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An International Whole Genome Study To Definitively Map Heritable Risk In Sarcomas
Funder
National Health and Medical Research Council
Funding Amount
$836,550.00
Summary
We want to understand why some people get sarcomas, and others do not. This is likely due to genetic causes, because these cancers affect the young. We now have the tools to address this question, and have created the largest and best characterised study of sarcoma families in the world upon which to apply these tools. This project will create an enduring foundation for research into the genetic basis of sarcomas for the next 20 years.
Non-Alzheimer’s Disease Degenerative Dementias: Identifying Prodromal Genetic/familial Phenotypes, Modifying Factors, And Protein Variations Involved In Progression
Funder
National Health and Medical Research Council
Funding Amount
$6,449,246.00
Summary
This proposal will generate new knowledge necessary for advancing the diagnosis of the non-Alzheimer’s disease dementias. We will identify the preclinical forms of frontotemporal dementia and Lewy body dementia using similar methods to those successfully employed to advance diagnosis of Alzheimer’s disease. Importantly, our team has the capacity to translate these protocols into clinical practice and into further advances in biological knowledge that is necessary for future therapeutic targeting
Evaluating The Genetic Contribution To Rheumatic Heart Disease Pathogenesis In Australian Aboriginal And Torres Strait Islander Communities
Funder
National Health and Medical Research Council
Funding Amount
$1,782,074.00
Summary
Rheumatic heart disease is highly prevalent in Aboriginal people in Australia and leads to early cardiac disease. Despite decades of research, the underlying genetic mechanisms for why it occurs are not well understood. We are conducting a genetic study to better understand why some people are susceptible to RHD and others are not. The study will involve substantial Aboriginal leadership and consultation and will be a model for the conduct of genetic studies in Aboriginal populations.
Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0989147
Funder
Australian Research Council
Funding Amount
$950,000.00
Summary
Advanced high throughput genomics facility for biological, medical, agricultural, environmental and evolutionary research. Infrastructure requested will expand the capacity of researchers in NSW/NT to undertake environmental, medical and evolutionary studies using state-of-the-art technologies based on the recent advances in DNA sequencing analyses. It will ensure the retention of leading researchers in the exciting areas of genomics and Systems Biology and make a significant contribution to bi ....Advanced high throughput genomics facility for biological, medical, agricultural, environmental and evolutionary research. Infrastructure requested will expand the capacity of researchers in NSW/NT to undertake environmental, medical and evolutionary studies using state-of-the-art technologies based on the recent advances in DNA sequencing analyses. It will ensure the retention of leading researchers in the exciting areas of genomics and Systems Biology and make a significant contribution to biomolecular research in medicine, agriculture and environmental biology, thereby providing major benefits to the wider community. The application will enhance existing genomic technologies by substantially increasing the scope of experiments that can be performed leading to important advances in gene discovery.Read moreRead less
CENTRE for INTEGRATIVE LEGUME RESEARCH. Legumes are essential for environmental sustainability and are important for maintaining human health. The Centre combines innovative genomic approaches to investigate the causal phenotypic links required for regulation of legume growth. The unique coexistence of multiple pluripotent meristems in shoots, roots, flowers and nodules permits the discovery of new paradigms governing legume architecture, reproductive differentiation and root-nodule developmen ....CENTRE for INTEGRATIVE LEGUME RESEARCH. Legumes are essential for environmental sustainability and are important for maintaining human health. The Centre combines innovative genomic approaches to investigate the causal phenotypic links required for regulation of legume growth. The unique coexistence of multiple pluripotent meristems in shoots, roots, flowers and nodules permits the discovery of new paradigms governing legume architecture, reproductive differentiation and root-nodule development. New knowledge of the plant growth processes through mechanistic analysis of organ induction provides the tools to optimise the legume's productivity, quality, and environment adaptation.Read moreRead less
Mouse models for the identification of factors involved in muscle adaptation. The ability of muscle to adapt to meet functional demands is essential for mobility in normal daily life, in ageing well, in individuals with muscle diseases and nerve damage and in athletes. The ability of muscle to change its cellular composition is desirable for the livestock industry. Knowledge of how genes in muscle cells are regulated to adapt to demands has significant implications for public health and economic ....Mouse models for the identification of factors involved in muscle adaptation. The ability of muscle to adapt to meet functional demands is essential for mobility in normal daily life, in ageing well, in individuals with muscle diseases and nerve damage and in athletes. The ability of muscle to change its cellular composition is desirable for the livestock industry. Knowledge of how genes in muscle cells are regulated to adapt to demands has significant implications for public health and economic benefits. We have devised model systems that will allow us to identify the regulators of these genes in order to develop therapies to combat these changes in ageing and damaged muscle, to improve the quality of meat and optimise sport performance.Read moreRead less
The Australian Parkinson's Project - Uncovering Genetic Risk Factors For Sporadic PD
Funder
National Health and Medical Research Council
Funding Amount
$768,546.00
Summary
Parkinson s disease (PD) is a progressively disabling movement disorder afflicting many elderly Australians. It is caused by the degeneration of specific nerve cells in the brain that produce certain chemicals and patients suffer from an inability to move fluently (or ultimately at all). At present we do not know what triggers this neurodegeneration, but it is believed that complex interactions between inherited (genetic) and environmental factors contribute significantly to the phenomenon. This ....Parkinson s disease (PD) is a progressively disabling movement disorder afflicting many elderly Australians. It is caused by the degeneration of specific nerve cells in the brain that produce certain chemicals and patients suffer from an inability to move fluently (or ultimately at all). At present we do not know what triggers this neurodegeneration, but it is believed that complex interactions between inherited (genetic) and environmental factors contribute significantly to the phenomenon. This project aims to learn more about these complex interactions and their association with PD. People with PD and unaffected individuals will be recruited from throughout Australia and we will look for specific combinations of genetic, environmental and lifestyle factors that either increase or decrease an individual's risk for PD. This research will identify the most common dominant genetic and environmental influences for PD in Australia, enabling scientists to focus on the most relevant biological pathways to target therapeutically.Read moreRead less
Does developmental noise have an epigenetic basis? One's ultimate phenotype is the result of a combination of genotype and environment, and includes a poorly understood component termed ?developmental noise?. The molecular basis of developmental noise remains unknown, but it appears to be established in early development and to be retained for the life of the organism. We propose that the molecular basis of developmental noise is the epigenetic state of the genome. The stochastic nature of th ....Does developmental noise have an epigenetic basis? One's ultimate phenotype is the result of a combination of genotype and environment, and includes a poorly understood component termed ?developmental noise?. The molecular basis of developmental noise remains unknown, but it appears to be established in early development and to be retained for the life of the organism. We propose that the molecular basis of developmental noise is the epigenetic state of the genome. The stochastic nature of the establishment of epigenetic state, combined with its heritability during mitosis, provides all the essential components for developmental noise. If our hypothesis proves correct, our work will have a major impact on the understanding of one of the most basic concepts in genetics.Read moreRead less
Psychosocial Aspects Of Genomic Testing For Breast Cancer Risk
Funder
National Health and Medical Research Council
Funding Amount
$108,902.00
Summary
Assessing a woman’s breast cancer risk by profiling polygenic risk represents a new approach in the familial cancer setting. My study is part of a program of research that aims to facilitate translation of polygenic risk information into clinical practice. For this, I will invite 400 women to receive their personal polygenic result and i) assess interest in receiving this result; ii) assess psychological and behavioural outcomes of receiving or not receiving their personal polygenic risk result