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Using Current Data to Define New Approach in Age Related Macular Degeneration: Need to Accelerate Translational Research

机译:使用当前数据定义年龄相关性黄斑变性的新方法:需要加快转化研究

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摘要

Age related macular degeneration (AMD) is one of the major retinal degenerative disease of ageing whose complex genetic basis remains undeciphered. The involvement of various other factors like mitochondrial genes, cytoskeletal proteins and the role of epigenetics has been described in this review. Several population based AMD genetic studies have been carried out worldwide. Despite the increased publication of reports, clinical translation still eludes this davastating disease. We suggest models to address roadblocks in clinical translation hoping that these would be beneficial to drive AMD research towards innovative biomarkers and therapeutics Therefore, addressing the need large autopsy studies and combining it with efficient use of bioinformatic tools, statistical modeling and probing SNP-biomarker association are key to time bound resolution of this disease.
机译:年龄相关性黄斑变性(AMD)是衰老的主要视网膜变性疾病之一,其复杂的遗传基础仍未阐明。在这篇综述中已经描述了其他各种因素的参与,如线粒体基因,细胞骨架蛋白和表观遗传学的作用。全球范围内已经进行了几项基于人群的AMD遗传研究。尽管有越来越多的报告发表,但临床翻译仍未排除这种破坏性疾病。我们建议使用模型来解决临床翻译中的障碍,希望这些对推动AMD研究朝着创新的生物标志物和治疗方法发展是有益的。因此,解决大型尸检研究的需要并将其与生物信息工具的有效利用,统计建模和SNP-生物标志物关联的探索相结合是限时解决这种疾病的关键。

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