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ready eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network


General Information
The National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE®) is a genomic medicine initiative created by the National Eye Institute (NEI), part of the National Institutes of Health (NIH), in partnership with clinics and laboratories across the vision research community. The core mission of eyeGENE® is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatments. eyeGENE® was designed to achieve this goal through clinical and molecular diagnosis coupled with granting controlled access to clinical and genetic information in a data repository, to DNA in a biorepository, and to individuals consented to participate in research and clinical trials. The eyeGENE® Network currently includes a Coordinating Center at the NEI, CLIA†-approved molecular genetic testing laboratories around the Nation, a patient registry, controlled-access centralized biorepository for DNA, and a curated de-identified genotype / phenotype database. These components stimulate patient and eye health care provider interest in genetics-based clinical care and generate involvement in ophthalmic research, thereby accelerating vision research and treatment development for these diseases.


Countries that developed this resource United States

Created in 2006

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How to cite this record eyeGENE; eyeGENE: The National Ophthalmic Genotyping and Phenotyping Network; DOI:; Last edited: Jan. 8, 2020, 2:10 p.m.; Last accessed: Jan 27 2022 8:36 a.m.

This record is maintained by NEI Data Commons  (goetzke)  ORCID

Record added: July 24, 2017, 1:59 p.m.
Record updated: Jan. 8, 2020, 9:07 a.m. by The FAIRsharing Team.

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eyeGENE(R): a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing.

Blain D,Goetz KE,Ayyagari R,Tumminia SJ
Clin Genet 2013

View Paper (PubMed) View Publication

EyeGENE--National Ophthalmic Disease Genotyping Network.

Insight 2009

View Paper (PubMed)

eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.

Goetz KE,Reeves MJ,Tumminia SJ,Brooks BP
Curr Opin Ophthalmol 2012

View Paper (PubMed) View Publication

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