| Age-Related Macular Degeneration (AMD) is a common, complex disease that is the leading cause of blindness in the elderly in the developed world. The etiology of AMD is multifaceted, with environmental and genetic factors acting against the backdrop of the normal aging process. Given the prevalence of AMD, it is believed that common genetic variants underlie susceptibility for this disease. In my studies, I employed both a candidate gene approach and a genome-wide association testing method to identify variants that modify AMD risk. From these efforts, I discovered a novel protective factor for AMD that implicates melanosome trafficking as a central mechanism contributing to disease pathogenesis. By integrating my findings with current biological evidence from the AMD field, I propose a new model for AMD development in which specific genetic factors control the initiation of early disease events, while other genetic factors regulate progression to late stages of AMD. |
