gms | German Medical Science

Genome-wide association studies have identified more than 50 variants at over 30 genomic loci that are associated with age-related macular degeneration (AMD). In addition, a significant burden of rare variants has been detected in four genes. The effect of the majority of the identified common and rare variants is currently unknown. We aim to understand the effect of these genetic variants on the disease mechanisms of AMD using various approaches. We are using serum measurements for components of the complement system and the lipid metabolism, and are correlating the identified biomarkers to genetic variants that have been identified in AMD. In addition, we are using in vitro cell culture systems to understand the local effect of AMD-associated genetic variants. Patient-derived induced pluripotent stem cells are used to generate ocular cell types, including retinal pigment epithelium (RPE) and endothelium. These cells can be cultured on an organ-on-a-chip to model the RPE-Bruch's membrane interface.