Anand Swaroop, PhD - "Genetic variants, epigenome and age-related macular degeneration: Making sense of genetic studies"

Anand Swaroop, PhD (Short CV)
Senior Investigator and Chief,
Neurobiology-Neurodegeneration and Repair Laboratory (N-NRL),
National Eye Institute National Institutes of Health,
Bethesda, MD, USA

Abstract
Common healthy and disease traits, such as age-related macular degeneration (AMD),
largely result from interaction of inherited genetic variations with epigenomic changes
associated with aging and environment. Genome-wide association studies (GWAS) have
identified numerous AMD-linked genetic loci, yet their precise contribution(s) to disease
pathology is poorly understood since a vast majority of associated variants are present in
non-coding regions of the genome. We have generated eQTLs and genome topology maps
of the human retina, and I will attempt to provide an integrated analysis of divergent
datasets with DNA methylome to explain how non-coding variants can impact human retinal
phenotypes.