Improved biomonitoring of urban freshwater ecosystems using DNA barcodes. This project aims to provide rapid diagnostic detection of environmental change in aquatic ecosystems at reduced cost. Next-generation sequencing (NGS) can transform monitoring of aquatic ecosystems by identifying many species in multiple biological samples. This project aims to use NGS technology to identify macroinvertebrate species as biological indicators in urban freshwater ecosystems to provide more rapid, sensitive ....Improved biomonitoring of urban freshwater ecosystems using DNA barcodes. This project aims to provide rapid diagnostic detection of environmental change in aquatic ecosystems at reduced cost. Next-generation sequencing (NGS) can transform monitoring of aquatic ecosystems by identifying many species in multiple biological samples. This project aims to use NGS technology to identify macroinvertebrate species as biological indicators in urban freshwater ecosystems to provide more rapid, sensitive and cost-effective monitoring compared to traditional methods. The project uses DNA barcodes that identify species to detect species in samples processed with NGS. The project also plans to use previously collected samples to explore species diversity and detect indicator species.Read moreRead less
Subterranean invertebrate communities of arid zone Western Australia: diversity, assessment and food-web structure. The diverse and unique subterranean fauna associated with aquifers of the Western Australia arid zone is potentially threatened by water extraction, mining and other human impacts. This project aims to apply a powerful combination of molecular genetic analyses and compound specific isotope analyses to study, for the first time, the food web structure and source of energy of these g ....Subterranean invertebrate communities of arid zone Western Australia: diversity, assessment and food-web structure. The diverse and unique subterranean fauna associated with aquifers of the Western Australia arid zone is potentially threatened by water extraction, mining and other human impacts. This project aims to apply a powerful combination of molecular genetic analyses and compound specific isotope analyses to study, for the first time, the food web structure and source of energy of these groundwater ecosystems. The project aims to also develop novel procedures for monitoring their biodiversity using environmental DNA within the groundwater. The results will provide crucial information for the management of groundwater, and conservation of their associated ecosystems, and significantly improve the rigour of long-term environmental monitoring.Read moreRead less
Evolution of sensory systems in the dark biosphere. This project utilises a unique Australian model system based on multiple, independently-evolved subterranean water beetles to explore the adaptive and regressive changes in the genome that occur when surface species colonise subterranean habitats. We aim to characterise and investigate the evolution of chemosensory and circadian rhythm genes, which play critical roles in the fitness of animals, including the ability to find food and mates in a ....Evolution of sensory systems in the dark biosphere. This project utilises a unique Australian model system based on multiple, independently-evolved subterranean water beetles to explore the adaptive and regressive changes in the genome that occur when surface species colonise subterranean habitats. We aim to characterise and investigate the evolution of chemosensory and circadian rhythm genes, which play critical roles in the fitness of animals, including the ability to find food and mates in a dark, thermally stable environment. Knowledge of chemosensory and circadian genetic systems and how they dynamically evolve is fundamental to a variety of fields, including the process of speciation and biological adaptation (for example, to permanent darkness, pollutants and insecticides).Read moreRead less
Genomics for persistence of Australian freshwater fish. Biodiversity faces an unpredictable cocktail of impacts and global environmental change, against which the best insurance is genetic diversity. We will develop genomic measures of ecological-genetic functions and evolutionary potential for managing Australian freshwater fish.
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
Restoration genetics of five endangered fish species from the Murray-Darling Basin. Extended drought and environmental degradation have caused unprecedented loss of aquatic biodiversity in the Murray-Darling Basin (MDB), Australia's most important agricultural region. This project will reduce the risk of extinction of two endangered and three critically endangered freshwater fish species from the lower MDB. It will provide major benefits to the broader Australian community by addressing governme ....Restoration genetics of five endangered fish species from the Murray-Darling Basin. Extended drought and environmental degradation have caused unprecedented loss of aquatic biodiversity in the Murray-Darling Basin (MDB), Australia's most important agricultural region. This project will reduce the risk of extinction of two endangered and three critically endangered freshwater fish species from the lower MDB. It will provide major benefits to the broader Australian community by addressing government policies regarding sustainable water management in rural areas, biodiversity protection and recovery of threatened species. The study will also increase the research profile of Australia in the international scientific community by improving our understanding about genetic diversity in captive breeding and restoration programs.Read 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
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
The evolutionary potential of fragmented and declining populations. This project aims to integrate adaptive genomic and epigenomic information from wild, captive and reintroduced populations to identify evolutionary potential across different life-histories and levels of habitat fragmentation. The project will capitalise on knowledge and genomic resources for Australian freshwater fishes, including a natural experiment of evolution. It is expected that the project will address fundamental and ap ....The evolutionary potential of fragmented and declining populations. This project aims to integrate adaptive genomic and epigenomic information from wild, captive and reintroduced populations to identify evolutionary potential across different life-histories and levels of habitat fragmentation. The project will capitalise on knowledge and genomic resources for Australian freshwater fishes, including a natural experiment of evolution. It is expected that the project will address fundamental and applied questions about the adaptive capacity of populations in their natural environment. The outcomes of the project will help evaluate and improve local and ecosystem-level initiatives towards the sustainable management of aquatic biodiversity impacted by human activities. The project will also inform on management of water resources in the Murray-Darling Basin.Read moreRead less