Circular RNAs As Genome Destabilisers In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$2,163,220.00
Summary
Mutation of genes are hallmarks of both cancer and neurological disorders. My research group has identified roles for circular RNAs in both these processes. Now, we must close the loop by investigating the mechanism of these processes. This will inform not only why these genes are commonly mutated, but by exploiting the highly stable circular RNAs they may provide early prognostic/diagnostic biomarkers and even represent novel therapeutic targets for cancer and Huntington’s disease.
Atypical femoral fractures (AFF) are uncommon, but catastrophic, complications of the anti-osteoporosis medications, bisphosphonates. We aim to identify patients either protected from, or at risk of, AFF by identifying changes in their bone geometry, structure and quality, and genes increasing risk of these fractures. In this way, these cheap and effective anti-osteoporosis treatments can be targeted to patients at the lowest risk of AFF and alternative treatments to those at highest risk.
Reducing The Burden Of Breast Cancer Through Precision Prevention, Targeted Treatment And Enhanced Survivorship
Funder
National Health and Medical Research Council
Funding Amount
$1,491,192.00
Summary
Breast cancer affects 1 in 8 Australian women. Of all the cancers, breast cancer results in the largest number of years of healthy life lost from death and illness. My research will reduce this unacceptable burden of breast cancer for women and their families. Spanning prevention, through treatment to survivorship, it will facilitate reduced breast cancer incidence, more effective treatments and enhanced understanding of the effects of new treatments on ovarian function and fertility.
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.
Structural Biology And Therapeutic Targeting Of Axon Degeneration
Funder
National Health and Medical Research Council
Funding Amount
$1,512,250.00
Summary
The molecular mechanisms underlying SARM1 (sterile alpha and TIR 1) function will be investigated, which will allow design of inhibitors of axon degeneration, which can be developed into therapeutic agents for neurodegenerative disease. Outcomes are not only anticipated to support excellence in basic research, but have potential of assisting health sectors and the economy, by reducing the burden of prevalent neurodegenerative diseases such as peripheral neuropathies and traumatic brain injury.
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.