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.
Discovery Early Career Researcher Award - Grant ID: DE220100230
Funder
Australian Research Council
Funding Amount
$365,000.00
Summary
Investigating the Genetic Basis of Human Intrinsic Capacity. Intrinsic capacity is a new concept introduced by experts at the World Health Organisation to promote healthy ageing. It is defined as the composite of an individual’s physical and mental capacities, based on measures of five criteria; cognitive, sensory, locomotor, vitality and psychological. It is a genetically predetermined trait, but is influenced by a range of environmental stimuli. Applying a cutting-edge genetic methodology on b ....Investigating the Genetic Basis of Human Intrinsic Capacity. Intrinsic capacity is a new concept introduced by experts at the World Health Organisation to promote healthy ageing. It is defined as the composite of an individual’s physical and mental capacities, based on measures of five criteria; cognitive, sensory, locomotor, vitality and psychological. It is a genetically predetermined trait, but is influenced by a range of environmental stimuli. Applying a cutting-edge genetic methodology on big biobank datasets, this project aims to examine the role of genetics and the environment to explain the variability of intrinsic capacity between individuals. Understanding the biological basis of intrinsic capacity has major implications for scientific research in healthy ageing and mental wellbeing.Read moreRead less
Quantitative Metagenomics. This project aims to revolutionize our view of the microbial world once more by transforming microbiome studies from relative counts of organisms to actual numbers of microbes. This project expects to impact all the microbiome studies that are being performed worldwide by unveiling the actual numbers of microbes. Expected outcomes of this project include new techniques to enumerate the number of bacteria in different environments and new approaches to measure gene expr ....Quantitative Metagenomics. This project aims to revolutionize our view of the microbial world once more by transforming microbiome studies from relative counts of organisms to actual numbers of microbes. This project expects to impact all the microbiome studies that are being performed worldwide by unveiling the actual numbers of microbes. Expected outcomes of this project include new techniques to enumerate the number of bacteria in different environments and new approaches to measure gene expression within individual bacteria in any environment that will be demonstrated with complex microbial communities. This should provide significant benefits because microbes affect every aspect of our lives and those effects are driven by how many microbes are present.Read moreRead less
Human identification, ancient DNA and genomics. This project aims to develop and apply a novel targeted sequence capture and high throughput DNA sequencing approach to simultaneously type thousands of informative identity, ancestry and phenotype markers in a single assay to facilitate identification of unknown suspects and missing persons. DNA based human identification is both critical and central to criminal and coronial investigations, disaster-victim and missing persons identification, repat ....Human identification, ancient DNA and genomics. This project aims to develop and apply a novel targeted sequence capture and high throughput DNA sequencing approach to simultaneously type thousands of informative identity, ancestry and phenotype markers in a single assay to facilitate identification of unknown suspects and missing persons. DNA based human identification is both critical and central to criminal and coronial investigations, disaster-victim and missing persons identification, repatriation of war dead and counter-terrorism operations. Persistent technological and conceptual issues associated with the application of standard procedures to trace degraded DNA, or when profiles have no match in DNA databases, limit their application to real-world human identification problems.Read moreRead less
The birth and death of mammalian sex chromosomes. This project aims to unravel the molecular mechanisms that underlie the transition from autosome to sex chromosome and progressive sex chromosome differentiation in mammals. Monotremes are the only mammalian species with a sex chromosome system that consists of ten sex chromosomes in platypus and nine in echidna. This project will analyse the genetic and epigenetic composition and organisation of the monotreme autosomes that evolved into sex chro ....The birth and death of mammalian sex chromosomes. This project aims to unravel the molecular mechanisms that underlie the transition from autosome to sex chromosome and progressive sex chromosome differentiation in mammals. Monotremes are the only mammalian species with a sex chromosome system that consists of ten sex chromosomes in platypus and nine in echidna. This project will analyse the genetic and epigenetic composition and organisation of the monotreme autosomes that evolved into sex chromosomes in other mammals and compare individual platypus and echidna sex chromosomes to discover how sex chromosomes come to be, differentiate and ultimately are replaced by new sex chromosomes.Read moreRead less
