Differential Gene Expression in Age-Related Macular Degeneration

Abstract

Gene expression is the first step in ascribing function between an associated gene and disease. Understanding how variation in a gene influences expression, particularly in tissues affected by the disease, may help elucidate what influences the phenotypic outcome of that disease. Previous studies of the genetics of age-related macular degeneration (AMD) have identified several risk factors, but have not yet bridged the gap between gene association and identifying a specific mechanism or function that is involved in the pathogenesis of AMD. Advances in genomic technologies, such as RNA sequencing (RNA-seq), single cell RNA-seq, bilsulfite sequencing, and/or whole genome methylation, will be powerful tools for identifying genes/pathways that are differentially expressed in those with AMD versus those without AMD. These technologies should advance the field of AMD research so that appropriate preventive and therapeutic targets can be developed.