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Edwin StoneProfessor, Ophthalmology & Visual Sciences
Web: The John and Marcia Carver Nonprofit Genetic Testing Laboratory
EducationBA, Biology and English, Rice University
MD, Baylor College of Medicine
PhD, Cell Biology, Baylor College of Medicine
Internship, Transitional, St. Joseph Hospital, Houston
Residency, Ophthalmology, The University of Iowa
Residency, Fellow-Associate, Ophthalmology, The University of Iowa
Fellowship, Ophthalmology Research, The University of Iowa
Fellowship, Vitreoretinal Surgery, The University of Iowa
AppointmentsPrimary: Ophthalmology & Visual Sciences
Centers and Program AffiliationsInterdisciplinary Graduate Program in Genetics
Interdisciplinary Graduate Program in Informatics
Research Interestsgene therapy, hereditary diseases of the retina, high-throughput screening for disease causing mutations, inherited eye diseases, molecular genetic investigation of inherited eye diseases, next generation sequencing, patient-derived induced pluripotent stem cells
MeSH Terms from PublicationsPedigree, Eye Proteins, Electroretinography, Humans, Retinal Degeneration, Mutation, Macular Degeneration, Visual Acuity, Male, DNA Mutational Analysis, Retinitis Pigmentosa, Female, Visual Fields, Adult, Polymorphism, Single-Stranded Conformational, Middle Aged, Photoreceptor Cells, Vertebrate, Tomography, Optical Coherence, Genetic Linkage, Retina, Fundus Oculi, Chromosome Mapping, Adolescent, Visual Field Tests, Phenotype
My research seeks to understand how small variations in the genes of human beings can result in large variations in their vision. I am especially interested in finding and characterizing genes that are involved in three classes of human eye disease: macular degeneration, glaucoma, and heritable photoreceptor degeneration. I am also very interested in strategies for bringing new genetic discoveries to the clinic as rapidly as possible and in so doing I have been very active in removing the technical, legal and financial barriers between genetic discoveries and the patients who could benefit from them by creating a nonprofit genetic testing laboratory that provides low cost clinical genetic tests for more than 20 different inherited eye diseases on an international scale.
I am a fellowship-trained vitreoretinal surgeon with a special interest in hereditary diseases of the retina. I am the director of the Institute for Vision Research which includes 26 faculty and 125 staff.
I and my collaborators at the University of Iowa, have mapped and/or cloned dozens of human disease genes including: three glaucoma genes (MYOC, FOXC1, and familial cavitary optic disk anomaly), five genes for macular disease (Best disease, pattern dystrophy, Stargardt-like dominant macular dystrophy, malattia Leventinese, and fibulin-5-associated age-related macular degeneration), dominant stromal corneal dystrophy, Wagner disease, erosive vitreoretinopathy, the enhanced S cone syndrome, and achromatopsia.
I have collected over 50,000 DNA samples from patients with various inherited eye diseases and have developed high-throughput methods for screening these patients for disease-causing mutations in candidate genes.
Investigator, Howard Hughes Medical Institute
Director, University of Iowa Institute for Vision Research
Director, Carver Nonprofit Genetic Testing Laboratory
Seamans-Hauser Chair of Molecular Ophthalmology
Association for Research in Vision and Ophthalmology
American Ophthalmological Society
American Academy of Ophthalmology
American Society of Clinical Investigation
American Medical Association
American Society of Human Genetics
American Society for Biochemistry and Molecular Biology
Molecular Genetic Investigation of Inherited Eye Diseases including:
- Age-related macular degeneration
- Retinitis Pigmentosa
- Stargardt Disease
- Best Disease
- Leber Congenital Amaurosis
- Usher Syndrome
- Bardet-Biedl Syndrome
- Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy
- Leber Hereditary Optic Neuropathy
Patient-derived Induced Pluripotent Stem Cells
Next Generation Sequencing
- Cideciyan AV, Swider M, Aleman TS, Feuer WJ, Schwartz SB, Russell RC, et al. Macular Function in Macular Degenerations: Repeatability of Microperimetry as a Potential Outcome Measure for ABCA4-Associated Retinopathy Trials. Invest Ophthalmol Vis Sci. 2012;53(2):841-852.
Davis AS, Folk JC, Russell SR, Sohn EH, Boldt HC, Stone EM, et al. Intravitreal bevacizumab for peripapillary choroidal neovascular membranes. Arch Ophthalmol. 2012;130(8):1073-1075.
Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, et al. TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa, and prevents obesity in Bardet Biedl Syndrome type 1 mice. Invest Ophthalmol Vis Sci. 2012;53(1):100-106.
Fingert JH, Roos BR, Solivan-Timpe F, Miller KA, Oetting TA, Wang K, et al. Analysis of ASB10 variants in open angle glaucoma. Hum Mol Genet. 2012;21(20):4543-4548.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, et al. Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. Am J Ophthalmol. 2012;154(6):987-1001 e1001.
Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, et al. Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations: Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years. Arch Ophthalmol. 2012;130(1):9-24.
Kay CN, Abramoff MD, Mullins RF, Kinnick TR, Lee K, Eyestone ME, et al. Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy. Arch Ophthalmol. 2012;130(3):357-364.
Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, et al. Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet. 2012;8(10):e1003001.
Mao M, Solivan-Timpe F, Roos BR, Mullins RF, Oetting TA, Kwon YH, et al. Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis. 2012;18:705-713.
Mullins RF, Kuehn MH, Radu RA, Enriquez GS, East JS, Schindler EI, et al. Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization. Invest Ophthalmol Vis Sci. 2012;53(4):1883-1894.