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.
Transcription factor – enhancer – promoter based regulatory networks. This project aims to develop new understanding on how multicellular organisms (including humans) develop, and how mutations in distant regions of the genome can affect human traits. The way the human genome is interpreted by the cellular machinery is still a mystery. We have a reference sequence and know where the majority of coding genes are, but we are far from understanding how the genome is regulated to generate the divers ....Transcription factor – enhancer – promoter based regulatory networks. This project aims to develop new understanding on how multicellular organisms (including humans) develop, and how mutations in distant regions of the genome can affect human traits. The way the human genome is interpreted by the cellular machinery is still a mystery. We have a reference sequence and know where the majority of coding genes are, but we are far from understanding how the genome is regulated to generate the diversity of cell types in our bodies. Enhancer regions interact with proximal promoters to regulate gene expression level and tissue-specificity. This project aims to develop transcriptional regulatory network models using high throughput chromatin interaction data and expression perturbation to link promoter and enhancers genome-wide.Read moreRead less
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
Synthetic regulators of gene expression. RNA plays many essential roles in cells, from information transfer and regulation of gene expression to scaffolding macromolecular structures and catalysis. Despite these realisations the current approaches to manipulate RNA are limited in many respects. This project will use synthetic biology approaches to engineer synthetic regulators of RNAs in living cells. These studies will provide new tools for use in biological research and provide insights into h ....Synthetic regulators of gene expression. RNA plays many essential roles in cells, from information transfer and regulation of gene expression to scaffolding macromolecular structures and catalysis. Despite these realisations the current approaches to manipulate RNA are limited in many respects. This project will use synthetic biology approaches to engineer synthetic regulators of RNAs in living cells. These studies will provide new tools for use in biological research and provide insights into how natural proteins control gene expression. Furthermore, this project will use these tools to understand the mechanisms of how proteins are synthesised in mammalian mitochondria.Read moreRead less
Characterising structural variation in the canola genome. Characterising structural variation in the canola genome. This project aims to develop and apply genomic tools to identify and characterise structural genome variation in canola, a major Australian export crop, to better understand genome evolution and accelerate canola breeding. Advances in DNA sequencing revolutionise our understanding of crop genomes, their evolution and impact on the inheritance on agronomic traits. Variation of genom ....Characterising structural variation in the canola genome. Characterising structural variation in the canola genome. This project aims to develop and apply genomic tools to identify and characterise structural genome variation in canola, a major Australian export crop, to better understand genome evolution and accelerate canola breeding. Advances in DNA sequencing revolutionise our understanding of crop genomes, their evolution and impact on the inheritance on agronomic traits. Variation of genome structure between individuals could be important in the inheritance of important agronomic traits. Recent advances in technology permit the detailed characterisation of structural variation on a previously unfeasible scale. Anticipated outcomes are enhanced global food security, supporting rural Australian economies, and accelerating the improvement of other major crops.Read moreRead less
Complexities of the mitochondrial transcriptome. This project aims to understand mitochondrial gene expression and energy production. Energy production is important for living things to grow and develop. In mammals, the mitochondria, the energy producing “powerhouses of the cell”, contain their own genetic assembly instructions. This project aims to understand these genetic instructions, revealing how genes control energy production. This project will characterise the genetic instructions, the m ....Complexities of the mitochondrial transcriptome. This project aims to understand mitochondrial gene expression and energy production. Energy production is important for living things to grow and develop. In mammals, the mitochondria, the energy producing “powerhouses of the cell”, contain their own genetic assembly instructions. This project aims to understand these genetic instructions, revealing how genes control energy production. This project will characterise the genetic instructions, the mitochondrial transcriptome and the proteins that control them. These advances are expected to provide a mechanistic understanding of how gene expression responds to changes in cellular energy demands. This knowledge will generate new biotechnological tools for Australian science and will have important long-term implications for improving agriculture and medicineRead 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
Discovery Early Career Researcher Award - Grant ID: DE210100398
Funder
Australian Research Council
Funding Amount
$448,365.00
Summary
The Life And Death Of Plant Genes. My recent work has demonstrated that in contrast to animal genes, many plant genes show presence/absence variation within a species, with associated trait variation. In this project, I will explore models of gene birth and death by comparing genomes of Brassicaceae, including the model Arabidopsis and Brassica crop species. By comparing many genomes I will learn how new genes were born. I will build models that predict the likelihood of gene loss based on a gen ....The Life And Death Of Plant Genes. My recent work has demonstrated that in contrast to animal genes, many plant genes show presence/absence variation within a species, with associated trait variation. In this project, I will explore models of gene birth and death by comparing genomes of Brassicaceae, including the model Arabidopsis and Brassica crop species. By comparing many genomes I will learn how new genes were born. I will build models that predict the likelihood of gene loss based on a gene’s physical environment, function, and expression. The project will build on our understanding of plant genetic diversity. Expected outcomes of this research include the identification of key genomic elements in gene birth and loss and support strategies to improve plant cultivars.Read 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.