Discovering molecular mechanisms underlying genetic etiology of human disease

Abstract

Many human complex diseases are characterized by dysregulation of immune and inflammatory activity. The success of genome-wide association studies in the past decades has contributed to expanding catalogs of implicated genes and pathways in human disease. However, the disease variants map predominantly to noncoding and intergenic regions of the human genome where functional relevance to a disease could be difficult to elucidate. I will present previous works on large scale mapping of the epigenome and transcriptome of immune cells where we have generated an atlas of highly coordinated genomic changes and defined molecular events that may underpin complex disease risk.