Motulsky and his postdoctoral fellow, Joseph Goldstein (later a Nobel prize winner for his work in cholesterol metabolism), investigated the genetic basis of hyperlipidemia in coronary heart disease and described a new entity: familial combined hyperlipidemia. Motulsky's current studies in this area deal with the role of various lipid factors and their genetic determinants in coronary heart disease. These studies are carried out with a local team of investigators in metabolic diseases (J. Brunzell), epidemiology (M. Austin), statistical genetics (G. Jarvik & E. Wijsman) and molecular genetics (Samir Deeb).
Dr. Motulsky has worked on the molecular genetics of human color vision with a molecular geneticist (Samir Deeb) and with psychologists. In this work, quantitatively assessed perception of color is correlated with the molecular arrangements of the red-green color vision genes. The finding of minor genetic differences in pigment genes (unrelated to color vision defects) causing variable perception of color is of fundamental interest and initiates a new field of molecular psychology.
Dr. Motulsky received many honors including election to the National Academy of Science (NAS), the Institute of Medicine of the NAS, the American Association of Arts and Sciences, and the American Philosophical Society.
In addition to his scientific activities, Dr. Motulsky has long been interested in the social impact of human genetics (including genetic testing) and has participated in various national committees dealing with these issues.
Organizations:
- American Society of Human Genetics
- American College of Medical Genetics
- American Society for Clinical Investigation
- American Association of Physicians
- American College of Physicians
Honors and Awards:
- The William Allan Memorial Award, American Society of Human Genetics, (1970)
- Institute of Medicine (1974)
- National Academy of Sciences (1976)
- American Academy of Arts and Sciences (1978)
- Fellow, American Association for the Advancement of Science (1982)
- Honorary Sc.D., University of Illinois (1982)
- President, International Congress of Human Genetics (1986)
- San Remo International Prize for Genetic Research (1988)
- Honorary M.D., University of Wurzburg, Germany (1991)
- Award for Lifetime Achievement in Genetics, March of Dimes Birth Defects Foundation (1996)
- American Society of Human Genetics Excellence in Education Award (1999)
- American Philosophical Society (2003)
- Honorary Medal for Outstanding Research and Education, German Society of Human Genetics (2003)
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