James R. Lupski, M.D., Ph.D.
Molecular and Human Genetics
The genetic basis of common disease phenotypes: Stargardt disease and age-related maculopathies
Drs. Lewis and Lupski received the award for their contributions to the search for the causes of blindness in children and adults. In collaboration with researchers at other institutions, Drs. Lewis and Lupski identified the causative gene for Stargardt macular dystrophy, arguably the most common genetic disease of central blindness in North America. Further analysis of this gene, however, has shown that mutations apparently also cause at least 16% of age-related macular degeneration, the most common cause of untreatable blindness in older Americans. Since at least 15 million Americans have age-related macular degeneration, the full implications of this discovery and the novel biochemical pathway uncovered have far reaching diagnostic and therapeutic implications.
Drs. Lewis and Lupski’s nomination was based on the following publications:
Anderson KL, Baird L, Lewis RA, Chinault AC, Otterud B, Leppert M, Lupski JR. A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am J Hum Genet. 1995 Dec;57(6):1351-63.
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997 Mar;15(3):236-46.
Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li Y, Hutchinson A, Dean M, Lupski JR, Leppert M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997 Sep 19;277(5333):1805-7.