Biosciences Graduate Program

Edwin M. Stone, MD, PhD

Portrait

Howard Hughes Medical Investigator
Seamans-Hauser Chair in Molecular Ophthalmology
Director, Molecular Ophthalmology Laboratory
Director, Carver Family Center for Macular Degeneration
Director, Carver Nonprofit Genetic Testing Laboratory
Director, Institute for Vision Research
Professor of Ophthalmology and Visual Sciences

Contact Information

Primary Office: 4111  MERF
Iowa City, IA 52242
Primary Office Phone: 319-335-8270

Email: edwin-stone@uiowa.edu
Web: The Wynn Institute for Vision Research

Education

BA, Biology and English, Rice University
PhD, Cell Biology, Baylor College of Medicine
MD, Baylor College of Medicine

Internship, Transitional, St. Joseph Hospital, Houston
Fellowship, Associate, Ophthalmology, The University of Iowa
Residency, Ophthalmology, The University of Iowa
Fellowship, Ophthalmology Research, The University of Iowa
Fellowship, Vitreoretinal Surgery, The University of Iowa

Licensure and Certifications

Iowa Medical License, Iowa Board of Medical Examiners
NBME Diplomate, National Board of Medical Examiners
ABO Certification, American Board of Ophthalmology

Education/Training Program Affiliations

Biosciences Graduate Program
Interdisciplinary Graduate Program in Genetics
Interdisciplinary Graduate Program in Informatics
Interdisciplinary Graduate Program in Neuroscience
Interdisciplinary Graduate Program in Translational Biomedicine
Medical Scientist Training Program

Research Summary

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.

Center, Program and Institute Affiliations

Carver Family Center for Macular Degeneration
John and Marcia Carver Nonprofit Genetic Testing Laboratory
Stephen A. Wynn Institute for Vision Research

Selected Publications

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Pennesi M, Stover N, Stone E, Chiang P, Weleber R.  Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.  Invest Ophthalmol Vis Sci.  2011 October. 52(11):8166-73.
[Link]

Davis L, Meyer K, Schindler E, Beck J, Rudd D, Grundstad A, Scheetz T, Braun T, Fingert J, Alward W, Kwon Y, Folk J, Russell S, Wassink T, Sheffield V, Stone E.  Copy number variations and primary open-angle glaucoma.  Invest Ophthalmol Vis Sci.  2011 September 9. 52(10):7122-33.
[Link]

Genead M, Fishman G, Rha J, Dubis A, Bonci D, Dubra A, Stone E, Neitz M, Carroll J.  Photoreceptor structure and function in patients with congenital achromatopsia.  Invest Ophthalmol Vis Sci.  2011 September. 52(10):7298-308.
[Link]

Zode G, Kuehn M, Nishimura D, Searby C, Mohan K, Grozdanic S, Bugge K, Anderson M, Clark A, Stone E, Sheffield V.  Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.  J Clin Invest.  2011 September 1. 121(9):3542-53.
[Link]

Tucker B, Scheetz T, Mullins R, DeLuca A, Hoffmann J, Johnston R, Jacobson S, Sheffield V, Stone E.  Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.  Proc Natl Acad Sci U S A.  2011 August 23. 108(34):E569-76.
[Link]

Aleman T, Cideciyan A, Aguirre G, Huang W, Mullins C, Roman A, Sumaroka A, Olivares M, Tsai F, Schwartz S, Vandenberghe L, Limberis M, Stone E, Bell P, Wilson J, Jacobson S.  Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model.  Invest Ophthalmol Vis Sci.  2011 August. 52(9):6898-910.
[Link]

Fingert J, Robin A, Stone J, Roos B, Davis L, Scheetz T, Bennett S, Wassink T, Kwon Y, Alward W, Mullins R, Sheffield V, Stone E.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.  Hum Mol Genet.  2011 June 15. 20(12):2482-94.
[Link]

Quellec G, Russell S, Scheetz T, Stone E, Abramoff M.  Computational quantification of complex fundus phenotypes in age-related macular degeneration and Stargardt disease.  Invest Ophthalmol Vis Sci.  2011 May. 52(6):2976-81.
[Link]

Kinnick T, Mullins R, Dev S, Leys M, Mackey D, Kay C, Lam B, Fishman G, Traboulsi E, Iezzi R, Stone E.  Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.  Retina.  2011 March. 31(3):581-95.
[Link]

Iannaccone A, Kerr N, Kinnick T, Calzada J, Stone E.  Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.  Arch Ophthalmol.  2011 February. 129(2):211-7.
[Link]

Date Last Modified: 08/22/2014 - 13:44:56