Unraveling the 10q AMD Risk Locus

摘要 视网膜相关性黄斑变性（AMD）是发达国家中严重视力丧失的最常见原因。 仅在美国就有1000多万人受到影响。大约三分之一的人 75岁的人在一定程度上受到影响。这种疾病很大一部分是遗传性的，具有重大的遗传风险 1号和10号染色体上的因子。 在这项研究中，我们将利用分子遗传学，最先进的计算机辅助图像分析， 大量患者群体、充分表征的供体眼组织、诱导多能干细胞和CRISPR 基于基因组编辑，以确定AMD基因座变异如何增加AMD风险的分子基础。 这些研究将为AMD的病理生理机制提供新的见解，这将是有价值的， 开发更具体的诊断方法和更有效的治疗方法。

ABSTRACT Age-related macular degeneration (AMD) is the most common cause of severe visual loss in the developed world, affecting more than 10 million people in the United States alone. Approximately 1 in 3 people over the age of 75 are affected to some degree. A significant fraction of this disease is genetic, with major genetic risk factors on chromosomes 1 and 10. In this study, we will take advantage of molecular genetics, state of the art computer-assisted image analysis, large patient populations, well characterized donor eye tissue, induced pluripotent stem cells and CRISPR based genome editing to determine the molecular basis of how variations in AMD loci increase risk of AMD. These studies will provide new insight into the pathophysiologic mechanisms of AMD that will be valuable for the development of more specific diagnostic methods and more effective therapies.