News Release

Dr. McKusick is one of two Johns Hopkins researchers to win Lasker Awards this year. Alfred Sommer, M.D., Dean of the School of Hygiene and Public Health, and Professor of Ophthalmology, Epidemiology and International Health at Hopkins, received the Albert Lasker Clinical Research Award for his discovery that simple vitamin A not only prevents blindness in children in the developing world but also protects them from a range of life-threatening infections common in the poorest nations.

The Award will be presented during the Awards Luncheon at the Pierre Hotel in New York City on Friday, September 26.

It is rare in the complex world of modern medicine for one man to have essentially founded an entire branch of medicine. It is rarer still when that field comes to occupy such a central place in the mainstream of clinical medicine. Such is the case with Victor A. McKusick, universally recognized as the father of medical genetics, a pre-eminent teacher of teachers, and a great physician. As anyone who has ever seen Dr. McKusick with his patients knows, they idolize him.

As a young physician at Johns Hopkins in the late 1940s, Victor McKusick was training in cardiology, even though his true intellectual love was genetics. During his young professional life, scientists at Rockefeller proved (through studies of pneumococci) that DNA is the substance that transmits hereditary information from cell to cell. Not long after that, James Watson and Francis Crick reported that DNA is a double helix, giving the molecules of heredity a structural shape. And, of course, there was the well-known story of Gregor Mendel and his peas. But there was no such thing as medical genetics. Dr. McKusick helped invent it.

While developing "spectral phonocardiography," an arcane predecessor to contemporary methods of assessing the status of the heart, Dr. McKusick studiously explored the patterns of inheritance among patients with connective tissue disorders and then promptly wrote a definitive book on the subject. That was in 1956. (He also contributed a text, Cardiovascular Sound in Health and Disease, to cardiology along the way.)

During the 1950s genetics, which Dr. McKusick describes as one of the few areas of medicine to begin in the basic research laboratory rather than at the bedside, was maturing. The correct number of human chromosomes (46) was discovered, and the importance of dissecting rare forms of disease to uncover normal physiology was gaining acceptance. In 1957, A. McGehee Harvey, chairman of medicine at Hopkins, asked Dr. McKusick to create a new, distinct division of medical genetics -- one of the first in the world. Dr. McKusick went at it with his customary subdued gusto. Every time he saw a patient, he wondered about the patient's relatives and asked whether there was a connection between genes and disease. Quite often, he found one, linking individual disease genes to their native location on one of the 46 chromosomes.

Two years later, researchers discovered microscopically visible changes in the chromosome of patients with Down Syndrome: an extra chromosome 21. Researchers had been able to actually see a chromosome and determine its defect. With that, medical genetics acquired an anatomical base. Says Dr. McKusick, "Medical geneticists now had their specific organ -- the genome -- just as cardiologists had the heart and neurologists had the nervous system." Dr. McKusick was out of cardiology for good.

In 1962, Dr. McKusick discovered that a uniquely inbred group of people, the Old Order Amish, lived not far from Baltimore in rural Pennsylvania. He identified an inherited form of hemolytic anemia among these people who seldom marry outside of the community fold. His discovery of certain liver diseases common to the Amish helped others correctly identify similar diseases in other population groups. And he identified two forms of inherited dwarfism that subsequently led to a lifelong commitment to the special metabolic and other diseases among patients who call themselves the Little People.

By early 1960s, graduate physicians were coming to Hopkins to study under Dr. McKusick, who is remembered fondly for a monthly journal club he held at home with Anne, his wife and fellow physician. Students were directed to scour the literature for everything they could find related to new genetic observations. It was out of that growing compilation of amazing data that Dr. McKusick got the idea for Mendelian Inheritance in Man (MIM), first publishedin 1966. Then it was a volume that listed some 1,500 phenotypes which, following Mendel's laws of inheritance, were presumed to represent the manifestation of a gene in each case. Then, with the advent of techniques including somatic cell hybrid mapping, and cloning, it became possible to connect genes to disorders with real certainty --particularly during the past 10 years. Today, MIM, about to appear in its 12th three-volumed edition and now on-line, is human genetics' Rosetta Stone, holding within its electronic pages the clues to close to 9,000 genes. Many now are disease-linked, but MIM still lists phenotypes for which no gene has been located. The big job for the future is to bring genes and phenotypes together.

The comprehensive listing of genes and phenotypes represented by Mendelian Inheritance in Man led quite naturally to Dr. McKusick's next visionary idea -- the human gene map. MIM is like a phone book with names and addresses. But a real map would not only show which genes reside on which chromosomes, but precisely where they are located. In 1973, Dr. McKusick and colleagues organized the first of what was to become a regular series of Human Gene Mapping Workshops. It is no surprise that Dr. McKusick was then a leading proponent of the now famous Human Genome Project whose goal is to locate all of humankind's 60,000-to-70,000 genes and decipher the sequence of the more than 3 billion individual nucleotides that comprise a complete human genome. Critics complained that mapping and sequencing the human genes was nothing more than mindless cataloguing of information without much biology to make the data useful. "Previous progress in gene mapping and the value of the results were apparently unfamiliar to the critics," Dr. McKusick says. "At a birth defects congress in the Hague in 1969, complete mapping of the genes on the human chromosomes had been proposed as an effective approach to the solution of problems of congenital malformations and genetic disorders in general. That proposal came close on the heels of the first manned moon landing in July 1969."

That July, as he has been every July but two since 1960, Dr. McKusick was in Bar Harbor, Maine, where he directs a now legendary two-week course in genetics for scientists and medical practitioners. Held in conjunction with the Jackson Laboratory, which breeds thousands of genetically useful strains of mice for research, the course is a mirror of what has happened in genetics in mouse and man during nearly 40 productive years. Dr. McKusick's own work dominated the first phase of modern genetics -- the association of genes and phenotypes. Now it is forming the background for functional genomics -- the study of the physiologic behavior of genes. Dr. McKusick asked "what gene is it" so that his students, grandstudents, and now great-grandstudents can ask "how does the gene do its damage." Through this, scientists have also learned to distinguish genetics as the study of inheritance from genomics as the study of all genetically related disease, whether inherited or not. For instance, most cancer is a genetic disease, associated with gene mutations or disregulation. But not all cancer is inherited.

There is one additional feature of Victor McKusick's life that figures prominently in his career and that is his character. Dr. McKusick's integrity, high standards of excellence, and personal compassion are what make him such a remarkable physician and teacher.

Dr. McKusick will receive an honorarium, a citation highlighting his achievements, and an inscribed statuette of the Winged Victory of Samothrace, the Albert and Mary Lasker Foundation's traditional symbol of humankind's victory over disability, disease and death.