ARC Centre of Excellence in Plant Cell Wall Biology. The ARC Centre for Plant Cell Wall Biology will define the regulatory mechanisms that control molecular, enzymic and cellular processes involved in the synthesis, deposition, re-modelling and depolymerisation of cell wall polysaccharides of cereals and grasses. Plant cell walls represent the world's largest renewable carbon resource, but the regulatory mechanisms responsible for their synthesis and assembly are not understood. Key distinguishi ....ARC Centre of Excellence in Plant Cell Wall Biology. The ARC Centre for Plant Cell Wall Biology will define the regulatory mechanisms that control molecular, enzymic and cellular processes involved in the synthesis, deposition, re-modelling and depolymerisation of cell wall polysaccharides of cereals and grasses. Plant cell walls represent the world's largest renewable carbon resource, but the regulatory mechanisms responsible for their synthesis and assembly are not understood. Key distinguishing features of the Centre will be the international, integrative, and multidisciplinary approach towards addressing major questions in plant biology, its strategy to leverage ARC funding, and its linkages with potential national and international end-users of the fundamental scientific discoveries.Read moreRead less
Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This projec ....Diatom lipids to reveal sea-ice history in remote Antarctic regions. This project aims to understand seasonal Antarctic sea-ice extent using molecular, geochemical, elemental and genomic characteristics of specific marine phytoplankton (diatoms). Little is known of the seasonal sea-ice variation and the position of the summer sea-ice extent a million years before satellite records, but this information is critical to determining air-sea gas exchange and ecosystem food web regulation. This project will unite geochemical and biological approaches to provide the data to improve past Antarctic ecosystem and climate models where sea-ice data is missing. Studying diatom biomarkers in deep sea cores from Australia’s Southern Ocean will redefine knowledge of Antarctic climate and provide data necessary to improve global ecosystem and climate models.Read moreRead less
Identification of Biological pathways regulated by circular RNAs. Circular RNAs (circRNAs) are a, recently discovered molecule. circRNAs are highly abundant and expressed in a tissue and disease specific manner. Yet, currently the understanding of how circRNAs regulate biological processes is very poor. This project aims to use pooled shRNA libraries to screen a large panel of cell lines and systematically identify cellular activities that are regulated by circRNAs. The expected outcome of this ....Identification of Biological pathways regulated by circular RNAs. Circular RNAs (circRNAs) are a, recently discovered molecule. circRNAs are highly abundant and expressed in a tissue and disease specific manner. Yet, currently the understanding of how circRNAs regulate biological processes is very poor. This project aims to use pooled shRNA libraries to screen a large panel of cell lines and systematically identify cellular activities that are regulated by circRNAs. The expected outcome of this study will be a catalogue of functionally active circRNAs. Over the past decades, the wealth of knowledge on the function of linear mRNAs has had a significant impact on medicine and agriculture. Similarly understanding how circRNAs regulate cellular activities may have an analogous impact on humans.Read moreRead less
Defining pathways that establish and maintain reproductive cell identity in plant ovules and seeds. Unlike animals, individual somatic cells in plants have the remarkable ability to regenerate into new plants, depending on the signals they perceive. This developmental plasticity is particularly important during normal plant growth, when mature cells adopt new identities within multicellular environments. Tissue complexity is critical for the utilisation of plants in society as food, fuel and fib ....Defining pathways that establish and maintain reproductive cell identity in plant ovules and seeds. Unlike animals, individual somatic cells in plants have the remarkable ability to regenerate into new plants, depending on the signals they perceive. This developmental plasticity is particularly important during normal plant growth, when mature cells adopt new identities within multicellular environments. Tissue complexity is critical for the utilisation of plants in society as food, fuel and fibre, but how and why plant cells adopt or change identity has been difficult to determine. This project aims to employ next-generation molecular methods to identify pathways driving differentiation of specific ovule and seed cell-types, which directly impact crop quality, yield and end-use.Read moreRead less