Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
Development of genetic technology for rodent population suppression. Vertebrate pests cost Australia over $1 billion each year in agricultural losses and environmental damage and novel strategies are urgently required to tackle this massive challenge. Newly proposed “gene drives”, which might rapidly spread through populations, have enormous potential for the sustained management and even eradication of pests. Through innovative application of cutting-edge genome editing approaches, this proposa ....Development of genetic technology for rodent population suppression. Vertebrate pests cost Australia over $1 billion each year in agricultural losses and environmental damage and novel strategies are urgently required to tackle this massive challenge. Newly proposed “gene drives”, which might rapidly spread through populations, have enormous potential for the sustained management and even eradication of pests. Through innovative application of cutting-edge genome editing approaches, this proposal aims to develop gene drive technology in mice as a prototypical vertebrate pest species. We will also develop cutting-edge mathematical models of rodent gene drives to identify crucial parameters for efficacious employment and investigate potential for impact on non-target populations.Read moreRead less
An integrated tool for informing pest management: modelling range shifts for an invasive vertebrate in response to climate change. Invasive species and climate contribute directly to loss of biodiversity and economic productivity. This research project focuses on providing user-orientated tools that enable a strategic approach to European rabbit management and vertebrate pest control in Australia in response to anticipated climate and land-use change.
Applying search theory for eradicating invasive species. Invasive species have major economic and environmental impacts in Australia and are a major cause of extinctions worldwide. Monitoring is crucial for the timely control of invasive species in sensitive environments. Early detection increases the probability of eradication and increased accuracy in detection reduces the impact of control programs on non-target species. Efficient monitoring also is crucial in determining whether eradication ....Applying search theory for eradicating invasive species. Invasive species have major economic and environmental impacts in Australia and are a major cause of extinctions worldwide. Monitoring is crucial for the timely control of invasive species in sensitive environments. Early detection increases the probability of eradication and increased accuracy in detection reduces the impact of control programs on non-target species. Efficient monitoring also is crucial in determining whether eradication has succeeded. Search Theory has been applied for over 60 years in a wide range of non-biological monitoring problems, resulting in large increases in target detection rates. Gains of a similar magnitude in invasive species detection would greatly enhance Australia's capacity to manage these threats.Read moreRead less
Improving the reintroduction success of mammals. Improving the reintroduction success of mammals. This project intends to improve the anti-predator traits of mammals and reduce the population density of introduced predators, using a novel two-pronged approach to combat predation by introduced predators. Predation by cats and foxes is the chief cause of reintroduction failure in Australian mammals. This project will look to improve the reintroduction success of burrowing bettongs outside predator ....Improving the reintroduction success of mammals. Improving the reintroduction success of mammals. This project intends to improve the anti-predator traits of mammals and reduce the population density of introduced predators, using a novel two-pronged approach to combat predation by introduced predators. Predation by cats and foxes is the chief cause of reintroduction failure in Australian mammals. This project will look to improve the reintroduction success of burrowing bettongs outside predator-free sanctuaries by exposing individuals to predators before release and by harnessing the suppressive effects of dingoes on introduced predators. Anticipated outcomes are improved re-introduction protocols for threatened mammals and re-established populations of endangered wildlife outside predator-free-sanctuaries.Read moreRead less
Motility as a means to understand prokaryotic function in the biosphere. Bacterial processes are crucial to the environment, industry and technology of Australia. This work will open a new area of research to expand our understanding of how bacteria behave and function. This will lay the foundation for improved environmental management and resource utilisation in the critical areas of groundwater purification, coral infections, fisheries yields, petroleum remediation and bioenergy generation. Th ....Motility as a means to understand prokaryotic function in the biosphere. Bacterial processes are crucial to the environment, industry and technology of Australia. This work will open a new area of research to expand our understanding of how bacteria behave and function. This will lay the foundation for improved environmental management and resource utilisation in the critical areas of groundwater purification, coral infections, fisheries yields, petroleum remediation and bioenergy generation. This proposal will train over a dozen new scientists in these crucial areas and bring leading international scientists to Australia in the areas of bioenergy production, microfluidics, advanced microscopy and bioengineering.Read moreRead less
Potential of gene drives to eliminate incursions of Drosophila suzukii. This project aims to test the efficacy and evolutionary stability of different types of gene drives, and model whether gene drives can be used to eliminate incursions of Drosophila suzukii into Australia. It is now possible to use genome editing technology to alter populations of organisms using ‘gene drives’. Multiple strategies have been conceived with a major distinction between those that aim to eliminate populations ver ....Potential of gene drives to eliminate incursions of Drosophila suzukii. This project aims to test the efficacy and evolutionary stability of different types of gene drives, and model whether gene drives can be used to eliminate incursions of Drosophila suzukii into Australia. It is now possible to use genome editing technology to alter populations of organisms using ‘gene drives’. Multiple strategies have been conceived with a major distinction between those that aim to eliminate populations versus those that aim to modify populations. This project will examine these strategies in two fly species, the model, Drosophila melanogaster and the devastating pest of horticulture, Drosophila suzukii. The project expects to assess a gene drive strategy to control the invasive pest that threatens the Australian soft-skinned fruit industries.Read moreRead less
Making Green Guard® greener: enhancing the efficacy of a biopesticide. The project aims to identify naturally occurring micro-organisms to increase the effectiveness of Green Guard ®, which is a biopesticide used against the Australian plague locust. The project will use next-generation sequencing and other molecular techniques to potentially identify candidate microbes or combinations of microbes that can be added to Green Guard to enhance locust susceptibility. The project also aims to quantif ....Making Green Guard® greener: enhancing the efficacy of a biopesticide. The project aims to identify naturally occurring micro-organisms to increase the effectiveness of Green Guard ®, which is a biopesticide used against the Australian plague locust. The project will use next-generation sequencing and other molecular techniques to potentially identify candidate microbes or combinations of microbes that can be added to Green Guard to enhance locust susceptibility. The project also aims to quantify the interactive impact of temperature and nutrition on immune function, disease resistance and host-plant quality of plague locusts; and to explore the combined effects of temperature, habitat and Green Guard, in combination with candidate microbes or pathogens, on the behaviour and collective movement of locusts. It is anticipated that this will have implications for management and control strategies.Read moreRead less