I am a scientist aiming to improve health outcomes by facilitating the collection and unification of data on human genetic variation together with its clinical impact on human health.
Senataxin, A Novel Protein Involved In The DNA Damage Response
Funder
National Health and Medical Research Council
Funding Amount
$500,460.00
Summary
The human genome is constantly exposed to agents-chemicals that cause DNA damage. Some of these are generated during normal metabolism and are referred to as reactive oxygen species while others comprise damaging sunlight, radiation and a variety of chemical agents. These agents can lead to cancer and a range of pathologies to different tissues including deterioration of brain function. This project is designed to investigate these processes using a specific genetic disorder as a model system. T ....The human genome is constantly exposed to agents-chemicals that cause DNA damage. Some of these are generated during normal metabolism and are referred to as reactive oxygen species while others comprise damaging sunlight, radiation and a variety of chemical agents. These agents can lead to cancer and a range of pathologies to different tissues including deterioration of brain function. This project is designed to investigate these processes using a specific genetic disorder as a model system. This disorder is called ataxia with oculomotor apraxia type 2 or AOA2. This condition develops in the teenage to early twenties and as the name suggests is characterised by loss of control of gait together with difficulties of eye movement. It is due to reduced function of a particular region of the brain called the cerebellum responsible for controlling movement. We have initial data suggesting that cells from these patients are very sensitive to environmental chemicals and their capacity to carry out repair of damage to DNA is compromised. We will investigate the nature of the defect at the molecular level and establish the function of the protein defective in this syndrome. This information will be important to determining specific therapies for AOA2 patients and may also have relevance to other neurodegenerative disorders.Read moreRead less
Identifying Target Genes For Novel Anti-epileptic Therapies In The Mouse
Funder
National Health and Medical Research Council
Funding Amount
$469,802.00
Summary
Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not respo ....Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not responding to current therapy. This project is designed to identify new biologic pathways which may be interrupted with drugs to prevent seizures in people with epilepsy. This project uses a procedure to induce mutations into genes in mice and then screens for mice which do not seize when challenged with a drug which generates seizures in mice. Genetic studies will identify the mutated genes and these will be used as potential targets for new therapies or will identify new biological pathway which should expand the use of future anti-epileptic drugs.Read moreRead less
Australian Laureate Fellowships - Grant ID: FL230100030
Funder
Australian Research Council
Funding Amount
$3,320,000.00
Summary
A walk on the wild side: understanding disease resistance across plants. Plants are in constant battle with pests and pathogens. Wild species host genetic diversity, providing sources of disease resistance, while the narrow genetic base of crop varieties leads to an increasing reliance on the unsustainable application of chemical fungicides. Here I will apply the latest genomics approaches to characterise disease resistance gene diversity across the plant kingdom. Comparison of gene diversity wi ....A walk on the wild side: understanding disease resistance across plants. Plants are in constant battle with pests and pathogens. Wild species host genetic diversity, providing sources of disease resistance, while the narrow genetic base of crop varieties leads to an increasing reliance on the unsustainable application of chemical fungicides. Here I will apply the latest genomics approaches to characterise disease resistance gene diversity across the plant kingdom. Comparison of gene diversity within and between plant families will improve our understanding of resistance gene evolution in wild species and the impact of domestication and breeding on resistance gene diversity. Translation of this knowledge will support breeding for crop resilience, leading to durable resistance and more sustainable crop productionRead moreRead less
Movement patterns and habitat utilisation of the endangered eastern freshwater cod, Maccullochella ikei Rowland. The project aims to quantify the movement patterns and habitat utilisation of the endangered eastern freshwater cod (Maccullochella ikei) at a larval, juvenile, adult and historical level. Most previous studies regarding the life-history of fish species have failed to adopt this holistic approach, with management often based on fragmented information. The project will also provide an ....Movement patterns and habitat utilisation of the endangered eastern freshwater cod, Maccullochella ikei Rowland. The project aims to quantify the movement patterns and habitat utilisation of the endangered eastern freshwater cod (Maccullochella ikei) at a larval, juvenile, adult and historical level. Most previous studies regarding the life-history of fish species have failed to adopt this holistic approach, with management often based on fragmented information. The project will also provide an insight into the biology of one of the most poorly understood coastal stream fishes of eastern-Australia and assist in ensuring the conservation of this endangered species, and offer a framework from which future studies into the life history of freshwater fish species worldwide can be based.Read moreRead less
Conservation genetics of the Endangered Oxleyan Pygmy Perch Nannoperca oxleyana. The aim of this study is to determine how isolation of populations of the endangered Oxleyan Pygmy Perch Nannoperca Oxleyana affects their genetic composition. The significance of the study is that it will enhance our ability to conserve the species, and enhance our understanding of the genetics of isolated populations of freshwater fish generally.
The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are ....The Origin and Evolution of the Animal Phyla inferred from Analysis of Multiple-Gene Data. Australia has recently begun an extensive research programme in the genomics of our flora and fauna. The enormous amounts of data that emerge from such research are highly complex, but they hold the key to understanding how biological organisms change over time. Our research will untangle that data to answer fundamental, unanswered questions in modern science: How did the animal groups originate? How are they related to each other? How is biodiversity changing? The answers to these questions and the new analytical tools we will develop will put Australia firmly on the international "map" of Bioinformatics.Read moreRead less
Humane Chemical Methods for Population Management of Highly Valued Large Mammals. In many countries valued wild and feral animals are nonetheless too numerous. Their population numbers must be controlled through fertility. Examples are koalas in Australia, deer and seals in North America, cattle in India and dogs in Thailand. We aim to develop benign implants for castration based upon the gonadotrophin releasing hormone (GnRH). These implants are easily administered. The outcomes will be to ....Humane Chemical Methods for Population Management of Highly Valued Large Mammals. In many countries valued wild and feral animals are nonetheless too numerous. Their population numbers must be controlled through fertility. Examples are koalas in Australia, deer and seals in North America, cattle in India and dogs in Thailand. We aim to develop benign implants for castration based upon the gonadotrophin releasing hormone (GnRH). These implants are easily administered. The outcomes will be to protect Australia's ?green? image , worldwide market opportunities for the Australian companies involved in this application and valuable intellectual property for Macquarie. The methodology will in time allow us to apply it to the treatment of cancer.Read moreRead less