Approaches and advances in the genetic causes of autoimmune disease and their implications

Genome-wide association studies are transformative in revealing the polygenetic basis of common diseases, with autoimmune diseases leading the charge. Despite the field being just over ten years old, advances in understanding the underlying mechanistic pathways of these conditions, which are the result of a dense multifactorial blend of genetic, developmental and environmental factors, have already been informative, including insights in therapeutic possibilities. Nevertheless, the challenge to identify the actual causal genes and pathways and their biological effects in altering disease risk for many identified susceptibility regions remains. It is this fundamental knowledge that will underpin a revolution in patient stratification, therapeutic target discovery and clinical trial design in the next 20 years. Here we outline recent advances in analytical and phenotyping approaches and the emergence of large cohorts with standardised gene expression data and other phenotypic data that are fuelling a bounty of discovery and improved understanding of human physiology