Motulsky was a founder of the field of pharmacogenetics, i.e. the role of genetic variation in response to drugs. He is currently involved in assessing the role of genetic polymorphisms in resistance and susceptibility to disease from environmental agents (Center of Ecogenetics).
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.
Hayashi T, Motulsky AG, Deeb SS. Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. Nature Genetics. 22:90-93. 1999.
Motulsky AG. If I had a gene test what would I have and who would I tell. Lancet, 354 (Supplement I):35-37, 1999.
Austin MA, McKnight B, Edwards KL, Bradley CM, McNeely MJ, Psaty BM, Brunzell JD, Motulsky AG. Cardiovascular disease mortality in the familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation 101:2777-2782, 2000.
Motulsky AG. Some future directions in medical genetics. American Journal of Human Genetics, 66:1190-1191, 2000.
McNeely MJ, Edwards KL, Marcovina SM, Brunzell JC, Motulsky AG, Austin MA. Lipid and Lipoprotein abnormalities in familial combined hyperlipidemia: a twenty-year prospective study. Atherosclerosis, 159:471-81, 2001.
Motulsky AG, Deeb SS. Color Vision and Its Genetic Defects, in The Metabolic and Molecular Basis of Inherited Disease (vol. IV), Chapter 238, 8th edition, edited by CR Scriver, et al. New York, McGraw Hill, 2001, pp 5955-5976.
Bennett RL, Motulsky AG, Bittles A, Hudgins L, Uhrich S, Doyle DL, Silvey K, Scott CR, Cheng E, McGillivray B, Steiner R, Olson D. Genetic Counseling and Screening Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors, J of Genetic Counseling, 11: 97-119, 2002.
King RA, Rotter JI and Motulsky, AG: The Approach to Genetic Basis of Common Diseases, in Genetic Basis of Common Diseases 2nd Edition, edited by RA King, JI Rotter, AG Motulsky. Chapter 1, Oxford University Press, 2002.
Motulsky AG, Brunzell JD. Genetics of Coronary Atherosclerosis, in The Genetic Basis of Common Diseases, 2nd Edition, edited by RA King, JI Rotter, AG Motulsky. Oxford University Press, New York, 2002.
King MC, Motulsky AG. Mapping Human History. Science 298:2342-3, 2002.
Motulsky, AG. From Pharmacogenetics and Ecogenetics to Pharmacogenomics. Medicina nei Secoli Arte e Scienza (Journal of History of Medicine) 14:683-705, 2002.
Austin MA, Edwards KL, Monks SA, Koprowicz KM, Brunzell JD, Motulsky AG, Mahaney MC, Hixson JE. Genome-wide scan for quantitative trait loci influencing LDL size and plasma triglyceride in familial hypertriglyceridemia. Journal of Lipid Research 44:2161-2168, 2003.
Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleshcau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA. X-linked high myopia associated with cone dysfunction. Archives of Ophthalmology 122:897-908, 2004.