National Ophthalmic Disease Genotyping and Phenotyping Network - eyeGENE

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The eyeGENE Network was designed to gather and manage molecular diagnostic and phenotypic clinical data for use in facilitating ophthalmic disease research by the vision research community. Individuals have been recruited into the eyeGENE Network from academic centers, private practices and the NEI. Referring eye health care providers were required to complete an online registration, obtain informed consent and assure that genetic counseling will be provided. Phenotypic/clinical information was entered via a secure web-based eyeGENE-specific database by referring eye health care providers. In consultation, DNA was sent to Network CLIA labs for molecular diagnostic testing on specific disorders, while the remainder is stored at the eyeGENE Repository. The Coordinating Center, based at NEI, manages the centralized repository for blood/DNA and the genotype/phenotype data. The Coordinating Center also manages the referral of clinical genetic testing for patients submitted from participating clinics to a Network CLIA-certified lab. CLIA labs provide molecular genetic diagnostic reports which are incorporated into the eyeGENE data set, whereupon the Coordinating Center contacts the referring clinician and reports the test results. An external Steering Committee provides opinions regarding scientific, ethical, and management issues relating to eyeGENE. Over 550 individuals representing over 300 clinical organizations were registered with the Network. Registered clinics enrolled patients with eye conditions including: Achromatopsia, Albinism, Aniridia and other developmental eye anomalies, Axenfeld-Rieger Syndrome, Best Disease, Bietti's Crystalline Corneo-Retinal Dystrophy. Choroideremia, Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS), Cone Rod Dystrophy, Congenital Cranial Dysinnervation Diseases (CCDD), Congenital Stationary Night Blindness, Corneal Dystrophy, Doyne Honeycomb Dystrophy, Familial Exudative Vitreal Retinopathy, Glaucoma, Hermansky-Pudlak Syndrome, Infantile Neuroaxonal Dystrophy (INAD), Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), Lowe Syndrome, Microphthalmia and Anophthalmia, Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), Optic Atrophy Type 1, Pantothenate Kinase-associated Neuropathy (PKAN), Pattern Dystrophy, Retinitis Pigmentosa (RP) and other retinal degenerative diseases, Retinoblastoma, Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, Usher Syndrome. Over 6,000 participants were enrolled and over 30,000 samples have been collected and stored in the repository. Samples and corresponding de-identified clinical and genetic information are available to vision researchers with an approved research project. eyeGENE has 19 active research studies that request access to data and/or DNA samples and in some cases eyeGENE has been a recruitment tool for additional independent studies and treatment trials. The eyeGENE Network serves as a model of precision medicine for rare diseases. It also serves as a model for broad-based community partnerships.