Dr. Victor McKusick, “Father of Medical Genetics”, succumbs to cancer at age 86
JAX® NOTES Issue 511, Fall 2008
Dr. Victor McKusick, Johns Hopkins University physician known as "The Father of Medical Genetics", died July 22, 2008, at the age of 86. He was a pioneer in linking diseases to specific genes and began the first database of gene functions — a repository that now includes more than 18,000 human genes. Here at The Jackson Laboratory, he is best known for co-founding the "Short Course in Medical and Experimental Mammalian Genetics", the most respected course of its kind. The Jackson Laboratory, Bar Harbor, Maine, has offered this popular course every summer for 49 years, introducing thousands of students, researchers, and doctors worldwide to innovative methods of addressing illnesses (the 49th session of the course was actually in session when McKusick died).
Dr. McKusick's scientific accomplishments are legendary. Trained as a cardiologist, he initially specialized in heart murmurs and other distinctive sounds. In the 1950s, using acoustic spectography technology developed by the Bell Telephone Laboratory, he was able to describe these sounds in intricate detail never before accomplished.
In 1957, he established one of the nation’s first departments of medical genetics at Johns Hopkins University. In 1968, his team mapped the gene for a blood group on Chromosome 1, the first time a gene had been identified on a non-sex chromosome.
Dr. McKusick became an expert on Marfan syndrome, a connective tissue disorder resulting in abnormally tall stature, long limbs, long thin fingers, serious heart defects, and sometimes lung, eye, spinal cord, skeletal, and hard palate defects (The National Marfan Foundation). In 1991, he isolated and identified the responsible gene as fibrillin-1 (FBN-1). As a result of his research, potential new treatments for Marfan syndrome are being studied in clinical trials.
Dr. McKusick kept meticulous records of new gene discoveries and, in 1996, published the first edition of his now-classic book "Mendelian Inheritance in Man." At the time, it included 1,800 genes. By the 12th and last printed version in 1998, it had grown to three volumes and been revised to encompass about 12,000 genes. Now, it is published only online, and McKusick himself updated the database until recently.
McKusick was among the first to propose that the human genome be sequenced and to recognize the value of studying genetics in mice as a model for human disease, spurring joint projects between researchers in both fields.
Among McKusick's many awards are the 1997 Albert Lasker Award for Special Achievement in Medical Science, the 2001 National Medal of Science, and the 2008 Japan Prize in Medical Genomics and Genetics.
As Dr. Rick Woychik, Director of The Jackson Laboratory, stated in a message to Jackson Laboratory employees: "On July 22nd the nation lost a giant in the world of science, Maine lost a distinguished native son, and The Jackson Laboratory lost a dear friend. As you know, Victor is known as the "father of medical genetics" and was a cofounder of the Short Course in Medical and Experimental Mammalian Genetics. He loved the Course, and, even though he couldn't be here, the Laboratory arranged for him to watch it via the Internet. Victor was not only a brilliant scientist; he cared about people and was a teacher and mentor to thousands of students, scientists and physicians. We will miss him. I will miss him."
Reference
Los Angeles Times. 2008. Victor A. McKusick, 86; Johns Hopkins physician pioneered genetics research. Los Angeles Times July 24.
