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.
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.