Illuminating the Genetic Architecture of Common Eye Disease

阐明常见眼病的遗传结构

• 批准号: 7649051
• 负责人: Steven Owen Moldin
• 金额: $ 5.72万
• 依托单位: UNIVERSITY OF SOUTHERN CALIFORNIA
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-01-01 至 2009-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7649051
• 关键词: Adult; Age related macular degeneration; Architecture; Arts; Blindness; Caring; Clinical; Clinical Trials; Complex; Development; Diabetic Retinopathy; Disease susceptibility; Educational workshop; Environment; Etiology; Eye diseases; Future; Gene Expression; Gene Expression Profiling; Genes; Genetic; Genetic Research; Genomics; Heterogeneity; Knowledge; Lead; Maps; Medical; Methodology; Molecular; Neurosciences; Ophthalmology; Participant; Pathway interactions; Predisposition; Prevention; Primary Angle Closure Glaucoma; Primary Open Angle Glaucoma; Principal Investigator; Process Assessment; Research; Route; Source; Susceptibility Gene; Technology; Translational Research; Translations; Vision; clinical practice; disease diagnosis; gene environment interaction; genetic epidemiology; insight; multidisciplinary; novel; novel therapeutics; programs; therapeutic target; tool; vision science

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.

描述（由申请人提供）：本次研讨会的主要目标是协同多学科研究，促进基因组工具和技术在常见眼部疾病研究中的生物医学应用，从而加快疾病进化的重大发现的速度眼科的诊断、治疗和预防。利用基础视觉科学的此类发现的未来转化研究将有助于确定新疗法开发的目标。研讨会将集中于多学科讨论，讨论复杂病因导致失明的主要原因的遗传学和遗传流行病学方面不断积累的证据、最先进的方法和主要知识差距，包括早期和成人发病的原发性开角眼病青光眼 (POAG)、原发性闭角型青光眼 (PACG)、干性和湿性年龄相关性黄斑变性 (AMD) 和糖尿病性视网膜病变 (DR)。鉴于眼科遗传学最近取得的突破以及用于绘制疾病易感位点和表征基因表达的强大基因组技术的可用性，现在是时候聚集分子和统计遗传学、基因表达谱、基因组学、基础神经科学、视觉等多个领域的科学领导者了。科学和临床眼科学。研讨会的演讲和讨论范围将跨越基因组学、基础视觉科学和临床研究的传统领域，将确定最先进的分析策略，以揭示具有复杂病因的常见眼病的遗传结构。这些方法反过来将加速易感位点的发现，识别环境影响，阐明复杂的基因-基因（G x G）和基因环境（G x E）相互作用，并解决位点和等位基因异质性。我们将利用全面、正式的评估流程来评估研讨会是否实现了其目标。我们预计研讨会最终将对常见眼部疾病的遗传结构产生重要的新见解，从而揭示治疗靶向的分子和途径的丰富来源。研讨会参与者将制定一项行动计划，以激发科学探究的创造性途径，从而加快眼科遗传学和遗传流行病学领域突破性发现的速度。该计划预计将推动这些发现转化为临床实践，并彻底改变医学视力保健。