Arno Motulsky came to the UW in 1953 as an instructor in hematology, having trained with Karl Singer in Chicago at Michael Reese Hospital and with William Crosby at Walter Reed Army Graduate School. Because of Motulsky's interest in hereditary hemolytic anemias and genetic disorders in general, the suggestion by Department of Medicine chair Robert Williams that he spend more time in genetics fell on responsive ears. After a year at the Galton Laboratory of University College in London under Lionel Penrose, Motulsky returned in 1957 to build a division of medical genetics. This preceded the establishment of the Department of Genetics in UW's College of Arts and Sciences by three years. Several division members later obtained joint appointments with this department.
In 1967 the division obtained a program-project grant on gene action, and in 1972 NIH funded a broadly based center. Subsequent research in human and medical genetics has been far-ranging, consistent with the many interests of Motulsky and other faculty members. UW researchers carried out population studies in many parts of the world on malaria-dependent red cell traits, with emphasis on G6PD (glucose 6-phosphate dehydrogenase). Stanley Gartler used the G6PD enzyme system to study tumor origin, which led to the demonstration by Philip Fialkow that several hematological malignancies are clonal in origin.
Motulsky performed the first successful bone marrow transplantation in an experimental animal model to eradicate an inherited red cell disease (hereditary spherocytosis in deer mice). A post-doctoral fellow, Joe Goldstein, pioneered studies on the role of genetic hyperlipidemia in coronary artery disease. Later, as a faculty member of the University of Texas at Dallas/Southwestern, Goldstein won a Nobel prize for the discovery of a cell receptor for low density lipoprotein and its influence on cholesterol metabolism. Recent studies on fetal hemoglobin production by George Stamatoyannopoulos uncovered the mechanism for the developmental switch to adult hemoglobin that may lead to a treatment for sickle cell anemia. Such research has attracted investigators from this country and abroad and has helped popularize genetics as an important basic and applied science.
The principal theme of the work of Dr. Motulsky is the role of heredity-environment interactions in the pathogenesis of disease. Dr. Motulsky introduced the concept of genetically determined drug reactions (pharmacogenetics) and worked extensively on several pharmacogenetic traits. Current emphasis deals with the extension of pharmacogenetics to other environmental agents (ecogenetics) in conjunction with the UW center on ecogenetics. Previous studies on the frequency and genetics of hyperlipidemia in populations of patients with coronary heart disease led to the definition of the role of various genetic hyperlipidemias in coronary heart disease. Dr. Motulsky's current work in this field focuses on the study of lipid-related genes and is being carried out at genetic and population genetic levels. Other work deals with the genetics of homocysteine elevations as a risk factor in arteriosclerotic vascular disease and polymorphisms for MT hydrofolate reductase and the role of folic acid in regulating homocysteine levels. Another aspect of Dr. Motulsky's work is on the molecular genetics of color vision genes. Much heterogeneity was found in the molecular make-up of color vision pigment genes in individuals with normal and with defective color vision. The psychophysical perception of color is correlated with molecular gene arrangement.