Genetic impacts on health
Our researchers are world leaders in the application of genetic and metabolomic approaches to identify biological markers of complex disease, helping us to find better treatments and ways of preventing these devastating diseases.
Modern research tools allow us to look at all of our genes, to
identify genetic and metabolic biomarkers of complex diseases like
infections and diabetes.
With the advancing obesity plague, WHO estimates that nearly 350 million people world-wide have diabetes, and the problem is increasing in children. Diabetes is a major risk factor for infectious diseases like tuberculosis and sepsis, as well as cardiovascular, neurological, and kidney diseases.
We are investigating the genetic basis to diabetes and extreme outcomes like end-stage renal disease in Western Australian Aboriginal populations.
Ear infections leading to otitis media are the most common reason for young children to visit a doctor, and are a major cause of burst eardrums and deafness in Aboriginal children. We are investigating the genetic basis to otitis media in Western Australian children.
In south-east Asia, there is a particular association between diabetes and sepsis, and people who have a specific form of sepsis caused melioidosis are more like to die quickly. In Thailand, we are identifying metabolic biomarkers that predict which individuals have this form of sepsis so that they can be treated early with appropriate therapy that will reduce the risk of death.
Our group leads an international consortium that is using genetics to understand parasitic infections of resource-poor nations, especially for a disease called leishmaniasis, in India, Brazil and Sudan. We are also sequencing a form of this parasite that occurs in kangaroos in Australia, and comparing it with pathogenic species to understand what makes other forms of the parasite cause disease in humans.
We are also interested in hypospadias, the second most common birth defect in boys. Our Understanding Hypospadias Study is looking at why some boys are born with hypospadias, with a focus on any genes that are involved as well as environmental factors.
Genetics & Health Team:
Head: Professor Jenefer M. Blackwell
Dr Sarra Jamieson, Brightspark Research Fellow in Genetics
Dr Saskia Decuypere, Senior Research Officer in Metabolomics
Ms Joyce Oommen, Research Assistant in Genetics
Ms Genevieve Syn, Research Assistant in Genetics
Affiliated team members:
Mr Richard Francis, Senior Bioinformatician
Ms Denise Anderson, Biostatistician
Dr Michaela Fakiola, Visiting Academic Fellow, Cambridge Institute for Medical Research
Associate Professor Christopher Peacock, UWA, Team leader for Pathogen Genetics
Ms Choo Yu Leng, UWA, Research Assistant, Pathogen Genetics Team
Mr Wei Lu, UWA, Research Officer Bioinformatics, Pathogen Genetics Team