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Edwin Stone M.D., Ph.D.
edwin-stone
 uiowa eduProfessor of Ophthalmology
Our laboratory studies inherited eye diseases. Projects range from attempts to map disease-causing genes with linkage analysis and positional approaches to the molecular characterization of specific mutations once the disease-causing genes have been identified. Diseases actively under study include: age related macular degeneration; glaucoma; retinitis pigmentosa; hereditary myopia; corneal dystrophies; Leber's hereditary optic neuropathy. Students and fellows in the laboratory are encouraged to participate in the clinical examination of patients as well as in the molecular investigation of the diseases. Selected Publications
Stone, E.M., Braun, T.A., Russell, S.R., Kuehn, M.H., Lotery, A.J., Moore, P.A., Eastman, C.G., Casavant, T.L., Sheffield, V.C., Missence Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration, New England Journal of Medicine, (351), 346-353, 2004. Braun, T.A., Shankar, S.P., Davis, S., O'Leary, B., Scheetz, T.E., Clark, A.F., Sheffield, V.C., Casavant, T.L., Stone, E.M., Prioritizing Regions of Candidate Genes for Efficient Mutation Screening, Human Mutation, (27)195-200, 2006. Chiang, A.P., Beck, J.S., Yen, H.J., Tayeh, M.K., Scheetz, T.E., Swiderski, R.E., Nishimura, D.Y., Braun, T.A., Kim, K.Y., Huang, J., Elbedour, K., Carmi, R., Slusarski, D.C., Casavant, T.L., Stone, E.M., Sheffield, V.C., Homozygosity Mapping with SNP Arrays Identifies TRIM32, an E3 Ubiquitin Ligase, as a Bardet-Biedl Syndrome Gene (BBS11), Proceedings of the National Academy of Sciences of the United States of America, (103) 6287-92, 2006. Stone, E. M., Lotery, A. J., Munier, F. L., Heon, E., Piguet, B., Guymer, R.H., Vandenburgh, K., Cousin, P., Nishimura, D., Swiderski, R.E., Silvestri, G., Mackey, D. A., Hageman, G. S., Bird, A. C., Sheffield, V. C., and Schorderet, D. F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nature Genetics 1999; 22: 199-202. Stone, E.M., Fingert, J.H., Alward, W.L.M., Nguyen, T.D., Polansky, J.R., Sunden, S.L.F., Nishimura, D., Clark, A.F., Nystuen, A., Nichols, B.E., Mackey, D.A., Ritch, R., Kalenak, J.W., Craven, E.R., and Sheffield, V.C. 1997. Identification of a Gene Causing Primary Open Angle Glaucoma (GLC1A). Science 275:668-670. |
