Clinical Leadership

Clinical Leadership

Building the Foundation for Medical Genetics


	Dr. Arno Moulsky (second from right) is pictured with UW medical genetics faculty and former fellows Drs. Wylie Burke, Eloise Giblett, George Stamatoyannopoulos, and Melissa Parisi.

When Dr. Arno Motulsky was offered the chance to start a Division of Medical Genetics at the UW Medical Center in the 1950s, he hesitated, not wanting to give up his promising career in hematology. Dr. Robert Williams, then head of the Department of Medicine, suggested that he initially might concentrate his work on the genetics of blood diseases. After looking over the few then existing genetic units in the United States and Europe, Motulsky took the chance. To say it has paid off would be an understatement.

After taking additional training in human genetics in London, the hematologist and internal medicine physician went on to serve as head of the UW's Division of Medical Genetics in the Department of Medicine for more than 30 years. The division established the university as a center for lively research and training in the field and Motulsky became a nationally and internationally recognized scientist in human and medical genetics. This year Motulsky was named to the American Philosophical Society. He is only the third UW faculty member to earn that distinction.

Motulsky established the new division by attracting physicians and researchers from across the spectrum of biomedical specialties - geneticists, biochemists, molecular biologists, internal medicine specialists, pediatricians, and others - including people such as Dr. Stanley Gartler, Dr. Eloise Giblett, Dr. Philip Fialkow, Dr. Gilbert Omenn, Dr. Judith Hall, Dr. Thomas Bird, and Dr. George Stamatoyanopolous, who now heads the division.

In the 1950s, Motulsky established a medical school teaching program in medical and clinical genetics.

"I felt medical students should have an education in genetics, because of its importance in medicine," he said.

He also started one of the first research training programs in medical genetics for of physicians. In training medical geneticists and attracting new faculty members, Motulsky emphasized both research and clinical genetic training. He stressed that physician-scientists should use their medical knowledge in asking research questions.

For example, in the early 1970's, Motulsky and postdoctoral fellow Dr. Joseph Goldstein explored the role of the genetics of cholesterol and other blood fats in predisposing to heart attacks in a large patient study in several Seattle hospitals. Their data served as a background for Goldstein's later work at Southwest University in Dallas. The identification of the fundamental defect in familial hypercholesterolemia won Goldstein and Dr. Michael Brown the Nobel Prize in 1985.

Shortly after the UW hospital opened in 1959, Motulsky opened a genetics counseling clinic, one of the first of its kind in the country. The clinic diagnosed genetic diseases and gave advice to patients regarding recurrence risks of inherited disease in their families. In more recent times, the clinic has seen many patients with genetic diseases of adult onset, such as inherited breast cancer.

Motulsky's early research was on the genetics of red blood cell abnormalities. One such study looked at an enzyme defect found in some individuals of African and Mediterranean origin. The defect by itself had no detrimental effect, yet could be shown by the Motulsky team and others to protect against malarial infections. Carriers of this defect came down with severe anemia when taking certain therapeutic drugs.

"This was a good example of the interaction of heredity and environment," Motulsky said, "The genetic enzyme defect by itself was innocuous. The drug normally caused no problem, but the drug in enzyme-deficient people causes red cell destruction."

This work led to Motulsky founding the field of pharmacogenetics, the role of genetic factors in predisposing people to adverse drug reactions. This area has become an active field of investigation in recent years. Related activities led to work in ecogenetics, the study of genetic variability in response to environmentally deleterious agents, and led to the formation of an active center for ecogenetics at the University of Washington.

The importance of genetics in medical science continues to grow. A Department of Genome Sciences was founded a few years ago in the School of Medicine. The department's emphasis on novel approaches to studying human, animal, plant, and pathogen genomes, together with ongoing activities in the Department of Medicine's Division of Medical Genetics, as well as activities in pediatrics, neurology, the School of Public Health, and the Fred Hutchinson Cancer Research Center, are bringing about numerous advances in genetic and related research.

"The future looks great," said Motulsky, who is now an active professor emeritus of medical genetics and genome sciences, "and I am excited to continue being involved in this high-impact science."