Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
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.
Sequencing and assembling microbial community metagenomes in real-time. This project aims to assemble metagenomes directly from environmental samples using nanopore sequencing. Short-read approaches to metagenomics cannot assemble mixed genomes from an environmental sample, so focus on describing which species and genes are present. Long-read nanopore sequencing enables the assembly of full genomes of multiple species in a sample. Assembling complete genomes in important resources such as water ....Sequencing and assembling microbial community metagenomes in real-time. This project aims to assemble metagenomes directly from environmental samples using nanopore sequencing. Short-read approaches to metagenomics cannot assemble mixed genomes from an environmental sample, so focus on describing which species and genes are present. Long-read nanopore sequencing enables the assembly of full genomes of multiple species in a sample. Assembling complete genomes in important resources such as water and soil should lead to deeper understanding of the dynamics, variation and transfer of genetic material within these resources’ microbial communities, strategies to manage microbial diversity, and improved productivity and long-term sustainability for these resources.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE150100031
Funder
Australian Research Council
Funding Amount
$630,000.00
Summary
PacBio long read sequencer for the Ramaciotti Genomics Consortium of NSW. PacBio long read sequencer for the Ramaciotti Genomics Consortium of New South Wales: This will be one of the first PacBio sequencers for a service facility in Australia. Unlike other next-generation sequencers that have read lengths of 100 to 700 bases, the PacBio long read sequencer generates an average read length of 8,000 bases and a maximum of 20,000 bases. It will be used for research in genomics, metagenomics and tr ....PacBio long read sequencer for the Ramaciotti Genomics Consortium of NSW. PacBio long read sequencer for the Ramaciotti Genomics Consortium of New South Wales: This will be one of the first PacBio sequencers for a service facility in Australia. Unlike other next-generation sequencers that have read lengths of 100 to 700 bases, the PacBio long read sequencer generates an average read length of 8,000 bases and a maximum of 20,000 bases. It will be used for research in genomics, metagenomics and transcriptomics.Read moreRead less
Using venoms to map critical and evolutionary conserved vulnerabilities. We have developed and applied new functional genomic approaches to study venom evolution. Using CRISPR screening, we find that unrelated venoms act on cells by exploiting the same vulnerabilities. By functionally mapping these vulnerabilities for all venom classes, we can begin to develop universal venom antidotes. Conversely, much of what we know about venom mechanisms comes from a small percentage of the biodiversity with ....Using venoms to map critical and evolutionary conserved vulnerabilities. We have developed and applied new functional genomic approaches to study venom evolution. Using CRISPR screening, we find that unrelated venoms act on cells by exploiting the same vulnerabilities. By functionally mapping these vulnerabilities for all venom classes, we can begin to develop universal venom antidotes. Conversely, much of what we know about venom mechanisms comes from a small percentage of the biodiversity within a venom, and we have developed genomic tools to study the venom “dark matter”. This work will lead to the full molecular characterisation of venom biodiversity, and new venom components will be useful for research or as novel medicines.Read moreRead less
System-level characterisation of the siphonophore, Indo-Pacific man o' war. The Indo-Pacific man o' war (bluebottle), is a cnidarian from the siphonophore order. These animals frequent Australian beaches in swarms and cause thousands of stings every year. The project proposes to profile the genome, transcriptome, epigenome, and proteome of the bluebottle to gain insight into its life cycle, its behaviour, and toxins. Expected outcomes include the generation of novel information related to bluebo ....System-level characterisation of the siphonophore, Indo-Pacific man o' war. The Indo-Pacific man o' war (bluebottle), is a cnidarian from the siphonophore order. These animals frequent Australian beaches in swarms and cause thousands of stings every year. The project proposes to profile the genome, transcriptome, epigenome, and proteome of the bluebottle to gain insight into its life cycle, its behaviour, and toxins. Expected outcomes include the generation of novel information related to bluebottle gene regulation and its toxin repertoire, which will be highly beneficial for the design of future sting treatment strategies. Given that the bluebottle is a colony made of functionally specialised polyps, this study will also provide significant novel insight into the origins and evolution of animal multicellularity.Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE140100111
Funder
Australian Research Council
Funding Amount
$475,000.00
Summary
Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations. Expanding the genomic frontier from species to strains and individuals to populations: The Ramaciotti Centre for Gene Function Analysis, a consortium of five universities, provides a large number of genomics and transcriptomics analyses. This project will establish an Ion Proton semiconductor-based sequencer and iScan platform to facilitate research breakthroughs in genomics, epigenomics, transcriptomics, an ....Expanding the Genomic Frontier - from Species to Strains and Individuals to Populations. Expanding the genomic frontier from species to strains and individuals to populations: The Ramaciotti Centre for Gene Function Analysis, a consortium of five universities, provides a large number of genomics and transcriptomics analyses. This project will establish an Ion Proton semiconductor-based sequencer and iScan platform to facilitate research breakthroughs in genomics, epigenomics, transcriptomics, and SNP analysis. Cell screening technology will also be established to allow the rapid analysis of cells of interest, prior to genomic / transcriptomic analysis. The increased data output, and concomitant reduction in analysis cost on the new platforms, will expand the genomics frontier, allowing researchers to fully analyse many strains from a single-celled species or many individuals from a population.Read moreRead less
Methods to infer dense genomic information from sparsely genotyped populations. Prediction of phenotype based on DNA polymorphisms or sequence has important applications such as prediction of disease risk in human medicine and prediction of genetic value in plant or animal breeding. This project will enhance precision and lower the cost of association studies leading to substantial increase in accuracy of such predictions. This will allow more effective genetic improvement, particularly of diff ....Methods to infer dense genomic information from sparsely genotyped populations. Prediction of phenotype based on DNA polymorphisms or sequence has important applications such as prediction of disease risk in human medicine and prediction of genetic value in plant or animal breeding. This project will enhance precision and lower the cost of association studies leading to substantial increase in accuracy of such predictions. This will allow more effective genetic improvement, particularly of difficult but important traits such as disease resistance, reduced green-house gas emissions and product quality. The same methods can be extended to improve genetic improvement in plants and better prediction of human disease risk. 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