Excellence award for genetic disease research

16 Sep 2015

A University of Queensland researcher has received an award to investigate how differences in genes can affect someone’s susceptibility to disease. 

Dr Joseph Powell, from UQ’s Institute for Molecular Bioscience (IMB), received a $97,210 UQ Foundation Research Excellence Award to develop a computational method for examining how genetic variants contribute to common diseases.

He will also use this method to evaluate dozens of common diseases, including coronary artery disease, Crohn's disease, diabetes, rheumatoid arthritis, ulcerative colitis and schizophrenia, to gain insight into their genetic basis and open up new leads for developing treatments.

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“My research focuses on understanding how DNA sequence variation alters genome regulation and subsequently impacts on an individual’s susceptibility to disease,” Dr Powell said.

“This methods will be made available as user-friendly software, allowing other researchers to efficiently and systematically evaluate the contribution of genetic factors to a range of diseases.”

Genome-wide association (GWA) studies have identified thousands of locations of genetic variation for common diseases.

“These studies have shown that most variants do not change proteins, but are instead located in transcriptionally active regions, suggesting that the majority of variants affect disease susceptibility through gene regulation,” said Dr Powell.

“Disease genomics studies are progressively using large-scale data to understand the biological mechanism of disease, and predict individual risk.

“This method will give a clearer picture of the contribution of genetic factors to many common diseases and potentially lead to improved treatments.”

The UQ Foundation Research Excellence Awards were presented during UQ Research Week on Tuesday 15 September 2015.

The Awards recognise outstanding performance and leadership potential in early career researchers and provide funds to advance their research.

Media: IMB Communications, +61 7 3346 2134, 0418 575 247, communications@imb.uq.edu.au