Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disord ....Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disorders.Read moreRead less
Regulatory RNAs Underlying Genetic Associations With Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$431,201.00
Summary
Ankylosing spondylitis is a chronic inflammatory disease affecting the spine and causing back pain. The diagnosis of the disease is delayed by up to 10 years due to lack of accurate tests. We aim to identify molecular signatures of the disease that might be used to distinguish inflammatory processes typical of the disease and other causes of back pain. This would allow earlier and more accurate diagnosis of the disease and result earlier patient treatment and better health outcomes.
Discovery Early Career Researcher Award - Grant ID: DE150101117
Funder
Australian Research Council
Funding Amount
$327,000.00
Summary
The functional impact of new genes acquired through retrotransposition. Novel copies of genes often arise through retrotransposition of processed messenger RNAs. Many thousands of gene copies have arisen over evolutionary time and some of these have retained functionality while diverging from the parental gene leading to new paralogs under different regulatory regimes. Through analysis of whole-genome sequence data, we are now able to identify very recent gene copies that are not present in the ....The functional impact of new genes acquired through retrotransposition. Novel copies of genes often arise through retrotransposition of processed messenger RNAs. Many thousands of gene copies have arisen over evolutionary time and some of these have retained functionality while diverging from the parental gene leading to new paralogs under different regulatory regimes. Through analysis of whole-genome sequence data, we are now able to identify very recent gene copies that are not present in the reference genomes for various species, giving us the opportunity to explore the effects of new copies on the regulation of the original gene and the surrounding genomic environment into which the new copy is inserted. This project aims to address these important open questions through computational and biochemical approaches.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
Cellular determinants of retrotransposition. This project aims to understand the processes that control retrotransposition in a genome. Transposable elements make up more than 50% of human genomes. The accumulation of retrotransposons through millions of years of evolution has shaped the genomes of all eukaryotic organisms, including humans. Researchers have elucidated mechanisms the host uses to defend the genome against insertional mutagenesis by retrotransposons, but the cellular machinery an ....Cellular determinants of retrotransposition. This project aims to understand the processes that control retrotransposition in a genome. Transposable elements make up more than 50% of human genomes. The accumulation of retrotransposons through millions of years of evolution has shaped the genomes of all eukaryotic organisms, including humans. Researchers have elucidated mechanisms the host uses to defend the genome against insertional mutagenesis by retrotransposons, but the cellular machinery and genomic environments needed for retrotransposition are undefined. This project aims to use models to uncover the mechanisms that control retrotransposition. This is expected to reveal more about human origins.Read moreRead less
TraitCapture: Genomic modelling for plant phenomics under environmental stress. This project aims to develop software to integrate new hyper-spectral and 3D growth models of plant phenomics with population genomics to identify heritable developmental traits across varied environments. Genome wide association studies aim to then be used to identify causal genes. Functional structural plant models incorporating genetic variation will be used to predict growth under simulated stress environments. ....TraitCapture: Genomic modelling for plant phenomics under environmental stress. This project aims to develop software to integrate new hyper-spectral and 3D growth models of plant phenomics with population genomics to identify heritable developmental traits across varied environments. Genome wide association studies aim to then be used to identify causal genes. Functional structural plant models incorporating genetic variation will be used to predict growth under simulated stress environments. The research team unites international industry, the Australian Plant Phenomics Facility, and university statistical geneticists. TraitCapture software will use open standards applicable to both controlled and field environments enabling plant breeders to pre-select adaptive traits to increase crop productivity under environmental stress.Read moreRead less
Evolution and function of fragmented animal mitochondrial genomes. This project will reveal why animal mitochondrial genomes are in pieces, and how fragmented mitochondrial genomes evolve and function. This project will discover whether or not fragmented mitochondrial genomes have functional advantages. Knowledge generated from this project will lead to new approaches to mitochondrial genetic diseases in humans.
Improving access to phylogenomic resources for under-resourced species: a new look at existing tools. This project will have an impact on our understanding of how to most effectively use existing genomic resources to benefit a wider range of species and to better design new genomic resources. By doing so, improved access to genomic resources will be provided to species that currently have few options.
The genetics of four ancient 'Kings' of Sahul and Sunda. This project aims to recover all the genetic information from four ancient humans. Two of these iconic specimens come from Australia and two from Malaysia. We will sequence the entire DNA (genomes) and proteins (proteome) of Mungo Man (Willandra), the Yidinji King (Cairns), the Deep Skull (Borneo) and the Bewah specimen (Malaysian Peninsula). This will provide a better understanding of the settlement of Australia and new knowledge about th ....The genetics of four ancient 'Kings' of Sahul and Sunda. This project aims to recover all the genetic information from four ancient humans. Two of these iconic specimens come from Australia and two from Malaysia. We will sequence the entire DNA (genomes) and proteins (proteome) of Mungo Man (Willandra), the Yidinji King (Cairns), the Deep Skull (Borneo) and the Bewah specimen (Malaysian Peninsula). This will provide a better understanding of the settlement of Australia and new knowledge about the ancient people of Australasia and their relationship to other human populations worldwide. The research will use cutting-edge methods of DNA and protein sequencing of ancient human material and will provide critical reference genomes / proteomes that will anchor future research.Read moreRead less