Research Profile
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.

Investigator: Dr. Motulsky is a Professor (Emeritus-active) of Medicine (Medical Genetics) and Genetics. Dr. Motulsky is a member of the National Academy of Sciences.

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