Genome-wide scan of nsSNPs

Project Summary

The discovery of genetic variation increasing the risk of macular degeneration has revolutionized our understanding of how patients lose vision from this condition. These discoveries have relied upon the study of changes in our DNA sequence in large groups of persons with and without macular degeneration. The genetic risks discovered to date change the sequence of proteins in our bodies. We believe that additional variation in protein sequence will be found to alter the risk of developing macular degeneration or its complications that lead to blindness. We propose to systematically screen all known common variation changing the sequence of proteins to determine if they alter the risk of developing AMD. These experiments are expected to discover new pathways for developing AMD and improve our understanding of how the disease develops.