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.
Preparing Australia For Genomic Medicine: A Proposal By The Australian Genomics Health Alliance
Funder
National Health and Medical Research Council
Funding Amount
$25,000,000.00
Summary
The sequencing of the human genome brings the possibility of more accurate identification of the underlying basis of many diseases. This technology has moved so rapidly, however, that clinical access has been limited. In this application, a national alliance of clinicians, researchers, health economists and policymakers will evaluate the case for clinical genomics across inherited disease and cancer, determine how best to deliver this to the patient and train a capable workforce.
Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
Next generation high throughput lipidomics using adaptive modelling. This project aims to develop a unique high-throughput method to capture the lipidomic profile of human plasma suitable for large human population screening. Lipids are fundamental to every biological system, but our understanding of their regulation in humans have been largely superficial. By incorporating a new lipidomics approach, with genomic data, this project aims to expand our understanding of human biology by identifying ....Next generation high throughput lipidomics using adaptive modelling. This project aims to develop a unique high-throughput method to capture the lipidomic profile of human plasma suitable for large human population screening. Lipids are fundamental to every biological system, but our understanding of their regulation in humans have been largely superficial. By incorporating a new lipidomics approach, with genomic data, this project aims to expand our understanding of human biology by identifying regulators of lipid metabolism. The large diversity in humans necessitate sufficient sample sizes to identify true genetic regulators, but to date techniques capturing phenotypic data (lipids) have been largely limited. It is anticipated that this study will identify new regulators of lipid metabolism in humans.Read moreRead less
Chemical signalling in the sea. This project aims to understand how eggs attract and select sperm, and how the environment influences these interactions. Differential sperm chemotaxis, a form of mate choice involving chemical signalling between eggs and sperm, has only been described in mussels, but may be a widespread form of gamete-level sexual selection. The project will study the biochemical and molecular basis of differential sperm chemotaxis in mussels, and the stability of gamete-level in ....Chemical signalling in the sea. This project aims to understand how eggs attract and select sperm, and how the environment influences these interactions. Differential sperm chemotaxis, a form of mate choice involving chemical signalling between eggs and sperm, has only been described in mussels, but may be a widespread form of gamete-level sexual selection. The project will study the biochemical and molecular basis of differential sperm chemotaxis in mussels, and the stability of gamete-level interactions under different environmental conditions. Improved fundamental knowledge of reproduction in a commercially important marine species may yield future commercial benefits for Australia’s marine food production sectorRead moreRead less
Control points in nitrogen uptake: enhancing the response of cereals to nitrogen supply and demand. Vast amounts of nitrogen fertiliser are applied to cereal crops to maintain yields. By uncovering what limits nitrogen uptake in cereals, this project will provide the scientific basis for improving nitrogen use efficiency and decreasing fertiliser use, with significant economic and environmental benefits.
Physiology and genetics of barley grain germination in the malting and brewing industries. An international research team will provide new scientific information on barley grain germination. This detailed basic knowledge will be immediately applied in breeding programs that are aimed at improving malting and brewing quality in a commercial context. At the same time, the industry's carbon footprint will be significantly reduced.
Mitochondrial Retrograde Signalling in Plants – New Models and Analytical Approaches. Mitochondria are essential organelles involved in energy production and various metabolic and biosynthetic pathways in plant cells. Signals from mitochondria act to regulate nuclear gene expression to coordinate mitochondrial activity with cellular activity, which is called mitochondrial retrograde signalling (MRS). To date our knowledge of the pathways and components involved in MRS is limited to a single mode ....Mitochondrial Retrograde Signalling in Plants – New Models and Analytical Approaches. Mitochondria are essential organelles involved in energy production and various metabolic and biosynthetic pathways in plant cells. Signals from mitochondria act to regulate nuclear gene expression to coordinate mitochondrial activity with cellular activity, which is called mitochondrial retrograde signalling (MRS). To date our knowledge of the pathways and components involved in MRS is limited to a single model system. This proposal seeks to identify additional MRS pathways, characterise components of these pathways and the signals involved. This new knowledge can be used in translational research as a basis to breed plants with altered stress and growth properties.Read moreRead less