Dr. Stone established the Molecular Ophthalmology laboratory at the University of Iowa in 1987, to facilitate the diagnosis and treatment of human eye diseases. His primary research interest is on inherited eye diseases, including those that manifest as a component of generalized neurological dysfunction such as occurs in lysosomal storage disorders. The Stone group's strategy is to map disease-causing genes by linkage analysis and positional approaches, followed by molecular characterization of specific mutations. In collaboration with Dr. Sheffield, the Stone group has identified the chromosomal location of genes that cause eye diseases, hereditary obesity, corneal dystrophies, vitreoretinopathy, optic neuropathy, deafness, and Pendred Syndrome. In collaboration with Dr. Beverly Davidson, Director of the Vector Core Facility, the group is developing an approach for gene transfer to the eye, for the treatment of inherited eye diseases.
Selected Publications:
Stone EM. A very effective treatment for neovascular macular degeneration. New England Journal of Medicine. Oct 2006;355(14):1493-1495.
Traboulsi EI, Koenekoop R, Stone EM. Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis. Ophthalmic Genetics. Dec 2006;27(4):113-115.
Kim LS, Fishman GA, Seiple WH, Szlyk JP, Stone EM. Retinal dysfunction in carriers of Bardet-Biedl syndrome. Ophthalmic Genetics. Sep 2007;28(3):163-168.
Mullins RF, Kuehn MH, Faidley EA, Syed NA, Stone EM. Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Investigative Ophthalmology and Visual Science. Jul 2007;48(7):3372-3380.
Stone EM. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. American Journal of Ophthalmology. Dec 2007;144(6):791-811.
Thompson S, Philp AR, Stone EM. Visual function testing: a quantifiable visually guided behavior in mice. Vision Research. Feb 2008;48(3):346-352.
Stone EM. Progress toward effective treatments for human photoreceptor degenerations. Current Opinion in Genetics and Development. May 2009.
