Elucidating the neural pathways and genetic basis of speech. The project will elucidate the biological basis of speech, a unique feature of the human condition. The project will do this by i) discovering genes associated with speech disorder and ii) defining the neural pathways associated with speech production. This study will address critical questions regarding gene, brain and behaviour relationships in speech.
Brain sodium channel: functional role of developmentally regulated alternative splicing. This project will identify the roles of neonatal and adult forms of a sodium channel in the function of neurons in the developing brain. Sodium channels are vital for brain function and this study will improve our understanding of the function of healthy brain as well as of underlying mechanisms of some neurological disorders.
Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and ....Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and highly competitive area of research. It will underpin the national research priority of Promoting and Maintaining Good Health and help Australia capitalise on a plethora of opportunities for future economic and health benefits.Read moreRead less
Molecular Investigations into Polyglutamine Repeat Proteins. The proposed research program, will provide significant fundamental insight into the processes that control protein aggregation and disease. Investigating processes central to protein aggregation is important, as it will further our understanding of these critically-important events and our understanding of disease processes. Such knowledge will increase Australia's international research standing, as well as having the potential to ....Molecular Investigations into Polyglutamine Repeat Proteins. The proposed research program, will provide significant fundamental insight into the processes that control protein aggregation and disease. Investigating processes central to protein aggregation is important, as it will further our understanding of these critically-important events and our understanding of disease processes. Such knowledge will increase Australia's international research standing, as well as having the potential to generate novel therapies, that prevent neurodegeneration.Read moreRead less
Analysing the detrimental effects of polyglutamine expansion. The proposed research program, will provide significant fundamental insight into the processes that control protein aggregation and its link with disease. Investigating processes central to protein aggregation is important as it will deepen our understanding of how proteins inappropriately change shape and our understanding of disease processes. Such knowledge will increase Australia's international research standing, as well as ha ....Analysing the detrimental effects of polyglutamine expansion. The proposed research program, will provide significant fundamental insight into the processes that control protein aggregation and its link with disease. Investigating processes central to protein aggregation is important as it will deepen our understanding of how proteins inappropriately change shape and our understanding of disease processes. Such knowledge will increase Australia's international research standing, as well as having the potential to generate novel therapies, that prevent neurodegeneration.Read moreRead less
Cytopathological roles of AMPK in mitochondrial dysfunction. This research project will benefit the Australian community by deepening our understanding of mitochondrial and neurodegenerative diseases. These diseases are incurable and treatment options are limited. The knowledge gained in this project should assist in the development of new or improved treatments. The project will also contribute to the training of young scientists in biomedical research and will enhance Australia's international ....Cytopathological roles of AMPK in mitochondrial dysfunction. This research project will benefit the Australian community by deepening our understanding of mitochondrial and neurodegenerative diseases. These diseases are incurable and treatment options are limited. The knowledge gained in this project should assist in the development of new or improved treatments. The project will also contribute to the training of young scientists in biomedical research and will enhance Australia's international scientific reputation because it involves a significant and novel biomedical discovery.
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Role of the GxxxG domain in the function of mammalian prion proteins. Prion proteins have been associated with a number of diseases of humans and animals (such as Creutzfeldt-Jakob Disease in humans and BSE, or 'mad-cow' disease in cattle) which have had major public health, social and economic consequences in countries where they have been detected. This project will identify mechanisms by which a highly conserved region of the prion protein plays a role in the conversion to the disease associa ....Role of the GxxxG domain in the function of mammalian prion proteins. Prion proteins have been associated with a number of diseases of humans and animals (such as Creutzfeldt-Jakob Disease in humans and BSE, or 'mad-cow' disease in cattle) which have had major public health, social and economic consequences in countries where they have been detected. This project will identify mechanisms by which a highly conserved region of the prion protein plays a role in the conversion to the disease associated form. This will provide avenues for identifying the normal function of the prion protein, and increase our knowledge of prion biology. This will benefit both in terms of healthy ageing and in protecting the agriculture sector from prion diseases in farmed animals.Read moreRead less
Gene Discovery and Functional Analysis of Copper Homeostasis Genes in Drosophila. Copper is a vital nutrient required for the formation and maintenance of bones, blood vessels and the central nervous system, but copper is also potentially toxic when in excess. Homeostatic mechanisms are needed to maintain safe levels of copper in the body and disruptions to these mechanisms are associated with disorders such as Alzheimer's disease, heart disease and osteoporosis. We are investigating the regulat ....Gene Discovery and Functional Analysis of Copper Homeostasis Genes in Drosophila. Copper is a vital nutrient required for the formation and maintenance of bones, blood vessels and the central nervous system, but copper is also potentially toxic when in excess. Homeostatic mechanisms are needed to maintain safe levels of copper in the body and disruptions to these mechanisms are associated with disorders such as Alzheimer's disease, heart disease and osteoporosis. We are investigating the regulation of a key copper pump, the Menkes protein, which helps control copper levels in the body and we are using the genetic advantages of the fruit fly Drosophila to discover new genes that regulate Menkes activity and therefore copper levels. These studies could lead to novel therapies for a range of copper-related disorders.Read moreRead less
Rapid functional analysis of genes involved in skeletal development. Abnormalities of the skeleton are of enormous clinical significance in terms of both number of individuals affected and the cost of treatment. Data derived from this project will underpin targeted research on the mechanisms of inherited and common diseases of cartilage and bone, yielding novel diagnostic and therapeutic targets. In addition, the improved knowledge of cartilage and bone cell development will inform new approache ....Rapid functional analysis of genes involved in skeletal development. Abnormalities of the skeleton are of enormous clinical significance in terms of both number of individuals affected and the cost of treatment. Data derived from this project will underpin targeted research on the mechanisms of inherited and common diseases of cartilage and bone, yielding novel diagnostic and therapeutic targets. In addition, the improved knowledge of cartilage and bone cell development will inform new approaches for developing stem cell therapies and the production of novel biomaterials for the repair of bones and joints. The outcomes of this study will therefore benefit the full spectrum of society from infants to the aged.Read moreRead less
Discovering mechanisms of primary embryonic tissue migration through live cell imaging and novel genetic approaches. The studies proposed here will provide concepts and knowledge about the molecular basis of cell migration that will impact on diverse aspects of human health, such as the causes and nature of tumour metastasis and our understanding of the developmental basis of birth defects. In addition, understanding cell migration mechanisms will allow us to better predict or control the behav ....Discovering mechanisms of primary embryonic tissue migration through live cell imaging and novel genetic approaches. The studies proposed here will provide concepts and knowledge about the molecular basis of cell migration that will impact on diverse aspects of human health, such as the causes and nature of tumour metastasis and our understanding of the developmental basis of birth defects. In addition, understanding cell migration mechanisms will allow us to better predict or control the behaviour of therapeutic stem cells introduced into the body.Read moreRead less