Building Decision Support Systems To Combat Emerging Infectious Diseases And Neglected Tropical Diseases: A Precision Public Health Approach
Funder
National Health and Medical Research Council
Funding Amount
$1,562,250.00
Summary
Emerging infectious diseases and neglected tropical diseases cause significant disease burden globally, and pose major health security threats in the Asia Pacific. The frequency and severity of disease outbreaks are increasing, mostly driven by environmental and socio-demographic change. My research program will use cutting-edge technologies and analytics to develop interactive, dynamic and user-friendly decision support systems that optimise surveillance and control of infectious diseases.
Computational Modelling To Understand Early-stage Neurodegeneration
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Rather than attempting to reverse neurodegeneration, therapeutic strategies must target the earliest possible stages of disease, when treatments have the potential to prevent or slow down pathological progression. The proposed project will employ computational modelling using functional MRI to deliver highly efficient and sensitive markers of Familial Alzheimer’s disease and Huntington’s disease progression to inform when in the progression of disease clinical trials should take place.
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.