WHITE PLAINS, N.Y., JULY 23, 2008 – The March of Dimes Foundation mourns the passing of Victor A. McKusick, MD, University Professor of Medical Genetics at the Johns Hopkins University School of Medicine, a long-time advisor to the March of Dimes, and the award-winning “father of medical genetics,” who died July 22 at age 86.
An energetic and caring physician, scholar, teacher and mentor, Dr. McKusick was an international pioneer in research and clinical studies of inherited diseases. He had long been acclaimed as the founding father of the modern specialty of medical genetics — that is, the application of genetic science to medicine — a branch of medicine that didn't even exist when he graduated from the medical school in 1946.
“We’re deeply saddened by the loss of Dr. McKusick,” said Michael Katz, MD, senior vice president for Research and Global Programs at the March of Dimes. “He was a true pioneer and leader, and all his colleagues benefited greatly by our association with him. Patients and families in the United States and throughout the world also owe him a debt of gratitude for his contributions to our understanding of the role of genetics in disease and health.”
In 1959, Dr. McKusick asked the March of Dimes to fund a two-week summer course in medical genetics at The Jackson Laboratory in Bar Harbor, Maine (his native state). This “Short Course in Medical and Experimental Mammalian Genetics,” now in its 49th year, has come to be regarded as a keystone program of professional education in genetics. With a faculty from Johns Hopkins, Jackson Lab, and other institutions, the Short Course has helped train thousands of physicians, nurses, genetic counselors and other health professionals on the latest developments in medical genetics. Additionally, hundreds of journalists have participated in another of Dr. McKusick’s innovations, “Press Week” at the annual Short Course, helping them write and produce more informed medical and health stories.
The March of Dimes, the sole supporter of the Short Course and Press Week for the first 25 years, has continued to contribute to it (although now sharing the cost with other agencies). It is now the longest-running grant in March of Dimes history.
The March of Dimes mission to improve infant health led it to seek out pioneering genetic investigators and clinicians when they were few in number, a prophetic circle of hardworking, far-seeing visionaries — whose aims were, nevertheless, eminently practical.
Dr. McKusick served on several committees that reviewed applications to the March of Dimes for research support. He once said, “The Foundation’s early willingness to gamble its energies and resources to spearhead the burgeoning advance of genetics has profoundly influenced the course and direction as well as the pace of advance in the entire field.”
In 1966, Dr. McKusick created the first edition of a now-classic reference work, Mendelian Inheritance in Man (MIM), cataloging all the genes known or suspected to be involved in human traits, including birth defects and genetic diseases. What made MIM unique were the extensive references to the biomedical literature on human genetic variations and the natural history of genetic disorders that Dr. McKusick provided. This catalog, published in its 12th edition in 1998, grew from one slim book to three large volumes as the field of medical genetics expanded exponentially.
Ever the pioneer, Dr. McKusick encouraged the development of the Web-based version, OMIM (Online Mendelian Inheritance in Man). OMIM is a free version of the catalog on the Internet, updated daily — providing clinicians, researchers and patients around the world with a searchable database of all known genetic traits and diseases and links to a variety of related resources. It was characteristic of Dr. McKusick that he made OMIM a free resource and continued to update it himself until the very end of his life.
The success of MIM led Dr. McKusick to the idea of producing a human “gene map” that would show where each gene resides on the chromosomes. He proposed it as early as September 1969, at the March of Dimes Third International Conference on Congenital Malformations held at The Hague in the Netherlands. Dr. McKusick was the chairman of the executive committee. In his concluding remarks, he said, “I propose that detailed exploration of the genetic constitution of man is ripe for an all-out attack. The principles and broad outlines have been discovered. What we should know in full detail are the structure and geography of the chromosomes of man: the full nucleotide sequence of all genes determining the amino acid sequence of proteins — the so-called ‘structural genes’ — and the location of each on the 24 chromosomes of man.”
He proceeded to help organize a regular series of international Human Gene Mapping Workshops, with funding from the March of Dimes and the National Institutes of Health, which grew and transformed into the Human Genome Project.
Dr. McKusick was the founder and first president of the Human Genome Organization and a member of the National Academy of Sciences and the American Academy of Arts and Sciences. Among his many other honors were the 1995 Mendel Medal; the 1997 Albert Lasker Award for Special Achievement in Medical Science; the 1997 Gairdner International Award; the 2001 National Medal of Science; and the 2008 Japan Prize in Medical Genomics and Genetics.
For more information:
Los Angeles Times obituary, published July 24, 2008:
http://www.latimes.com/features/health/medicine/la-me-mckusick24-2008jul24,0,6660687.story
“The Man Who Put Genetics on the Map,” Johns Hopkins Magazine, April 2000:
http://www.jhu.edu/~jhumag/0400web/38.html
OMIM:
http://www.ncbi.nlm.nih.gov/omim/
Oral History of Human Genetics Project: 2001 interview with Dr. McKusick:
http://www.socgen.ucla.edu/hgp/mckusick.html
