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Resource:eyeGENE
| Name: | Resource:eyeGENE |
| Description: | A national network of research laboratories to enhance the nation's capacity for genetic testing of eye disease. They offer testing for affected individuals coupled to a registry of clinical information that is available to the eye research community through a secure, confidential patient registry. eyeGENE will also create a large data set for investigators to identify additional genetic risk factors and to explore the relationship between a genetic disease (genotype) and its clinical manifestation (phenotype). Programs like eyeGENE will drive genomic medicine and become a necessary fabric for personalized medicine.
The National Eye Institute is working with a number of vision research laboratories to make genetic testing more readily available to patients and their families, as well as establishing new ones. 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 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. As a national resource, patients 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 goals and outcomes of this Network are:
|
| Other Name(s): | eyeGENE - National Ophthalmic Disease Genotyping Network, National Ophthalmic Disease Genotyping Network (eyeGENE), National Ophthalmic Disease Genotyping Network |
| Parent Organization: | National Eye Institute |
| Supporting Agency: | NEI |
| Related to: | Resource:One Mind Biospecimen Bank Listing, US Biobank |
| Resource Type(s): | Community building portal, Biomaterial supply resource, Database, Clinical trial, Biomaterial analysis service |
| Keywords: | familial exudative vitreal retinopathy, fzd4, foxc1, abca4, aniridia, pax6, axenfeld - rieger syndrome, pitx2, best's disease, vmd2, bietti's crystalline corneal-retinal dystrophy, cyp4v2, c1qtnf5/ ctrp5, ca4, choroideremia, chm, cnga1, cone rod dystrophy, abca4, congenital cranial dysinnervation disease, kif21a, congenital stationary night blindness, nyx, corneal anterior stromal dystrophy, bigh3, crb1, doyne honeycomb dystrophy, efemp1, glaucoma, cyp1b1, hoxa1, impdh1, juvenile x-linked retinoschisis, xlrs1, krt12, lrp5, meesman's epithelial dystrophy, krt3, mertk, myoc, ndp, optic atrophy, opa1, optn, pantothenate kinase-associated neuropathy, pank2, pattern dystrophy, rds, pde6a, pde6b, phox2a, prpf31, retinitis pigmentosa, retinal degeneration, abca4, rgr, rho, rlbp1, robo3, rp1, rp2, rpe65, rpgr, sall4, sorsby fundus dystrophy, timp3, stargardt disease, elovl4, tulp1, genotype, phenotype, diagnostic, genotyping, clinical trial, genetic eye disease, Blood, DNA, Cell line, genetic testing, treatment, genetics, Ophthalmic disease, Eye |
| Abbreviation: | eyeGENE |
| Resource: | Resource |
| URL: | http://www.nei.nih.gov/resources/eyegene.asp |
| Related condition/disease: | Genetic eye disease, Family member |
| Related application: | Research |
| Id: | nif-0000-00229 |
| Organism: | Human |
| Link to OWL / RDF: | Download this content as OWL/RDF |
Curation status: Curated
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| Abbrev | eyeGENE + |
| Comment | Sample type: DNA, |
| CurationStatus | curated + |
| DefiningCitation | http://www.nei.nih.gov/resources/eyegene.asp + |
| Definition | A national network of research laboratorie … A national network of research laboratories to enhance the nation's capacity for genetic testing of eye disease. They offer testing for affected individuals coupled to a registry of clinical information that is available to the eye research community through a secure, confidential patient registry. eyeGENE will also create a large data set for investigators to identify additional genetic risk factors and to explore the relationship between a genetic disease (genotype) and its clinical manifestation (phenotype). Programs like eyeGENE will drive genomic medicine and become a necessary fabric for personalized medicine.
The National Eye Institute is working with a number of vision research laboratories to make genetic testing more readily available to patients and their families, as well as establishing new ones. 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 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. As a national resource, patients 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 goals and outcomes of this Network are:
|
| ExampleImage |  + |
| Has default formThis property is a special property in this wiki. | Resource + |
| Has role | Community building portal +, Biomaterial supply resource +, Database +, Clinical trial +, and Biomaterial analysis service + |
| Id | nif-0000-00229 + |
| Is part of | National Eye Institute + |
| Keywords | Familial exudative vitreal retinopathy +, Fzd4 +, Foxc1 +, Abca4 +, Aniridia +, Pax6 +, Axenfeld - rieger syndrome +, Pitx2 +, Best's disease +, Vmd2 +, Bietti's crystalline corneal-retinal dystrophy +, Cyp4v2 +, C1qtnf5/ ctrp5 +, Ca4 +, Choroideremia +, Chm +, Cnga1 +, Cone rod dystrophy +, Congenital cranial dysinnervation disease +, Kif21a +, Congenital stationary night blindness +, Nyx +, Corneal anterior stromal dystrophy +, Bigh3 +, Crb1 +, Doyne honeycomb dystrophy +, Efemp1 +, Glaucoma +, Cyp1b1 +, Hoxa1 +, Impdh1 +, Juvenile x-linked retinoschisis +, Xlrs1 +, Krt12 +, Lrp5 +, Meesman's epithelial dystrophy +, Krt3 +, Mertk +, Myoc +, Ndp +, Optic atrophy +, Opa1 +, Optn +, Pantothenate kinase-associated neuropathy +, Pank2 +, Pattern dystrophy +, Rds +, Pde6a +, Pde6b +, Phox2a +, Prpf31 +, Retinitis pigmentosa +, Retinal degeneration +, Rgr +, Rho +, Rlbp1 +, Robo3 +, Rp1 +, Rp2 +, Rpe65 +, Rpgr +, Sall4 +, Sorsby fundus dystrophy +, Timp3 +, Stargardt disease +, Elovl4 +, Tulp1 +, Genotype +, Phenotype +, Diagnostic +, Genotyping +, Clinical trial +, Genetic eye disease +, Blood +, DNA +, Cell line +, Genetic testing +, Treatment +, Genetics +, Ophthalmic disease +, and Eye + |
| Label | Resource:eyeGENE + |
| ModifiedDate | 8 January 2013 + |
| Page has default formThis property is a special property in this wiki. | Resource + |
| RelatedTo | Resource:One Mind Biospecimen Bank Listing +, and US Biobank + |
| Related application | Research + |
| Related disease | Genetic eye disease +, and Family member + |
| Species | Human + |
| SuperCategory | Resource + |
| Supporting Agency | NEI + |
| Synonym | eyeGENE - National Ophthalmic Disease Genotyping Network +, National Ophthalmic Disease Genotyping Network (eyeGENE) +, and National Ophthalmic Disease Genotyping Network + |
