I am an epidemiologist using high quality data collections and novel methods to generate new knowledge that will help reduce the impact or prevalence of birth defects and related disability.
Single minded 1 in neuron development and satiety signalling. An understanding of how Single minded 1 (SIM1) regulates target genes may allow new pharmaceutical approaches to be designed to combat obesity. As Sim1 belongs to a family of closely related gene regulatory proteins which function in early development and homeostasis, deciphering the molecular control mechanisms of Sim1 may help understand how the related factors function in processes such as angiogenesis, response to low oxygen stres ....Single minded 1 in neuron development and satiety signalling. An understanding of how Single minded 1 (SIM1) regulates target genes may allow new pharmaceutical approaches to be designed to combat obesity. As Sim1 belongs to a family of closely related gene regulatory proteins which function in early development and homeostasis, deciphering the molecular control mechanisms of Sim1 may help understand how the related factors function in processes such as angiogenesis, response to low oxygen stress, invasion of environmental pollutants and autism spectrum diseases. The ability to manipulate these factors would be of great benefit in treating a range of disorders, but a thorough molecular understanding of these factors needs be obtained prior to attempting design of pharmaceuticals.Read moreRead less
Identification of the targets of a novel metalloproteinase inhibitor used for the treatment of human head lice. Human head lice are difficult to control. This project examines a new type of ovicidal treatment that prevents louse eggs from hatching. The goal is to understand precisely how this treatment is ovicidal, so that even more effective products might be designed. Beyond the benefits of providing a safe and reliable treatment option for a troublesome pest, the development of this product ....Identification of the targets of a novel metalloproteinase inhibitor used for the treatment of human head lice. Human head lice are difficult to control. This project examines a new type of ovicidal treatment that prevents louse eggs from hatching. The goal is to understand precisely how this treatment is ovicidal, so that even more effective products might be designed. Beyond the benefits of providing a safe and reliable treatment option for a troublesome pest, the development of this product will be a significant step forward for the Australian pharmaceutical industry.Read moreRead less
Identifying Novel Genes Causing Cytochrome C Oxidase (COX) Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$426,917.00
Summary
Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the uniqu ....Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the unique mitochondrial DNA we inherit only from our mothers. Many more genes await discovery. This study focuses on the mitochondrial disorder cytochrome c oxidase (COX) deficiency, for which we have diagnosed 80 Australian patients. COX requires 13 separate components to be assembled together in order to work properly, but mutations in the genes encoding these components are not present in most patients. We believe that the most common problems will be in genes involved in assembling the components rather than in the components themselves. We will use a number of methods to pinpoint where in the genome the disease genes are located. A key to our strategy is identifying patients likely to have mutations in the same gene. We have identified two such groups, and will do studies that involving fusing two cell lines together to confirm they have the same disorder. We will then perform genetic mapping to look for regions of similarity in the genome using DNA (SNP) chips. We will test how well the genes in such regions are expressed, whether we can correct the problem in cultured skin cells by introducing a healthy copy of that chromosome, and look for gene mutations. Identifying these genes will allow us to improve future diagnosis and prevention and may allow us to develop new methods of treatment. Milder mitochondrial problems also contribute to a range of more common diseases such as diabetes and Alzheimer disease, so any new treatments could potentially have wide applicationRead moreRead less
Genetic Variation Of Mitochondrial Complex I: Its Role In Rare And Common Diseases
Funder
National Health and Medical Research Council
Funding Amount
$628,415.00
Summary
Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the uniqu ....Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the unique mitochondrial DNA we inherit only from our mothers. Many more genes await discovery. This grant focuses on the most common energy generation disorder, known as Complex I deficiency. Complex I requires 46 separate components to be assembled together in order to work properly, but mutations in the 46 genes encoding these components only seem to explain disease in about half of all patients. Our aim is to identify new disease genes and to determine whether some patients have mutations in two different genes that interact to cause disease, rather than in a single gene. We will use a number of methods to pinpoint where in the genome the causative genes are located and then home in on the exact changes in the genes that cause disease. Identifying these genes will allow us to improve future diagnosis and prevention of mitochondrial disease. We will also generate mice in which one of the Complex I genes has been knocked out. These mice will allow us to better understand the basic disease mechanisms that link gene changes to disease. Understanding the basic biology may allow us to develop new methods of treatment. The mouse models will also be useful for trialling new treatments and for investigating the role of milder mitochondrial problems in common diseases such as diabetes and Parkinson disease. Any new treatments could potentially have wide application.Read moreRead less
Developing DNA tracking methods to identify illegally logged timber products from Africa. Illegal logging causes societal and environmental forest degradation, and is a high priority for international control. This project will produce a range of DNA methods that allow the tracing of the geographic source of origin for timber products from African tropical forests that will allow producers and consumers to better market and choose their products.
