Ophthalmic Genetics and Visual Function Branch

On this page:

• Mission Statement
• Structure
• Research Overview

Mission Statement

The Ophthalmic Genetics and Visual Function Branch plans and conducts clinical and laboratory research of gene expression 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 visual system, including corneal disease, cataract, retinal diseases, and abnormalities of the visual pathways. Clinical and laboratory approaches to this research will be coordinated and training opportunities in clinical research methodology will be available.

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.	Stadtman Tenure-track Investigator	kapilbharti@nei.nih.gov
Delphine Blain, MS, MBA	Genetic Counselor	Db417p@nih.gov
Brian Brooks, M.D., Ph.D.	Tenure-track Investigator	BrooksB@mail.nih.gov
Benedetto Falsini, M.D.	Adjunct Investigator	falsinib@nei.nih.gov
Fielding Hejtmancik, M.D., Ph.D.	Investigator	F3h@mail.nih.gov
Catherine Geer	Administrative Laboratory Manager	geerc@nei.nih.gov
Brett Jeffrey, Ph.D.	Staff Scientist	jeffreybg@nei.nih.gov
Xiaodong Jiao, M.D.	Biologist	jiaox@nei.nih.gov
Anren Li	Biologist	LiAx@nei.nih.gov
Zhiwei Ma, M.D., Ph.D.	Staff Scientist	mazh@nei.nih.gov
Jairo Mejia	Program Assistant	mejiae@nei.nih.gov
Yuri Sergeev, Ph.D.	Staff Scientist	Yuri.V@nih.gov
Sarah Sohraby, M.D., Ph.D.	Acting Branch Chief	sohrabys@nei.nih.gov
Amy Turiff	Genetic Counselor	Turiffa@nei.nih.gov
Xinjing Wang, M.D., Ph.D.	Staff Scientist	Wangx6@nei.nih.gov
Wadih Zein, M.D.	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 Stem Cells and Translational Research	Kapil Bharti, Ph.D.	kapilbharti@nei.nih.gov	301-496-8300
Unit on Pediatric, Developmental and Genetic Ophthalmology	Brian Brooks, M.D., Ph.D.	brooksb@nei.nih.gov	301-451-2238
Ophthalmic Molecular Genetics	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.	tumminias@nei.nih.gov	301-435-3032

Research Overview

The vision of the Ophthalmic Genetics and Visual Function Branch is to be indisputably recognized as a centre of excellence for clinical investigation, research and treatment of heritable ocular disorders and to train the next generation of vision scientists.

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 then amenable to further molecular genetic analysis and to future treatment protocols. The Branch aims to:

• Develop targeted clinical protocols for heritable ocular disorders.
• Expand a research infrastructure that supports the investigation and molecular genetic diagnosis of heritable ocular diseases. Part of that activity includes oversight of the National Genotyping Initiative (eyeGENE) currently being established by NEI.
• Provide postgraduate training opportunities for the next generation of vision scientists in the investigation and treatment of inherited ocular disorders.

Research Summary

Choroideremia
Choroideremia is caused by mutations in a gene that encodes an escort protein, REP-1, that is necessary for the lipid modification of small ras-related GTPases, called Rab proteins. These proteins are important for normal vesicular trafficking with the cell. Specific research themes are being pursued in the study of this condition including: 1) genotyping of patients who have been given this clinical diagnosis; 2) REP-1 gene expression studies, and studies of the molecular interactions that ensue that will help guide future targeted therapies for CHM; and 3) clinical studies that document the natural history of this condition and account for the preservation of central visual function.

Macular Dystrophy
The study of one family with a dominantly inherited macular dystrophy allowed the mapping and then the discovery of a gene, ELOVL4, which is mutated in affected family members. ELOVL4 is presumed to function in the elongation of very long chain fatty acids, such as docosahexaenoic acid (DHA), which are essential for normal retinal function. In collaboration with colleagues at the University of Alberta, a preclinical trial is planned to study the effect of DHA supplementation on the Elovl4 mouse. Further a clinical trial of DHA supplementation in patients affected by this disorder is planned to occur through the NEI.

Best vitelliform macular dystrophy is another dominantly inherited maculopathy; in this case caused by mutations in the bestrophin gene which is encodes a chloride channel expressed in the retinal pigment epithelium. Controversy still exists as to this concept. We plan to use cell model systems to clarify this question by testing the effect of pharmacologic blockers specific for chloride channels in cells expressing bestrophin mutations.

Other Heritable Eye Disorders
The surgical management of complex strabismus can be challenging. Within this group there is a subset of patients with genetic forms of myopathy, for example, Thomsen's disease. Thomsen's disease or myotonia congenita is a rare inherited muscular excitatory disorder caused by mutations in a chloride channel (CLCN1). The investigation and management of these patients and others offers an opportunity to better understand the effect of conventional strabismus surgery management and improve outcomes.

Reviewed: September 2012