Nguyen Tu, Urrutia-Cabrera Daniel, Liou Roxanne Hsiang-Chi, Luu Chi D, Guymer Robyn, Wong Raymond Ching-Bong
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC, Australia.
Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC, Australia.
Front Cell Dev Biol. 2021 Jan 11;8:604220. doi: 10.3389/fcell.2020.604220. eCollection 2020.
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in people over 50 years old in developed countries. Currently, we still lack a comprehensive understanding of the genetic factors contributing to AMD, which is critical to identify effective therapeutic targets to improve treatment outcomes for AMD patients. Here we discuss the latest technologies that can facilitate the identification and functional study of putative genes in AMD pathology. We review improved genomic methods to identify novel AMD genes, advances in single cell transcriptomics to profile gene expression in specific retinal cell types, and summarize recent development of models for studying AMD using induced pluripotent stem cells, organoids and biomaterials, as well as new molecular technologies using CRISPR/Cas that could facilitate functional studies of AMD-associated genes.
年龄相关性黄斑变性（AMD）是发达国家50岁以上人群不可逆视力丧失的最常见原因。目前，我们对导致AMD的遗传因素仍缺乏全面了解，而这对于确定有效的治疗靶点以改善AMD患者的治疗效果至关重要。在此，我们讨论了可促进对AMD病理中假定基因进行鉴定和功能研究的最新技术。我们回顾了用于鉴定新型AMD基因的改进基因组方法、单细胞转录组学在特定视网膜细胞类型中分析基因表达的进展，并总结了使用诱导多能干细胞、类器官和生物材料研究AMD的模型的最新进展，以及使用CRISPR/Cas的新分子技术，这些技术有助于对AMD相关基因进行功能研究。
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