Evolution, disease and extinction - using ancient and modern Deoxyribonucleic acid (DNA) to investigate molecular evolution in the Tasmanian devil. The Tasmanian devil is Australia's largest living marsupial carnivore and one of Tasmania's key tourism icons. Extinction in the wild will have long-term impacts on Tasmanian native ecosystems and economy. This study will provide critical genetic data and tools to monitor and prioritise conservation strategies, including insurance populations and dis ....Evolution, disease and extinction - using ancient and modern Deoxyribonucleic acid (DNA) to investigate molecular evolution in the Tasmanian devil. The Tasmanian devil is Australia's largest living marsupial carnivore and one of Tasmania's key tourism icons. Extinction in the wild will have long-term impacts on Tasmanian native ecosystems and economy. This study will provide critical genetic data and tools to monitor and prioritise conservation strategies, including insurance populations and disease suppression, aimed at preventing extinction. It will strengthen ongoing conservation programs carried out by the Save the Tasmanian Devil Program and will help publicise the plight of the devil both nationally and internationally.Read moreRead less
The roles of relatedness and reproductive success in complex social systems of dolphins. Theories of the role of genetic relatedness and reproductive success in mammalian social behaviour have mostly been restricted to primates and carnivores. Coexisting alternative strategies within one population of bottlenose dolphins (Shark Bay WA) offer unprecedented opportunities for such investigations. The male alliances? complexity is unparalleled outside humans, and may require new theory. Some femal ....The roles of relatedness and reproductive success in complex social systems of dolphins. Theories of the role of genetic relatedness and reproductive success in mammalian social behaviour have mostly been restricted to primates and carnivores. Coexisting alternative strategies within one population of bottlenose dolphins (Shark Bay WA) offer unprecedented opportunities for such investigations. The male alliances? complexity is unparalleled outside humans, and may require new theory. Some female lineages show tool-use - rare outside humans, and virtually unknown in marine species. Our behavioural and genetic database has exceptional size, detail and duration for marine mammals, and is most valuable if continued while known individuals' offspring reach a stage where they can be sampled.Read moreRead less
Understanding how cells compact and segregate DNA in vertebrates. How a cell compacts and divides its DNA is still a major unanswered question in biology. This project will determine the way in which a cell compacts its DNA nearly ten thousand fold to allow the faithful and accurate segregation to daughter nuclei.
Discovery Early Career Researcher Award - Grant ID: DE170100443
Funder
Australian Research Council
Funding Amount
$372,000.00
Summary
Landscape genomics to make an endangered community resilient. This project aims to use landscape genomic techniques to assess how key species of the critically endangered Box-Gum Grassy Woodland community migrate and adapt under changing environmental conditions. Changing climate and land use threaten ecological communities, and alter environments at alarming rates. When species are pushed beyond their environmental tolerances, they will migrate, adapt or face local extinction. This alteration o ....Landscape genomics to make an endangered community resilient. This project aims to use landscape genomic techniques to assess how key species of the critically endangered Box-Gum Grassy Woodland community migrate and adapt under changing environmental conditions. Changing climate and land use threaten ecological communities, and alter environments at alarming rates. When species are pushed beyond their environmental tolerances, they will migrate, adapt or face local extinction. This alteration of the community structure affects the stability and function of the ecosystem. Expected outcomes include efficient use of limited conservation resources, ensuring the long term persistence of the endangered community.Read moreRead less