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.
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
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
Monotreme immune system provides insights into their evolutionary relationships. Genes of immunological importance will be cloned and characterised from the short-beaked echidna with the purpose of investigating the immune system in monotremes, gaining insights into the timing and order of evolutionary separation of the three extant mammalian groups:- the Prototherians (monotremes), the Metatherians (marsupials) and Eutherians (placentals), increasing understanding of the evolution of the verteb ....Monotreme immune system provides insights into their evolutionary relationships. Genes of immunological importance will be cloned and characterised from the short-beaked echidna with the purpose of investigating the immune system in monotremes, gaining insights into the timing and order of evolutionary separation of the three extant mammalian groups:- the Prototherians (monotremes), the Metatherians (marsupials) and Eutherians (placentals), increasing understanding of the evolution of the vertebrate immune system and providing the basis for making immunological reagents which are necessary for studying monotreme diseases (as a precautionary conservation strategy).Read moreRead less
Uncertain Information Processing for Situation Awareness and Dynamic Decision-Making in Emergency Management. The Australian national counter-terrorism committee indicates that Australia should have a strong intelligence-led prevention and preparedness to support Australia on risk management, emergency services and maintaining capabilities to manage various types of terrorist attacks. The proposed situation awareness support technique can be used to develop situation analysis software systems or ....Uncertain Information Processing for Situation Awareness and Dynamic Decision-Making in Emergency Management. The Australian national counter-terrorism committee indicates that Australia should have a strong intelligence-led prevention and preparedness to support Australia on risk management, emergency services and maintaining capabilities to manage various types of terrorist attacks. The proposed situation awareness support technique can be used to develop situation analysis software systems or directly support Australia government agencies and industries to correctly assess a situation, increase awareness for crisis problems, and therefore improve emergency management and decision-making effectiveness, in particular, for avoiding disaster problems in the first place and preparing plans for those that undoubtedly will occur. Read moreRead less
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.
Sudden Cardiac Arrest: Improving Detection Of Patients At Risk
Funder
National Health and Medical Research Council
Funding Amount
$838,845.00
Summary
Sudden cardiac death accounts for ~10% of deaths in our community. Many of these deaths occur in people who could otherwise have had many more years of productive life ahead of them. The aim of our research is to determine the underlying mechanisms so that we can develop better tools for detecting underlying problems before they become life threatening and potentially develop new treatments to modify the underlying causes.
Enhanced biocatalysis in organic solvents for pharmaceutical biotransformation. Enzymes such as hydrolases play an important role in biotechnology because of their extreme versatility with respect to substrate specificity and stereoselectivity. The use of lipases as catalysts for optical isomer-specific organic reactions is often limited by unacceptably low enantioselectivities. We will investigate recombinant enzymes cloned from thermophilic lipolytic bacteria for synthetic reactions in orga ....Enhanced biocatalysis in organic solvents for pharmaceutical biotransformation. Enzymes such as hydrolases play an important role in biotechnology because of their extreme versatility with respect to substrate specificity and stereoselectivity. The use of lipases as catalysts for optical isomer-specific organic reactions is often limited by unacceptably low enantioselectivities. We will investigate recombinant enzymes cloned from thermophilic lipolytic bacteria for synthetic reactions in organic solvents, especially chiral resolution of mixtures in the production of pharmaceutical intermediates. Genetic improvement of lipase enantiospecificity and regioselectivity will be achieved using in vitro evolution by recombination and screening. The outcome will be cost-effective production superior biocatalysts with specifically enhanced regiospecific, enantioselective and hydrolytic characteristics.
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Lungfish Paired Fins and the Origin of Limbs as an Evolutionary Novelty. This project will utilise a uniquely Australian animal, the lungfish, to address a hitherto unresolved problem of considerable scientific significance - how a fish fin evolved into a tetrapod (four-legged animal) limb. The Australian lungfish is the most primitive of the four surviving genera of lobe-finned fish and is recognised as the closest living ancestor to the tetrapods. It is listed as 'vulnerable' in its native ha ....Lungfish Paired Fins and the Origin of Limbs as an Evolutionary Novelty. This project will utilise a uniquely Australian animal, the lungfish, to address a hitherto unresolved problem of considerable scientific significance - how a fish fin evolved into a tetrapod (four-legged animal) limb. The Australian lungfish is the most primitive of the four surviving genera of lobe-finned fish and is recognised as the closest living ancestor to the tetrapods. It is listed as 'vulnerable' in its native habitat. Macquarie University, however, has the only captive breeding population of lungfish in the world. We are thus uniquely placed to address critically important questions concerning the evolution of fish into tetrapods. Read moreRead less