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• W2152803755 startingPage "R59" @default.
• W2152803755 abstract "Genome-wide association studies (GWAS) and other genomic technologies have accelerated the discovery of genes and genomic regions contributing to common human ocular disorders with complex inheritance. Age-related macular degeneration (AMD), diabetic retinopathy (DR), glaucoma and myopia account for the majority of visual impairment worldwide. Over 19 genes and/or genomic regions have been associated with AMD. Current investigations are assessing the clinical utility of risk score panels and therapies targeting disease-specific pathways. DR is the leading cause of blindness in the United States and globally is a major cause of vision loss. Genomic investigations have identified molecular pathways associated with DR in animal models which could suggest novel therapeutic targets. Three types of glaucoma, primary-open-angle glaucoma (POAG), angle-closure glaucoma and exfoliation syndrome (XFS) glaucoma, are common age-related conditions. Five genomic regions have been associated with POAG, three with angle-closure glaucoma and one with XFS. Myopia causes substantial ocular morbidity throughout the world. Recent large GWAS have identified >20 associated loci for this condition. In this report, we present a comprehensive overview of the genes and genomic regions contributing to disease susceptibility for these common blinding ocular disorders and discuss the next steps toward translation to effective gene-based screening tests and novel therapies targeting the molecular events contributing to disease." @default.
• W2152803755 created "2016-06-24" @default.
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• W2152803755 creator A5086641481 @default.
• W2152803755 date "2013-08-19" @default.
• W2152803755 modified "2023-10-16" @default.
• W2152803755 title "Advances in the genomics of common eye diseases" @default.
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• W2152803755 doi "https://doi.org/10.1093/hmg/ddt396" @default.
• W2152803755 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3782072" @default.
• W2152803755 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23962718" @default.
• W2152803755 hasPublicationYear "2013" @default.
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