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.
Understanding prokaryotic small proteins from context. Prokaryotic small proteins are increasingly recognised to play important biological roles but have been largely overlooked due to the lack of adequate tools to study them. This project aims to develop new methods to identify and predict the functions of small proteins from microbial communities by studying sequence patterns in their genomes. These predicted functions will be confirmed in the laboratory, leading to a catalogue of newly charac ....Understanding prokaryotic small proteins from context. Prokaryotic small proteins are increasingly recognised to play important biological roles but have been largely overlooked due to the lack of adequate tools to study them. This project aims to develop new methods to identify and predict the functions of small proteins from microbial communities by studying sequence patterns in their genomes. These predicted functions will be confirmed in the laboratory, leading to a catalogue of newly characterised small proteins from a diverse range of habitats and geographies. By creating new ways to study the role of small proteins in the global microbiome, we will provide the foundational knowledge required to leverage these proteins for use in biotechnology. Read moreRead less
Genome evolution & adaptation of the multinuclear wheat stripe rust fungus. Animals and plants package their genomes into a single nucleus within each cell. In contrast, millions of fungal species accommodate multiple nuclei containing individual haploid genomes. It is currently unknown what the evolutionary implications are for this unusual genome division into multiple nuclei. Here we explore the evolutionary consequences of genome division into multiple nuclei for the first time by applying c ....Genome evolution & adaptation of the multinuclear wheat stripe rust fungus. Animals and plants package their genomes into a single nucleus within each cell. In contrast, millions of fungal species accommodate multiple nuclei containing individual haploid genomes. It is currently unknown what the evolutionary implications are for this unusual genome division into multiple nuclei. Here we explore the evolutionary consequences of genome division into multiple nuclei for the first time by applying cutting edge genome biology tools and algorithms. The economically significant study system is the devastating wheat stripe rust fungus. This pathogen costs Australian farmers over $100 million a year. New understanding is expected to lead to better disease management, reduced fungicide applications, and increased yields.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE190100008
Funder
Australian Research Council
Funding Amount
$387,103.00
Summary
Exploring the evolution and ecology of non-photosynthetic Cyanobacteria. This project aims to contribute and expand our rudimentary understanding of non-photosynthetic Cyanobacteria by obtaining representative genome sequences using metagenomics. The dogma that all Cyanobacteria are photosynthetic has recently been challenged by the discovery of non-photosynthetic lineages. This project expects to obtain representative genome sequences using metagenomics to predict surface structures. The expect ....Exploring the evolution and ecology of non-photosynthetic Cyanobacteria. This project aims to contribute and expand our rudimentary understanding of non-photosynthetic Cyanobacteria by obtaining representative genome sequences using metagenomics. The dogma that all Cyanobacteria are photosynthetic has recently been challenged by the discovery of non-photosynthetic lineages. This project expects to obtain representative genome sequences using metagenomics to predict surface structures. The expected outcomes from this project includes providing insights into the function and evolution of non-photosynthetic Cyanobacteria and their viruses, and pure or enriched cultures to enable future studies.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE230100178
Funder
Australian Research Council
Funding Amount
$453,913.00
Summary
Fast, lightweight and live nanopore sequencing analysis. This project aims to address limitations in nanopore sequencing (latest emerging technology in genomics) by applying advanced computational methods. This project expects to create new knowledge in bioinformatics and computer science through innovative approaches that leverage the live data streaming capability of nanopore devices to deliver results rapidly, or in real-time. Expected outcomes include improved, highly efficient analysis meth ....Fast, lightweight and live nanopore sequencing analysis. This project aims to address limitations in nanopore sequencing (latest emerging technology in genomics) by applying advanced computational methods. This project expects to create new knowledge in bioinformatics and computer science through innovative approaches that leverage the live data streaming capability of nanopore devices to deliver results rapidly, or in real-time. Expected outcomes include improved, highly efficient analysis methods and designs for future creation of custom computer hardware for nanopore analysis. This will facilitate widespread adoption of nanopore technology in bioscience research and applied domains (health, agriculture, ecology, biosecurity and forensics), including for portable in-the-field applications. Read moreRead less
