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Home » Research at NEI » Ophthalmic Genetics and Visual Function Branch

Ophthalmic Genetics and Visual Function Branch

Ophthalmic Genetics and Visual Function Branch
Building 10, Room 10N226
10 Center Drive, MSC 1860
Bethesda, Maryland 20892-1860
Phone: 301-496-3577
Fax: 301-402-1214

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Mission Statement

The Ophthalmic Genetics and Visual Function Branch plans and conducts clinical and laboratory research of gene expression, molecular genetics, cell biology, and molecular interactions important to the eye, and applies clinically relevant research findings to the prevention, diagnosis, and treatment of diseases affecting the eye and the visual system.

Structure

The Ophthalmic Genetics and Visual Function Branch comprises the following staff:

Name Title E-mail
Christian Antolik, Ph.D. Biologist antolikc@mail.nih.gov
Kapil Bharti, Ph.D.
PubMed Author Search
Stadtman Tenure-track Investigator kapilbharti@nei.nih.gov
Delphine Blain, Sc.M., M.B.A.
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Certified Genetic Counselor dblain@mail.nih.gov
Brian Brooks, M.D., Ph.D.
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Tenure-track Investigator BrooksB@mail.nih.gov
Janine Davis, Ph.D. Staff Scientist Davisj@nei.nih.gov
Monika Dolinska Research Associate Dolinskam@nei.nih.gov
Benedetto Falsini, M.D.
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Adjunct Investigator falsinib@nei.nih.gov
Alexandra Garafalo, B.S. Research Assistant, eyeGENE® garafaloav@nei.nih.gov
Catherine Geer Administrative Laboratory Manager geerc@nei.nih.gov
Kerry Goetz, M.S. Health Science Program Manager, eyeGENE® Coordinator eyeGENEinfo@nei.nih.gov
Fielding Hejtmancik, M.D., Ph.D.
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Investigator F3h@helix.nih.gov
Brett Jeffrey, Ph.D.
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Staff Scientist jeffreybg@nei.nih.gov
Xiaodong Jiao, M.D. Biologist jiaox@nei.nih.gov
Zhiwei Ma, M.D., Ph.D.
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Staff Scientist mazh@nei.nih.gov
Jairo Mejia Program Assistant mejiae@nei.nih.gov
Vida Ndifor, M.S. Senior Research Assistant, eyeGENE® ndiforv@nei.nih.gov
Rebecca Parrish Research Assistant, eyeGENE® parrishsr@nei.nih.gov
Melissa Reeves, M.S. Technical Laboratory Manager eyeGENEinfo@nei.nih.gov
Tumminia, Santa, Ph.D. Program Officer, eyeGENE® eyeGENEinfo@nei.nih.gov
Sarah Sohraby, M.D., Ph.D.
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Acting Branch Chief sohrabys@nei.nih.gov
Yuri Sergeev, Ph.D.
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Staff Scientist Yuri.V@nih.gov
Amy Turriff, Sc.M.
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Certified Genetic Counselor Turriffa@nei.nih.gov
Xinjing Wang, M.D., Ph.D.
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Staff Scientist Wangx6@nei.nih.gov
Wadih Zein, M.D.
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Staff Clinician zeinw@nei.nih.gov

(Click on the name of the Section to see its activities)

Section/Unit Contact E-mail Phone Number
Unit on Ocular and Stem Cell Translational Research Kapil Bharti, Ph.D. kapilbharti@nei.nih.gov 301-451-9372
Unit on Pediatric, Developmental and Genetic Ophthalmology Brian Brooks, M.D., Ph.D. brooksb@nei.nih.gov 301-451-2238
Ophthalmic Molecular Genetics Section J. Fielding Hejtmancik, M.D., Ph.D. f3h@helix.nih.gov 301-496-8300
DNA Diagnostics Laboratory Xinjing Wang, M.D., Ph.D. Wangx6@nei.nih.gov 301-435-4568
Visual Function Brett Jeffrey, Ph.D. jeffreybg@nei.nih.gov 301-402-2391
eyeGENE® Santa Tumminia, Ph.D. eyeGENEinfo@nei.nih.gov 301-435-3032

Research Overview

As a center of excellence for clinical investigation, basic research and treatment of heritable ocular disorders, the Branch aims to understand developmental, genetic, molecular and cellular aspects of ocular biology in health and disease and to enable, broaden, and strengthen basic and translational science throughout NEI. An overarching goal is to identify the underlying genes, genetic networks, and drug targets in disease and to utilize this knowledge to increase understanding of vision biology and for the rational development of successful therapeutic interventions to slow or reverse disease progression.

The Ophthalmic Genetics Branch has a team of skilled and devoted clinician scientists, molecular geneticists, genetic counselors, and technologists, who have at their disposal a strong array of clinical and molecular genetic diagnostic tools for the investigation of families and patients with inherited retinal disorders. Over many years of clinical research, the Branch has compiled an impressive database of patients with fully characterized phenotypic information on a host of heritable ocular disorders. These disorders are amenable to further molecular genetic analysis and to future treatment protocols.

The Branch also provides:

Some of the Branch's research interests include:

Reviewed: December 2012



Department of Health and Human Services NIH, the National Institutes of Health USA.gov