Identification of Novel Macular Disease Genes

Project Summary

Due to the last decade's dramatic breakthroughs in molecular genetic technologies, our understanding of the molecular pathways that take place in the human retina has been greatly enhanced. Researchers are now able to efficiently perform a screen for mutations in a large number of candidate genes and a large set of patients. Dr. Sharon is working to identify novel recessive macular degeneration genes by performing genetic analysis of Israeli families and to add to our knowledge of genes expressed in the developing human macula. Working with colleagues, Dr. Sharon will use the candidate gene approach and genome-wide linkage analyses to identify novel macular degeneration genes. It is hoped that the combination of these approaches will help identify causative genes, enhance our understanding of the pathogenesis of macular degeneration, and possibly provide the basis for better treatments in the future