Understanding The Genetic Basis Of Breast Cancer: Translation To Primary And Secondary Prevention
Funder
National Health and Medical Research Council
Funding Amount
$2,731,372.00
Summary
We have identified >200 regions of the genome that contain variants that increase breast cancer risk. I will now focus on the main challenges i.e. to a) find the remaining genetic risk factors that will collectively explain all of the genetic risk, b) understand how these work, in particular which genes they influence and c) apply this knowledge to find and develop new drugs. Importantly, such drugs could be used not only to treat breast cancer, but also to prevent it in high-risk women.
Pathogenic Repeat Expansions In Ataxia: Advancing Gene Discovery And Genetic Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.
Elucidating The Pathological Role And Predictive Value Of Mental Health Disorder Risk Genes
Funder
National Health and Medical Research Council
Funding Amount
$1,562,250.00
Summary
Mental health disorders such as schizophrenia and depression are common and often debilitating conditions. The genes in our DNA play a large role in who develops these disorders and many risk genes have been identified. We will investigate when and how these risk genes are “switched on” to work out how they cause disease and to accurately predict who is at high risk of developing a mental health disorder. These advances will help us to understand disease causation and to improve treatments.
Investigating Post-transcriptional Gene Regulation In Cancer
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
In this program, I will enhance our understanding of cancer gene regulation and provide novel avenues for the treatment of aggressive tumours. Using own data and that from collaborators, I will determine patterns of gene regulation in blood cancers and identify markers that predict disease outcome. I aim to understand how gene regulation can transform healthy cells into tumour cells and whether personalised treatment can kill tumour cells more effectively and prevent relapse and metastasis.
Saving Sight Through Novel BioTech Innovations For Inherited Retinal Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,534,523.00
Summary
Inherited retinal diseases (IRDs) are the leading cause of blindness in working-aged adults. My work focuses on learning more about IRDs, including the correlation between genes and the degenerative changes in the eye. I am developing new outcome measures to predict who might lose vision faster, and to use in clinical trials. I will then use this knowledge in two clinical trials for new IRD treatments - a gene therapy and an electronic device that is implanted into the eye.
Improving The Synthesis Of Medical Research: The Evidence Synthesis Taxonomy Initiative
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
People who make decisions regarding the health of individuals or a society need trustworthy information to support these decisions, whether they be about the effectiveness of a strategy, the burden of a disease, the accuracy of a medical investigation or the preferences and values of a population. To produce trustworthy evidence, we need to collate and synthesise all of the information available. This work will improve the science behind evidence synthesis and the quality of evidence synthesis.