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.
Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding o ....Australian Heritage: constructing the first Aboriginal reference genome. This project aims to use DNA sequencing technologies to generate the first complete and accurate Aboriginal genomes, along with maps of genomic variation around Australia. It will combine a range of advanced analytical methods to integrate past and present indigenous genetic diversity from human populations around the world into a new pan-human reference genome. This project will lead to a step change in our understanding of global human genomic variants and provide a range of new targets relevant to medical biology, while significantly improving our knowledge of human genetic history and its consequences in the modern day.Read moreRead less
The genomic landscape of speciation in hominins and other taxa. This project will develop a new analytical framework to build detailed genomic maps of speciation genes across different taxa, to determine whether observed speciation is the result of background selection and demography alone, or whether there are actual barriers to gene flow and introgressed DNA. The model will provide novel insights into the mechanistic basis of speciation, specifically whether a common set of genes or pathways a ....The genomic landscape of speciation in hominins and other taxa. This project will develop a new analytical framework to build detailed genomic maps of speciation genes across different taxa, to determine whether observed speciation is the result of background selection and demography alone, or whether there are actual barriers to gene flow and introgressed DNA. The model will provide novel insights into the mechanistic basis of speciation, specifically whether a common set of genes or pathways are central to the speciation process. The framework will be developed using the large genomic datasets available across a range of plant and animal species. Applying the model to a modern human population dataset will elucidate the role introgressed DNA from Denisovan and Neanderthals has played in shaping human evolutionary history and may provide novel insights into the genetic basis of disease.Read moreRead less
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
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
Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health ser ....Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health service delivered to the Australian public. This project aims to develop better tests for application in prenatal diagnostics including non-invasive testing of fetal cells from maternal circulation or cervical samples at 6-13 weeks gestation, IVF and cancer diagnostics.Read moreRead less
Transformational diagnostics. Australia has established world-leading capabilities in optical fibres and surface science that, when brought together, have the potential to transform applications that require non-invasive, real-time and/or portable biological detection tools. We propose a novel and ambitious suite of projects that bring together these capabilities with experts in reproductive health, forensics and explosives to solve pressing problems in each of these areas that have the promise ....Transformational diagnostics. Australia has established world-leading capabilities in optical fibres and surface science that, when brought together, have the potential to transform applications that require non-invasive, real-time and/or portable biological detection tools. We propose a novel and ambitious suite of projects that bring together these capabilities with experts in reproductive health, forensics and explosives to solve pressing problems in each of these areas that have the promise to develop into new industries for Australia as well as to explore rich science opportunities at the boundaries of these disciplines.Read moreRead less
Evolution and function of mammalian sex chromosomes. Research on iconic Australian mammals has profoundly reshaped our understanding of reproductive biology and sex chromosome evolution. In this project we combine unique expertise, international collaboration and novel genetic information about Australia's unique egg-laying mammals (echidna and platypus) to investigate major aspects of reproduction. This work will address fundamental aspects of sex chromosome biology and advance our understandin ....Evolution and function of mammalian sex chromosomes. Research on iconic Australian mammals has profoundly reshaped our understanding of reproductive biology and sex chromosome evolution. In this project we combine unique expertise, international collaboration and novel genetic information about Australia's unique egg-laying mammals (echidna and platypus) to investigate major aspects of reproduction. This work will address fundamental aspects of sex chromosome biology and advance our understanding of mammalian reproduction. The knowledge gained will have application in captive breeding and conservation of these extraordinary Australian mammals. The project also provides opportunity to train research students in cutting edge molecular biology and informatics.Read moreRead less