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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:

  • 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
Other Name(s): eyeGENE - National Ophthalmic Disease Genotyping Network, National Ophthalmic Disease Genotyping Network (eyeGENE), National Ophthalmic Disease Genotyping Network
Abbreviation: eyeGENE
Parent Organization: National Eye Institute
Supporting Agency: NEI
Resource Type(s): Community building portal, Biomaterial supply resource, Database, Clinical trial, Biomaterial analysis service
Resource: Resource
URL: http://www.nei.nih.gov/resources/eyegene.asp
*Id: nif-0000-00229
Related condition/disease: Genetic eye disease, Family member
Related application: Research
Related to: Resource:One Mind Biospecimen Bank Listing, US Biobank
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
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Uncurated

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Contributors

Aarnaud, Ccdbuser, Yazin



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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.

Facts about Resource:eyeGENERDF feed
AbbreveyeGENE  +
CommentSample type: DNA,
CurationStatuscurated  +
DefiningCitationhttp://www.nei.nih.gov/resources/eyegene.asp  +
DefinitionA 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:

  • 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 ous phenotypic information for researchers
ExampleImageEyeGENE.PNG  +
Has default formThis property is a special property in this wiki.Resource  +
Has roleCommunity building portal  +, Biomaterial supply resource  +, Database  +, Clinical trial  +, and Biomaterial analysis service  +
Idnif-0000-00229  +
Is part ofNational Eye Institute  +
KeywordsFamilial 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  +
LabelResource:eyeGENE  +
ListedbyResource:One Mind Biospecimen Bank Listing  +, and US Biobank  +
ModifiedDate11 December 2014  +
Page has default formThis property is a special property in this wiki.Resource  +
Related applicationResearch  +
Related diseaseGenetic eye disease  +, and Family member  +
SpeciesHuman  +
SuperCategoryResource  +
Supporting AgencyNational Eye Institute  +
SynonymeyeGENE - National Ophthalmic Disease Genotyping Network  +, National Ophthalmic Disease Genotyping Network (eyeGENE)  +, and National Ophthalmic Disease Genotyping Network  +