Success Story: New Genes for Macular Degeneration Discovered

Researchers at Tufts University School of Medicine have discovered several new genes for macular degeneration in various biologic pathways, made possible by genotyping and genetic sequencing. The team was the first to identify rare genetic variants for this disease, which are strong predictors of disease and provide targets for new therapies. Most recently they discovered more rare variants in 3 genes, and demonstrated that rare variants explain disease in some families with the typical form of Age-related Macular Degeneration.