eyeGENE^TM - National Ophthalmic Disease Genotyping Network

On this page:

• Background
• The Search for Answers
• The Outcome
• Conception and Milestones
• Ongoing Developments
• Potential Participants
• Health Care Professionals
• Genes and Diseases
• Organizational Chart
• eyeGENE^TMFunding Trends and Supported Activities
• Congressional Support for eyeGENE^TM
• Additional Resources on Genetics

Background

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 help to speed research into treatments for these conditions.

The Outcome

The NEI is working with the vision community to initiate an eyeGENE^TM - National Ophthalmic Disease Genotyping 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^TM 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 centralized repository for blood/DNA/cell lines, 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

• Summer 2003—Initial concept design
• November 10, 2003—Concept meeting held. Title: A National Collaborative Network for Ophthalmic Research and Diagnostic Genotyping
• February 6, 2004—National Advisory Eye Council concept clearance
• December 23, 2004—Release date Supplement Notice
• December 2004—Initiate discussions of Database Prototype
• March 11, 2005—Receipt of Supplement applications
• June 2005—Selection of Supplement Recipients
• July 7, 2005—Database Prototype
• Fall 2005—Formation of eyeGENE^TM Steering Committee
• January 11, 2006—First organizational meeting of the eyeGENE^TM Network
• September 1, 2006—Database is operational in a limited fashion
• September 20, 2006—Receipt and process of first sample through the eyeGENE^TM Network

Ongoing Developments

The first organizational meeting of the eyeGENE^TM Network was convened on January 10th-11th 2006 to discuss the milestones necessary to launch the eyeGENE^TM initiative. Participants included members of the ophthalmic, optometric and genetic communities. Experts in bioethics and federal regulatory requirements were also present as were members of the international vision research community.

The fundamental working elements of eyeGENE^TM include the Steering Committee, an Operations Workgroup, the NEI Intramural Research Program CLIA diagnostic laboratory and a group of extramural clinicians and researchers from the vision community who have received NEI grant supplements to be a part of this Network.

The goals and outcomes of this Network are:

• To facilitate research on the discovery of the genetic causes of ocular diseases
• To provide accurate diagnostic genotyping to patients with inherited eye diseases
• To develop public and professional awareness of genotype / phenotype resources for people with inherited diseases that affect the visual system, their clinicians and for scientists studying these diseases
• To identify and engage broad patient populations in therapeutic clinical trials designed to diagnose, prevent and treat genetic eye diseases
• To allow for the analysis of larger datasets necessary to identify novel genetic risk factors for ocular diseases
• To drive refinement / standardization of clinical phenotypic descriptors, especially for complex ocular diseases
• To develop and validate cutting-edge genomic technologies and resources for the diagnosis of inherited ocular diseases
• To develop a shared database of genotype / phenotype information
• To provide a repository of DNA coupled to anonymous phenotypic information for researchers

For more information about eyeGENE^TM, please contact:

eyeGENE^TM Coordinator
eyeGENEinfo@nei.nih.gov

eyeGENE^TM 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.