Production Of Humanised Mouse Models For Haemoglobin E And 0-thalassaemia
Funder
National Health and Medical Research Council
Funding Amount
$280,693.00
Summary
The proposed study aims to identify and characterise genes critical to male fertility using two mouse models of infertility: 1) Joey mouse line: an ENU induced model of sperm abnormalities. Following linkage analysis, candidate genes will be selected for sequencing to identify the causal mutation. 2) Ggn knockout mice. The role of the testis-specific gene, Ggn will be characterised through a phenotypic analysis of Ggn knockout mice and a series of expression and biochemical analyses. Both models ....The proposed study aims to identify and characterise genes critical to male fertility using two mouse models of infertility: 1) Joey mouse line: an ENU induced model of sperm abnormalities. Following linkage analysis, candidate genes will be selected for sequencing to identify the causal mutation. 2) Ggn knockout mice. The role of the testis-specific gene, Ggn will be characterised through a phenotypic analysis of Ggn knockout mice and a series of expression and biochemical analyses. Both models will be of direct value in the identification of commercially relevant contraceptive targets, as well as furthering our understanding of male reproductive function.Read moreRead less
Molecular dissection of the functional regions of genes that encode actinins (ACTN2 and ACTN3) and their contribution to normal variation in skeletal muscle function. The project has discovered a common genetic variant that affects skeletal muscle structure, function and metabolism and influences athletic ability, and response to diet and exercise. The project will study how this gene influences muscle bulk and strength, the metabolic efficiency of muscle and the risk of obesity in the general ....Molecular dissection of the functional regions of genes that encode actinins (ACTN2 and ACTN3) and their contribution to normal variation in skeletal muscle function. The project has discovered a common genetic variant that affects skeletal muscle structure, function and metabolism and influences athletic ability, and response to diet and exercise. The project will study how this gene influences muscle bulk and strength, the metabolic efficiency of muscle and the risk of obesity in the general population.Read moreRead less
A Phenomic And Genomic Approach To Identifying Pharmaceutical Targets For The Amelioration Of Hematopoietic Deficit
Funder
National Health and Medical Research Council
Funding Amount
$87,000.00
Summary
Mice and humans are genetically and physiologically similar, and are afflicted by many of the same diseases. By introducing random DNA mutations into the germline, mice with diseaseassociated characteristics can be generated, allowing the subsequent identification of genes involved in particular human disease processes. This project will utilise cutting-edge genetic technologies to discover genes that regulate production of the body�s principal blood clotting agents: platelets. This is of partic ....Mice and humans are genetically and physiologically similar, and are afflicted by many of the same diseases. By introducing random DNA mutations into the germline, mice with diseaseassociated characteristics can be generated, allowing the subsequent identification of genes involved in particular human disease processes. This project will utilise cutting-edge genetic technologies to discover genes that regulate production of the body�s principal blood clotting agents: platelets. This is of particular clinical and commercial importance since a reduction in platelet numbers is the life-threatening result of congenital and autoimmune diseases, viral infections (e.g. HIV) and cancer chemotherapy.Read moreRead less
Discovery Indigenous Researchers Development - Grant ID: DI0560757
Funder
Australian Research Council
Funding Amount
$160,896.00
Summary
Identification and Characterisation of Genes involved in the Copper Regulation of the Human Alzheimer's Disease Amyloid-Beta Precursor Protein (APP) Gene. Alzheimer's disease (AD) is the most common form of dementia in the ageing population. This research project aims to identify and characterise new genes involved in the copper regulation of the Alzheimer's disease gene. This may lead to the development of novel therapeutic targets and clinical intervention strategies as well as early diagnost ....Identification and Characterisation of Genes involved in the Copper Regulation of the Human Alzheimer's Disease Amyloid-Beta Precursor Protein (APP) Gene. Alzheimer's disease (AD) is the most common form of dementia in the ageing population. This research project aims to identify and characterise new genes involved in the copper regulation of the Alzheimer's disease gene. This may lead to the development of novel therapeutic targets and clinical intervention strategies as well as early diagnostic procedures in preventative healthcare for the treatment of AD. The benefits would affect the international community as a whole, potentially minimising the socio-economic costs arising from the predicted world-wide increase in AD in the ageing population.Read moreRead less
Mechanosensitive properties and modulation of N-methyl-D-aspartate (NMDA) receptors by lipid environment. This project will provide new information about the molecular determinants which influence NMDA receptor channel gating that will significantly advance our understanding of a link between NMDA receptor function and many neurodegenerative diseases as well as pain and learning and memory. The outcomes of this project may lead to the discovery of novel lipid-based biomaterials for application i ....Mechanosensitive properties and modulation of N-methyl-D-aspartate (NMDA) receptors by lipid environment. This project will provide new information about the molecular determinants which influence NMDA receptor channel gating that will significantly advance our understanding of a link between NMDA receptor function and many neurodegenerative diseases as well as pain and learning and memory. The outcomes of this project may lead to the discovery of novel lipid-based biomaterials for application in medicine and the drug industry. This research is highly significant in relation to human health. The biological and nutritional aspects of polyunsaturated lipids and dietary fish oils have long been recognized. Thus this project will provide further knowledge that could benefit the health of the nation with consequent reduced health care costs.Read moreRead less
Using mouse genetics to understand skin development and cell biology. During embryonic development the skin forms a protective barrier which permits life outside the womb and provides a window into the biology of cells. This project aims to use the skin to identify and characterise genes necessary for embryonic development and maintenance, the development of diseases and to explore their broader roles in other organs.
Discovering genes which modify human physical performance: a means of developing healthier life styles & novel athletic training programs. The aim of this multicentred study (University of Sydney, Australian National University, Australian Institute of Sport) is to find genes in the cardiac and musculoskeletal systems that are involved in modifying human physical performance. From this knowledge, it is proposed to develop novel physical training programs in our national sporting institutions ba ....Discovering genes which modify human physical performance: a means of developing healthier life styles & novel athletic training programs. The aim of this multicentred study (University of Sydney, Australian National University, Australian Institute of Sport) is to find genes in the cardiac and musculoskeletal systems that are involved in modifying human physical performance. From this knowledge, it is proposed to develop novel physical training programs in our national sporting institutions based on an individual's genetic information. In the broader community, knowledge of genes which contribute to the normal and healthy functioning of the cardiac and musculoskeletal systems will be invaluable in understanding and preventing breakdowns in these body systems.Read moreRead less
Genetics of Postmenopausal Bone Loss. The major consequence of bone loss in our ageing society is fracture. At 50 years for women, the lifetime risk of sustaining an osteoporotic fracture is 50%. The consequences of these fractures, which can include reduced life expectancy, prolonged medical care, and loss of independence, have a profound socioeconomic impact in an ageing population. The proposed study offers a unique opportunity to examine the contribution of genetic factors to postmenopausal ....Genetics of Postmenopausal Bone Loss. The major consequence of bone loss in our ageing society is fracture. At 50 years for women, the lifetime risk of sustaining an osteoporotic fracture is 50%. The consequences of these fractures, which can include reduced life expectancy, prolonged medical care, and loss of independence, have a profound socioeconomic impact in an ageing population. The proposed study offers a unique opportunity to examine the contribution of genetic factors to postmenopausal osteoporosis.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