The role of genetic variation in common diseases

27 Jan 2017

Dr Joseph Powell 

The University of Queensland | 2016 | $425,049

Dr Joseph Powell and his team are investigating how differences in your DNA sequence impact on how disease starts and develops in the body. This NHMRC-funded research is important because it could lead to new approaches to prevent or to treat disease.

Changes in DNA can lead to differences in susceptibility to many diseases. The most common way this occurs is by changing the proteins or the tissues expressed by your genes. Dr Joseph Powell from the Institute for Molecular Bioscience at The University of Queensland uses computer modelling to investigate how these differences in the DNA sequence result in an altered gene expression.

Research into the control of gene expression will enable research scientists to interpret the functions of genes and their protein products. This will provide a clearer picture of the complex regulatory networks that control important biological processes.

‘Our computational genomics group uses large-scale, high-throughput genomics data to investigate how DNA sequence variants contribute to human disease. We are confident that this approach will further our understanding of disease processes and could lead to the development of novel targeted therapies to treat disease in Australia.’

Researchers are studying the conditions under which each gene in the DNA sequence is ‘expressed’, i.e. when, where, and to what extent the gene is stimulated to produce the protein which it encodes.

This information gives clues as to the likely biological role, or mechanism, by which differences in the DNA sequence contributes to disease susceptibility.

Dr Powell said that the last decade has seen a dramatic increase in our understanding of the role of genetic variation in common diseases.

‘We have made substantial contributions to understanding how DNA variants lead to changes in gene expression and linking these changes,’ he said. 

Dr Powell and his team are inspired by the potential for very rapid translation into clinical practice. This research will eventually help to generate a complete map of the effects that the differences in DNA have on gene expression in every cell type in the human body.

‘Work at this frontier will ultimately benefit the broader community through new approaches to the control of specific diseases,’ he said.

Dr Powell won the annual Commonwealth Health Minister’s Award for Excellence in Health and Medical Research for 2016. This prestigious award recognises outstanding individual achievement by a mid-career Australian researcher.

Source: National Health and Medical Research Council website features

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