CBRI Seminar – Joseph Powell – 5th August 2016
Using the transcriptome to understand the genetic mechanisms for common disease
Over the past decade, there has been a marked increase in our understanding of the role of genetic variation in complex traits and human disease, especially via genome-wide association studies (GWAS) that have cataloged thousands of common genetic variants affecting human diseases and other traits. However, the molecular mechanisms by which this genetic variation predisposes individuals to disease are still poorly characterised, impeding the development of therapeutic interventions. The majority of GWAS variants are noncoding, likely manifesting their effects via the regulation of gene expression. Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine.
Dr Joseph Powell is a group leader at the Institute for Molecular Bioscience (IMB), University of Queensland. His lab develops and applies computational genomics approaches to investigate the genetic control of genome regulation and its role in contributing to the susceptibility to disease. He obtained his Ph.D. from the Roslin Institute, University of Edinburgh in 2010 and subsequently moved to Brisbane to work with Professor Peter Visscher, first as a research fellow and then as a team leader. During this time, he co-led the formation of the Consortium for the Architecture of Gene Expression, an international effort to share raw-level transcriptomic and genomics data. Joseph has worked on a range of research projects involving methods, theory, and application around the nexus of quantitative, statistical and population genetics. This has provided a good foundation for his more recent work investigating the genetic architecture regulating gene expression and its role within a systems genetics framework.