Ophthalmology And Visual Sciences

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, Wynn 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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Brownstein C, 64 intervening authors , Stone E, et al .  An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.  Genome Biology.  2014. 15(3):R53.
[PubMed]

Zhang Y, Seo S, Bhattarai S, Bugge K, Searby C, Zhang Q, Drack A, Stone E, Sheffield V.  BBS mutations modify phenotypic expression of CEP290-related ciliopathies.  Hum Mol Genet.  2014. 23(1):40-51.
[PubMed]

Burnight E, Wiley L, Drack A, Braun T, Anfinson K, Kaalberg E, Halder J, Affatigato L, Mullins R, Stone E, Tucker B.  CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.  Gene Ther.  2014. 21(7):662-72.
[PubMed]

Huang W, Cideciyan A, Roman A, Sumaroka A, Sheplock R, Schwartz S, Stone E, Jacobson S.  Inner and Outer Retinal Changes in Retinal Degenerations Associated With ABCA4 Mutations.  Invest Ophthalmol Vis Sci.  2014. 55(3):1810-22.
[PubMed]

Mullins R, Khanna A, Schoo D, Tucker B, Sohn E, Drack A, Stone E.  Is age-related macular degeneration a microvascular disease? .  Adv Exp Med Biol.  2014. 801:283-9.
[PubMed]

Boye S, Huang W, Roman A, Sumaroka A, Boye S, Ryals R, Olivares M, Ruan Q, Tucker B, Stone E, Swaroop A, Cideciyan A, Hauswirth W, Jacobson S.  Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy.  PLoS One.  2014. 9(3):e92928.
[PubMed]

Thompson S, Blodi F, Lee S, Welder C, Mullins R, Tucker B, Stasheff S, Stone E.  Photoreceptor cells with profound structural deficits can support useful vision in mice.  Invest Ophthalmol Vis Sci.  2014. 55(3):1859-66.
[PubMed]

Collison F, Genead M, Fishman G, Stone E.  Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.  Ophthalmic Genet.  2014. 35(2):125-7.
[PubMed]

Tucker B, Mullins R, Stone E.  Stem Cells for Investigation and Treatment of Inherited Retinal Disease.  Hum Mol Genet.  2014. 
[PubMed]

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]

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