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Abstract #26702 Published in IGR 12-3
Genetics workshop: Part 1. The era of molecular ophthalmology
Young TL; Drack AVJournal of AAPOS 2009; 13: 36-37
Using the resources and technologies of the Human Genome Project, researchers have made considerable progress toward personalized ophthalmic care. Nearly 1,000 genes are associated with ocular disease. Most genes are responsible for rare, Mendelian disorders, but recent discoveries have identified genes that contribute to common diseases, such as macular degeneration and pseudoexfoliative glaucoma. Screening strategies could identify individuals at risk or who are mutation carriers, and provide the right choice of selective therapy. Pharmacogenomic studies could identify risk factors that influence the effectiveness of ophthalmic medications, or reveal genetic factors that predispose individuals to adverse events. Genedirected therapies (both gene replacement and biological therapies) could result in cures. This course will (1) cover the basics and terminology of molecular genetics, including phenotype definitions (qualitative trait, quantitative trait, syndrome, common complex disorder), and genotype definitions (cytogenetic changes, sequence variants, single nucleotide polymorphism associations, copy number variants, epigenetics, miRNA); (2) provide examples of inherited eye diseases with these genotypic changes; (3) provide examples of treatment mechanisms for selected genetic ocular disorders (replacement molecule therapy, adenoviral vectors); (4) provide an update on animal and human clinical trials for specific genetic eye disorders.LA: English
T.L. Young.
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
