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Vol. LIX, No. 5
March 9, 2007
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NEI Program Targets Genetic Eye Diseases

The National Eye Institute, in partnership with the vision research community, has established the National Ophthalmic Disease Genotyping Network, also known as eyeGENE. The goals of the program are to discover the genetic causes of eye diseases, to deliver genetic information to people with inherited eye diseases and to encourage them to participate in clinical trials that are part of a national research effort to find new therapies.

“EyeGENE is a nationwide program that will enhance our ability to connect genes to specific diseases, quicken the pace of gene discoveries and speed research on treatments for blinding eye diseases,” said NEI director Dr. Paul Sieving. “This coordinated effort will accelerate the move of ophthalmology into the era of molecular medicine, in which a disease is diagnosed and treated at the cellular and subcellular levels."

Initially, the eyeGENE program will focus on: corneal dystrophies (genetic conditions in which one or more parts of the cornea lose their normal clarity); retinitis pigmentosa, a progressively blinding retinal condition; glaucoma (optic nerve damage); strabismus (misaligned eyes); retinoblastoma (a cancer of the retina); and cataract (a clouding of the lens of the eye).

Members of the NEI work group that runs the eyeGENE network include (from l) Dr. Nizar Smaoui, NEI DNA Diagnostic Laboratory; Dr. Santa Tumminia, eyeGENE project officer; Dr. Brian Brooks, chair, eyeGENE steering committee; Delphine Blain, genetics counselor; Ajaina Nezhuvingal, eyeGENE coordinator; along with NEI director Dr. Paul Sieving.
Members of the NEI work group that runs the eyeGENE network include (from l) Dr. Nizar Smaoui, NEI DNA Diagnostic Laboratory; Dr. Santa Tumminia, eyeGENE project officer; Dr. Brian Brooks, chair, eyeGENE steering committee; Delphine Blain, genetics counselor; Ajaina Nezhuvingal, eyeGENE coordinator; along with NEI director Dr. Paul Sieving.

The eyeGENE program will operate through a network of laboratories that have been certified to receive and genetically test patient DNA samples for diagnostic purposes. In addition to NEI’s Molecular Diagnostics Laboratory, molecular genetics testing on the samples also will be performed at extramural laboratories located in New York, Massachusetts, Michigan, Missouri, Oregon, California, Texas and Utah.

The eyeGENE program also includes a shared genotype/phenotype database, a centralized repository for blood/DNA/cell lines and a coordinating center. The database will allow for the analysis of larger quantities of data necessary to identify new genetic risk factors for eye diseases. Such analysis eventually may answer questions regarding the prevalence of eye diseases and the effect of drugs on the genes underlying these diseases.

Eye disorders rank ninth in global disease burden, according to the World Health Organization. Approximately 30 million Americans are visually impaired because of cataracts, glaucoma, age-related macular degeneration and diabetic retinopathy. The genetic nature of many of these eye diseases has been recognized since the 1800s, but the pace of discovery has accelerated over the last two decades. Genetic mutations have been found that cause some forms of cataracts, corneal disorders, glaucoma, strabismus and retinal degenerations.

The wealth of genetic information collected over the last 20 years has been remarkable and highlights advances in our understanding of human eye diseases. Several gene-based therapies designed to relieve or avoid biological errors caused by genetic mutations are on the horizon. Because of the opportunities presented by these therapies, we now face the challenge of identifying individuals with inherited blinding disorders who potentially could benefit from these treatments. The ability to detect disease-causing mutations in individuals with inherited eye diseases is a great accomplishment, with significant benefits to those people and their families. However, DNA testing for specific conditions is not widely available and may be difficult to obtain.

The eyeGENE program will help build the foundation for collecting this information and will coordinate what information is already available in the ophthalmology and vision science community.

For more information visit http://www.nei.nih.gov/resources/eyegene.asp.

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