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
Innovation in agricultural sector Green House Gas abatement in NSW. This project aims to develop a land sector greenhouse gas abatement, food production and environmental economics model for NSW. We expect to identify innovation in carbon payment policy and brokerage business models to achieve agricultural GHG abatement, while simultaneously improving sustainability. Expected outcomes include evaluation of the innovations of expert landholders, related businesses and governments to find ways to ....Innovation in agricultural sector Green House Gas abatement in NSW. This project aims to develop a land sector greenhouse gas abatement, food production and environmental economics model for NSW. We expect to identify innovation in carbon payment policy and brokerage business models to achieve agricultural GHG abatement, while simultaneously improving sustainability. Expected outcomes include evaluation of the innovations of expert landholders, related businesses and governments to find ways to influence land use decisions. This should provide significant benefits to landholders, governments involved in land management and the public through increased productivity, profitability, biodiversity and ecosystem health in the context of future climate, agricultural commodity and carbon market uncertainties.Read moreRead less
Moving beyond crisis management: Creating a future for people with disabilities living with ageing parents. The needs of thousands of people with disabilities being cared for by ageing parents are beyond the capacity of our existing formal mechanisms for providing care. In order to mitigate this national crisis in support, this research will establish effective, resource efficient support strategies where there are currently no plans in place for future care arrangements. By enhancing the capaci ....Moving beyond crisis management: Creating a future for people with disabilities living with ageing parents. The needs of thousands of people with disabilities being cared for by ageing parents are beyond the capacity of our existing formal mechanisms for providing care. In order to mitigate this national crisis in support, this research will establish effective, resource efficient support strategies where there are currently no plans in place for future care arrangements. By enhancing the capacity of the community to provide support the benefit of existing formal supports will be extended to address the needs of more families. This project will position Australian disability research and support at the forefront of international efforts to legitimize the claim of people with disabilities and their families on community resources.Read moreRead less
Support needs assessment: a developmental model for use in support, training and funding for individuals with single and multiple disabilities. This research project aims to construct and trial a new model for the assessment of the support needs of persons with disabilities. It addresses a number of critical deficiencies which recent research has shown to undermine the reliability, validity and usefulness of existing support needs instruments. Specifically, it is proposed to collect data that ....Support needs assessment: a developmental model for use in support, training and funding for individuals with single and multiple disabilities. This research project aims to construct and trial a new model for the assessment of the support needs of persons with disabilities. It addresses a number of critical deficiencies which recent research has shown to undermine the reliability, validity and usefulness of existing support needs instruments. Specifically, it is proposed to collect data that will inform the determination of the support needs of people with different kinds and combinations of disabilities. Variations in maintenance and intervention supports over time and context will be considered. The assessment system planned will have the flexibility to meet a number of potential user objectives.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE190100922
Funder
Australian Research Council
Funding Amount
$360,000.00
Summary
An international environmental history of the 'world ocean', 1950s-2000s. This project aims to investigate the ways in which states, international organisations, and international communities have engaged with the ‘world ocean’ as a natural environment from the 1950s to the 2000s. In the context of current environmental and geopolitical challenges for the ocean, this project will analyse how these actors built institutions, communities, and territories in and for the ocean environment as a found ....An international environmental history of the 'world ocean', 1950s-2000s. This project aims to investigate the ways in which states, international organisations, and international communities have engaged with the ‘world ocean’ as a natural environment from the 1950s to the 2000s. In the context of current environmental and geopolitical challenges for the ocean, this project will analyse how these actors built institutions, communities, and territories in and for the ocean environment as a foundation for generating knowledge and claiming power, rights, and resources. By understanding the structures and origins of contemporary ocean ideas, spaces, and institutions, this project aims to benefit current efforts to create resilient ocean environments and communities at the international scale.Read moreRead less
The importance of gender and socio-economic disadvantage for the mental health of people living with disabilities. The twenty per cent of Australians reporting a disability are more likely to live in disadvantaged circumstances such as inadequate housing, unemployment, and lower levels of education all of which may contribute to poor mental health. Yet there has not been research on the mental health of people with disabilities. This means that disability services and advocacy groups, which deal ....The importance of gender and socio-economic disadvantage for the mental health of people living with disabilities. The twenty per cent of Australians reporting a disability are more likely to live in disadvantaged circumstances such as inadequate housing, unemployment, and lower levels of education all of which may contribute to poor mental health. Yet there has not been research on the mental health of people with disabilities. This means that disability services and advocacy groups, which deal daily with the lived experiences of disadvantage and poor mental health in people with disabilities, do not have evidence to support policy and service sector reform. This project will provide this critical evidence as well as build research capacity in disability-related research and lead to better monitoring of disability-related health inequities.Read moreRead less
Redesigning Landcare policy to better coordinate across landholders. This project aims to study how landscape-sensitive economic incentives and social norms can be leveraged to enhance the short- and long-term effectiveness of conservation programs. It will yield new knowledge for innovative designs in conservation contracting that is urgently needed to address worsening environmental threats in Australia and worldwide. In collaboration with Nobel laureate Vernon Smith’s team, new methods and pr ....Redesigning Landcare policy to better coordinate across landholders. This project aims to study how landscape-sensitive economic incentives and social norms can be leveraged to enhance the short- and long-term effectiveness of conservation programs. It will yield new knowledge for innovative designs in conservation contracting that is urgently needed to address worsening environmental threats in Australia and worldwide. In collaboration with Nobel laureate Vernon Smith’s team, new methods and protocols will improve our ability to generate better data and better understand how social and incentive mechanisms can constructively interact to facilitate collaborative environmental action. Results will help make the achievement of environmental targets and the use of public funds more cost-effective. Read moreRead less
Keeping my place in the community: achieving successful ageing-in-place for people with intellectual and developmental disabilities. This project, in partnership with aged care and disability agencies across two states, aims to examine ways the aged care, social and health needs of people with intellectual and developmental disabilities may be met in rural and urban settings. It will explore mechanisms that will lead to a better integration of the aged care and disability sectors.