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Office: 4111 MERFIowa City, IA 52242 Phone: +1 319 335 8270 Email: edwin-stone@uiowa.edu
Web: The John and Marcia Carver Nonprofit Genetic Testing Laboratory
BA, Biology and English, Rice University, 1978MD, Baylor College of Medicine, 1985PhD, Cell Biology, Baylor College of Medicine, 1985Internship, Transitional, St. Joseph Hospital, Houston, 1986Residency, Ophthalmology, The University of Iowa, 1989Residency, Fellow-Associate, Ophthalmology, The University of Iowa, 1989Fellowship, Ophthalmology Research, The University of Iowa, 1990Fellowship, Vitreoretinal Surgery, The University of Iowa, 1992
Primary: Ophthalmology & Visual Sciences
gene 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
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 Macula Society 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:
Gene Therapy
Patient-derived Induced Pluripotent Stem Cells
Next Generation Sequencing