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eyeGENE® - National Ophthalmic Disease Genotyping Network

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Over the past 15 years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. This remarkable new genetic information highlights the significant inroads that are being made in understanding the medical basis of human ophthalmic diseases. As a result, gene-based therapies are actively being pursued to ameliorate ophthalmic genetic diseases that were once considered untreatable.

The ability to detect disease-causing mutations in many individuals with inherited ophthalmic diseases offers significant benefits for patients and their families. It is now possible to provide genetic testing for patients diagnosed with ocular diseases by screening for these genes. This remarkable opportunity, however, has now created the challenge of providing genetic information to individuals who want to know whether they could benefit from the treatments that are being developed. Unfortunately, this type of DNA testing is not widely available. The National Eye Institute is working with a number of vision research laboratories to make this testing more readily available to patients and their families. These laboratories will collect and maintain relevant information in secure databases that will be available to researchers to help speed the progress toward developing treatments and also help identify those who are most likely to benefit from them.

The Search for Answers

The National Eye Institute (NEI) hosted a meeting on November 10, 2003, to discuss the possible formation of a national collaborative network for ophthalmic research and diagnostic genotyping. Attendees included expert ophthalmic geneticists from the United States, Canada and England, as well as experts in genetic counseling, bioethics, federal regulatory requirements, and representatives from non-profit organizations interested in rare genetic diseases.

The meeting participants reached the consensus that a coordinated effort could and should be made to establish a community resource for ophthalmic genetic disease. This resource would include patient access to diagnostic genotyping, genetic counseling and information services, a patient database that would be shared among researchers, and a genetic specimen repository. The participants predicted that this resource would benefit patients by providing medically useful information and at the same time help to speed research into treatments for these conditions.

The Outcome

The NEI is working with the vision community to create the eyeGENE® (National Ophthalmic Disease Genotyping and Phenotyping) Network. The NEI is committed to facilitate access to already existing CLIA-certified research laboratories within the vision community, as well as aid in the support of establishing additional CLIA-certified laboratories. The Network will assist in developing public and professional awareness of genotype / phenotype resources that are available to people with various ocular genetic diseases, their clinicians, and scientists studying these diseases. The Network will enhance recruitment of patients interested in participating in future clinical trials related to genetic eye diseases.

Because the eyeGENE® program will be a national resource, patients will have greater access to diagnostic gene testing and genetic information. Clinicians and researchers will have access to: diagnostic genetic testing; centralized specimen collection, processing, and repository services, standardized phenotypic descriptors; and a shared database of genotype/phenotype information. This will allow the analysis of larger datasets that are necessary to identify novel genetic risk factors for ocular diseases, and answer pharmaco-genetic and epidemiologic questions of ocular disease.

The Network includes a Coordinating Center, a repository for DNA, several CLIA laboratories and a shared genotype/phenotype database. The goal of the NEI is to augment, not diminish, existing university-based and commercial ventures, while providing a new entry portal with rapid, reliable, and easy access to medical professionals.

Conception and Milestones

The goals and outcomes of this Network are:

For more information about eyeGENE®, please email

Fundus photograph showing retina changes associated with Tay-Sachs disease.

eyeGENE® Philosophy

Access to patient samples coupled to anonymous phenotypic data will augment the pace of ophthalmic genetics research, leading to improved medical decision making, clinical trials, and treatments for genetic eye diseases.

Department of Health and Human Services NIH, the National Institutes of Health