Understanding Complex Genomic And Biochemical Landscapes In Human Health Microbiology
Funder
National Health and Medical Research Council
Funding Amount
$2,210,520.00
Summary
There is increasing awareness of the critical roles microbes play in health. The microbes in our gut produce chemicals that control everything from our moods, to food metabolism and immune system function. In this proposal leading-edge technologies from the disciplines of microbiology, genomics, mass-spectrometry and computational biology will be used to reveal for the first time how and why these chemicals are produced by microbes in complex systems that are important for human health.
Developing Interpretable Machine Learning Models For Clinical Imaging And Single-cell Genomics
Funder
National Health and Medical Research Council
Funding Amount
$1,312,250.00
Summary
Machine learning methods will be vital to make best use of the deluge of data generated by high-throughput technologies in biomedical science. To get the most out of these models, however, we need to be able to unpack the 'black box'. I will use curated clinical and public research data to benchmark and develop interpretable deep learning models and software tools. These models will be used for breast cancer screening programs and for analysis of complex, large-scale single-cell genomics data.
Harnessing The Power Of Single Cell Sequencing To Advance Biomedical Research
Funder
National Health and Medical Research Council
Funding Amount
$2,013,220.00
Summary
Our ability to sequence the DNA code has advanced rapidly in the last 10 years but this data is large and complex and we need advanced computational and statistical methods to analyse these data. Now we are able to generate this data from individual cells. I will provide the analysis approached that are required in order to use this data to understand the complexity of tissues at a cellular resolution. This will provide deep molecular insights into development and disease.
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.
Gene Discovery And Functional Insights For Neurological And Retinal Disorders
Funder
National Health and Medical Research Council
Funding Amount
$2,163,220.00
Summary
Understanding the genetic drivers of disease is key for the development of disease therapies. Determination of the causal genetic variants in a disorder can be used for future diagnosis, prognostication, and personalised treatment. We have previously identified ~20 novel genes and developed new methods providing genomic diagnoses for 1000s of individuals. In the next five years I will make significant advances in our understanding of what causes diseases such as epilepsy, ataxia and dementia.
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.