Whole Exome Sequencing in Age-Related Macular Degeneration

Margaret A Pericak-Vance, PhD University of Miami

Co-Principal Investigators

William A Scott, PhD University of Miami


Despite recent success finding common genetic variations that influence risk of developing AMD, many causes remain to be identified. One under-studied area is the role of rare genetic variation in determining risk of developing AMD, and recent technological advances have enabled large-scale DNA sequencing efforts to find these rare variations. We seek to understand the role of rare genetic variations in determining risk for AMD by examining a set of individuals with advanced AMD but none of the known genetic risk factors, and a set of individuals without AMD at an older age despite having one or more of the known genetic factors.

Project Details

There are many genes that are linked to the risk of developing age‐related macular degeneration (AMD), but there is still room to discover more. In this proposed project, Drs. Margaret Pericak‐Vance, William Scott, and colleagues will study the DNA of two groups of people that should increase their chances of finding new risk genes. One group has advanced AMD despite not having any of the known risk variants in the genes associated with AMD risk (including CFH and ARMS2) and the other group doesn’t have AMD despite having known risk variants in these genes. These researchers will use new gene reading techniques to look at the “whole exome” or the DNA spelling of the most‐used books in a person’s genetic library. Cataloguing the gene changes in both sets of people with AMD will lead to better understanding of how this disease starts and give clues to future preventions and treatments.