM was developed for the World Wide Web by NCBI, the national Center for Biotechnology Information.
OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.
No discussion of Victor McKusick would be complete without comment on his personal characteristics and style. He was known for his generosity with his knowledge and resources. There are numerous examples of a medical scholar from another department, or even another institution, coming to Victor with an idea and receiving unlimited help in developing the idea. He was quiet and reserved, but always courteous. A woman, who worked for him as a technician making diagrams and slides 60 years ago, remembered that he always stood up when she entered his office to show him her work. He remained standing until she was seated. He cherished his friends and valued the Climatological and its social aspects. He enjoyed a good story and had a loud, charismatic laugh.
Victor McKusick was one of the great people in American Medicine. He is gone but his teaching will remain in all those he taught. A few days before he died, one of his associates asked him if he had any thoughts about the afterlife and he replied that he was keeping an open mind.