Personalising treatments for genetic diseases

Research Opportunity
PhD, Masters by Research, Honours, Master of Biomedical Science
Biochemistry and Molecular Biology
Bio21 Molecular Science and Biotechnology Institute
Primary Supervisor Email Number Webpage
Dr David Ascher +61390354794 Personal web page

Project Details

Inherited genetic diseases, while rare on their own, have significant health consequences, affecting 1 in 100 births. While the same genetic disease can result from many different mutations on the same gene, the nature of these mutations can dramatically affect patient symptoms and the efficacy of available treatment options. High-throughput sequencing and proteomics approaches now mean that tens of thousands of positional variations within genes or proteins can be identified in a single experiment. The vast majority of such variations are patient specific and require advanced methods to identify those that are important for disease or biological mechanism. Our aim is to be able to, for each mutation/modification and for each gene/protein, scalably and effectively assess the overall consequences of the molecular effects and their potential phenotypic outcomes.

We have developed a range of computational tools to deconvolute the molecular mechanisms of a mutation giving rise to different phenotypes. In collaboration with clinical partners we have shown that even though patients may present the same disease, they may arise from many different mutations that alter a patient’s outcome or how they may respond to a particular treatment. By analysing these mutations and predicting their effects on protein structure and function we are trying to revolutionise treatment strategies, an important step towards personalised medicine.

We are now integrating these predictions into a single computational pipeline to allow the rapid investigation of consequences of genetic mutations on protein structure and function at the molecular level, developing a framework for understanding the mechanism of diseases. In collaboration with clinicians, this is already being used to classify patients, and help guide their treatment. We are also using this information to guide the identification of mutation specific therapies- potential therapies that can reverse these molecular effects. This will ultimately lead to the development of improved and novel personalised treatments for both hereditary genetic diseases and cancer.

Faculty Research Themes


School Research Themes

Cancer in Biomedicine, Molecular Mechanisms of Disease

Research Opportunities

PhD, Masters by Research, Honours, Master of Biomedical Science
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.


Biochemistry and Molecular Biology

Research Group / Unit / Centre

Ascher laboratory: Structural biology and bioinformatics

Research Node

Bio21 Molecular Science and Biotechnology Institute

MDHS Research library
Explore by researcher, school, project or topic.