All authors, except R. A., work at the National Eye Institute at the National Institutes of Health and are involved in daily operations of the eyeGENE® Network. R. A.'s clinical laboratory has been supported by the eyeGENE® Network under Contract No. HHS-N-260-2007-00001-C and she has received samples for clinical diagnostic testing. None of the authors have any other conflicts to report.
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing
Article first published online: 5 JUN 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 2, pages 190–197, August 2013
How to Cite
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing., , , .
- Issue published online: 9 JUL 2013
- Article first published online: 5 JUN 2013
- Accepted manuscript online: 10 MAY 2013 08:06AM EST
- Manuscript Revised: 8 MAY 2013
- Manuscript Accepted: 8 MAY 2013
- Manuscript Received: 9 APR 2013
- National Institutes of Health
- clinical trials;
- diagnostic genotyping;
- genetic testing;
- ocular genetics;
- patient registry
Molecular genetics and genomics are revolutionizing the study and treatment of inherited eye diseases. In recognition of the impact of molecular genetics on vision and ophthalmology, the National Eye Institute established the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) as a multidirectional research initiative whereby a clinical component for patients diagnosed with inherited eye disease fosters research into the causes and mechanisms of these ophthalmic diseases. This is accomplished by broadening access to genetic diagnostic testing and maintaining a repository of DNA samples from clinically characterized individuals and their families to allow investigations of the causes, interventions, and management of genetic eye disorders. The eyeGENE® Network currently includes Clinical Laboratory Improvement Amendments (CLIA)-certified diagnostic laboratory partners, over 270 registered clinical organizations with 500 registered users from around the United States and Canada, and is now testing approximately 100 genes representing 35 inherited eye diseases. To date, the Network has received 4400 samples from individuals with rare inherited eye diseases, which are available for access by the vision research community. eyeGENE® is a model partnership between the U.S. federal government, eye health care providers, CLIA-approved molecular diagnostic laboratories, private industry, and scientists who represent a broad research constituency.