Illuminating the Genetic Architecture of Common Eye Disease

University Of Southern California, Los Angeles CA

Investigators

Abstract

DESCRIPTION (provided by applicant): The principal objective of this workshop will be to synergize multi-disciplinary research and catalyze the biomedical application of genomic tools and technologies to the study of common eye diseases, thereby accelerating the rate of major discoveries that will evolutionize disease diagnosis, treatment and prevention in ophthalmology. Leveraging future translational research of such discoveries from basic vision science will lead to the identification of targets for the development of new therapeutics. The workshop will focus on multidisciplinary discussions of the accumulating evidence, state-of-the-art methodologies and major knowledge gaps in the genetics and genetic epidemiology of leading causes of blindness with complex etiologies, including early- and adult-onset primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG), dry and wet age-related macular degeneration (AMD) and diabetic retinopathy (DR). Given recent breakthroughs in ophthalmic genetics and the availability of powerful genomic technologies for mapping disease susceptibility loci and characterizing gene expression, it is now timely to assemble scientific leaders across multiple fields of molecular &statistical genetics, gene expression profiling, genomics, basic neuroscience, vision science and clinical ophthalmology. Workshop presentations and discussions - the scope of which will cut across the traditional domains of genomics, basic vision science and clinical investigation - will identify state-of-the-art analytic strategies to uncover the genetic architecture of common eye diseases with complex etiologies. Such approaches in turn will accelerate discovery of susceptibility loci, identify environmental effects, elucidate complex gene-gene (G x G) and gene environment (G x E) interactions and resolve locus and allelic heterogeneity. We will utilize a comprehensive and formal assessment process to evaluate whether the workshop achieves its objectives. We expect that ultimately the workshop will yield critical new insights into the genetic architecture of common eye diseases that will reveal a rich source of molecules and pathways for therapeutic targeting. An action plan will be developed by workshop participants to stimulate creative routes of scientific inquiry for accelerating the rate of breakthrough discoveries in ophthalmic genetics and genetic epidemiology. This plan is expected to energize the translation of such discoveries into clinical practice and to revolutionize medical vision care.