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.
Diagnosing Hereditary Myopathies And Dystrophies With RNA Sequencing: Translating Research Innovations Into Diagnostic Practice
Funder
National Health and Medical Research Council
Funding Amount
$279,725.00
Summary
Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.