Discovery of Novel Bacteriophage with the Capacity to Modulate Gut Bacteria. This project aims to experimentally validate the largest ever collection of bacterial viruses (bacteriophages) within the gut microbiome. This project expects to generate new knowledge in the area of bacteriophage biology and genomics by using the innovative approaches of wet-lab and bioinformatic genome analyses. Expect outcomes of this project include the discovery of novel phages using bioinformatics, wet-lab validat ....Discovery of Novel Bacteriophage with the Capacity to Modulate Gut Bacteria. This project aims to experimentally validate the largest ever collection of bacterial viruses (bacteriophages) within the gut microbiome. This project expects to generate new knowledge in the area of bacteriophage biology and genomics by using the innovative approaches of wet-lab and bioinformatic genome analyses. Expect outcomes of this project include the discovery of novel phages using bioinformatics, wet-lab validation of their activity and characterisation of their potential to contribute new bacterial host metabolism. This should provide benefits, such as advancement to our understanding of bacteriophages, improved bioinformatic software, and a characterised collection of commercially valuable bacterial strains and phages.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
Accelerating pulse breeding using machine learning. Advances in genomics and high throughput phenotyping are generating vast quantities of data that can be applied for crop improvement, however the lack of computational analysis tools and approaches limits the full exploitation of this data. Pulse legumes are currently under utilised in Australian agriculture due to poor adaptation, however they offer significant benefits both for soil improvement and the production of high protein crops. This p ....Accelerating pulse breeding using machine learning. Advances in genomics and high throughput phenotyping are generating vast quantities of data that can be applied for crop improvement, however the lack of computational analysis tools and approaches limits the full exploitation of this data. Pulse legumes are currently under utilised in Australian agriculture due to poor adaptation, however they offer significant benefits both for soil improvement and the production of high protein crops. This project will develop machine learning (ML) tools for the analysis of pulse legume crop traits and their association with genomic variation to accelerate the breeding of high performance pulse legumes for Australian growers.Read moreRead less
Who’s who in the plant gene world? As many more plant genomes are sequenced, the bottleneck is being able to interrogate and translate this data into applications for crop improvement. This project will develop and apply a population graph database, hosting genome data for the world’s major crops and their wild relatives, allowing the characterisation of gene diversity on an unparalleled scale. Analysis of this data will reveal the presence/absence and sequence diversity for classes of genes for ....Who’s who in the plant gene world? As many more plant genomes are sequenced, the bottleneck is being able to interrogate and translate this data into applications for crop improvement. This project will develop and apply a population graph database, hosting genome data for the world’s major crops and their wild relatives, allowing the characterisation of gene diversity on an unparalleled scale. Analysis of this data will reveal the presence/absence and sequence diversity for classes of genes for important agronomic traits including disease resistance, flowering time and legume nitrogen fixation which will enable plant breeders to identify and apply novel genes and allelic variants for use in breeding programmes, accelerating the production of improved crop varieties.Read moreRead less
Understanding the determinants of age-related muscle wasting in females . This project aims to investigate the fundamental mechanisms underlying age-related muscle wasting in females. Females live longer than males and are more susceptible to the consequences of muscle ageing. Yet, our current knowledge is overwhelmingly inferred from findings from male cohorts. By comprehensively mapping the functional, molecular and epigenetic mechanisms of ageing in female muscle, this project will generate n ....Understanding the determinants of age-related muscle wasting in females . This project aims to investigate the fundamental mechanisms underlying age-related muscle wasting in females. Females live longer than males and are more susceptible to the consequences of muscle ageing. Yet, our current knowledge is overwhelmingly inferred from findings from male cohorts. By comprehensively mapping the functional, molecular and epigenetic mechanisms of ageing in female muscle, this project will generate new, fundamental knowledge that will allow a unique interpretation of previous research through a sex-specific lens. This knowledge will contribute to better inform sex-specific models of research and practice in the future, ultimately delivering economic and social benefits for Australia and international communities.Read moreRead less