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Vol. LXI, No. 19
September 18, 2009
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NEIís eyeGENE Network Receives 1,000th Sample

Members of the eyeGENE operations working group and the NEI CLIA Diagnostic Laboratory include (seated, from l) Sally Vitez, eyeGENE research technician; Dr. Santa Tumminia, eyeGENE project officer; Kerry Goetz, eyeGENE Center coordinator. Standing are (from l) Delphine Blain, genetic counselor; Melissa Reeves, eyeGENE Center coordinator; Dr. Xinjing Wang, director, NEI CLIA Diagnostic Laboratory; Vida Ndifor, eyeGENE senior research assistant; Dr. Chris Antolik, senior biologist; and Jin Song, biologist.
Members of the eyeGENE operations working group and the NEI CLIA Diagnostic Laboratory include (seated, from l) Sally Vitez, eyeGENE research technician; Dr. Santa Tumminia, eyeGENE project officer; Kerry Goetz, eyeGENE Center coordinator. Standing are (from l) Delphine Blain, genetic counselor; Melissa Reeves, eyeGENE Center coordinator; Dr. Xinjing Wang, director, NEI CLIA Diagnostic Laboratory; Vida Ndifor, eyeGENE senior research assistant; Dr. Chris Antolik, senior biologist; and Jin Song, biologist.

The National Ophthalmic Disease Genotyping and Phenotyping Network, known as eyeGENE, recently received its 1,000th blood sample for genetic eye disease testing.

NEI staff spearheaded the eyeGENE effort after holding a consensus meeting in 2003 with leading medical and ophthalmic geneticists from the U.S., Canada and England. The group included experts in genetic counseling, bioethics and federal regulatory requirements as well as representatives from non-profit organizations interested in rare genetic diseases. The panel ultimately recommended creating the community resource that brings together medical professionals, vision scientists and individual genetic testing laboratories to advance patient care, education and research.

“Over the past decades, scientists have worked diligently to identify nearly 500 genes related to eye and vision disorders,” says NEI director Dr. Paul Sieving. “Now, with the help of eyeGENE, the vision community can continue to advance its genetic research knowledge while offering patients the opportunity to receive a gene-based diagnosis.”

The network responds to the needs of three groups: patients, clinicians and researchers. First, patients agree to contribute their clinical information and DNA to a protected, confidential registry from which they could be selected for future clinical trials. Then, eye or genetics health care providers submit patient blood samples to eyeGENE for molecular DNA diagnoses. In the near future, researchers will be able to access the network’s secure database, which contains genotype and phenotype information that can be used to investigate the causes and cures of genetic eye disorders.

The network has grown significantly since it received the first sample in September 2006. More than 120 registered medical organizations and individual health care professionals throughout the U.S. and Canada are now participating. Participants submit more than 60 total samples per month to the eyeGENE Coordinating Center, which is currently hosted by NEI. The samples are distributed to one of 12 university and private facilities for testing.

Current testing capabilities of eyeGENE include more than 60 genes for more than 30 eye conditions, including many rare diseases such as retinitis pigmentosa and Stargardt disease. In the future, NEI will also house the eyeGENE repository for clinical information and DNA samples that will be accessible to researchers.

For more information about eyeGENE, visit www.nei.nih.gov/resources/eyegene.asp. NIHRecord Icon

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