Final Report Summary - MACULA (Closing in on missing heritability and immune dysregulation in macular degeneration)
Age-related macular degeneration (AMD) is the most common cause of vision loss in the elderly. The disease is caused by a combination of lifestyle and genetic factors. This project aimed to identify genetic factors that are involved in AMD, and to understand the effect of these genetic factors on the disease process. The project identified genetic factors in the complement system, which is part of the body’s immune system. The complement system is activated when the body is invaded by pathogens and to clear foreign cells, and is tightly regulated to avoid damage to the body’s own cells. In patients carrying these genetic factors, the regulation of the complement is system is impaired, and its activity is dampened less efficiently. As a consequence, the complement system remains active and causes damage to the body’s own cells. The results of this project imply that patients carrying these genetic factors may respond to treatments that inhibit the complement system.