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
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.
Understanding the evolution of the alternation of generations in the land plant life cycle. This project will investigate the genetic basis and evolution of the land plant life cycle, in which both haploid and diploid phases consist of complex multicellular bodies. The project's findings, which will be made using two model laboratory plants, will be applicable to all plants and will help understand important processes such as pollen and seed production.
Pushing AR Toward Better Outcomes In Breast And Prostate Cancers
Funder
National Health and Medical Research Council
Funding Amount
$998,754.00
Summary
Breast and prostate cancers kill >6000 Australians each year. These cancers are strikingly similar, both driven by hormone receptors that have ‘gone bad’. Current therapies aim to eradicate the receptors. While often effective, therapeutic resistance is common and results in fatal disease. We aim to develop new, less toxic treatments that switch receptor behaviour from good to bad, without destroying them. This should improve quality of life, while preventing drug resistance and loss of lives ....Breast and prostate cancers kill >6000 Australians each year. These cancers are strikingly similar, both driven by hormone receptors that have ‘gone bad’. Current therapies aim to eradicate the receptors. While often effective, therapeutic resistance is common and results in fatal disease. We aim to develop new, less toxic treatments that switch receptor behaviour from good to bad, without destroying them. This should improve quality of life, while preventing drug resistance and loss of lives.Read moreRead less
Understanding Ageism in Australia. Ageism refers to stereotypes, prejudice and discrimination towards people based on their age. This project aims to generate new knowledge in relation to older Australians’ experiences of ageism by conducting a population-based survey of ageism and examining its links with mental health and wellbeing. The project will also use intensive longitudinal methods to study everyday ageism. Expected outcomes include identification of at-risk groups that can be used to i ....Understanding Ageism in Australia. Ageism refers to stereotypes, prejudice and discrimination towards people based on their age. This project aims to generate new knowledge in relation to older Australians’ experiences of ageism by conducting a population-based survey of ageism and examining its links with mental health and wellbeing. The project will also use intensive longitudinal methods to study everyday ageism. Expected outcomes include identification of at-risk groups that can be used to inform government policy responses to tackling ageism and will inform the development of interventions and education programs to reduce ageism in the community. This should provide significant benefits for social inclusion, intergenerational solidarity and economic participation Read moreRead less
Tree-mediated methane fluxes: A new frontier in the global carbon cycle. Methane is an extremely potent greenhouse gas. Recent evidence suggests that tree-mediated fluxes may be a significant, but overlooked source of methane to the atmosphere. This project aims to quantify the magnitude and drivers of tree-mediated methane fluxes from Australia’s dominant forest types. Innovatively, we will be using a novel combination of empirical field based measurements, gas tracer experiments, microbial ana ....Tree-mediated methane fluxes: A new frontier in the global carbon cycle. Methane is an extremely potent greenhouse gas. Recent evidence suggests that tree-mediated fluxes may be a significant, but overlooked source of methane to the atmosphere. This project aims to quantify the magnitude and drivers of tree-mediated methane fluxes from Australia’s dominant forest types. Innovatively, we will be using a novel combination of empirical field based measurements, gas tracer experiments, microbial analysis and modelling methods. Expected outcomes are a mechanistic understanding of tree-mediated methane fluxes, helping to constrain regional, national and global methane budgets. The results of this study will help inform publicly funded greenhouse gas abatement strategies, ensuring a maximal return on investment.Read moreRead less
Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
How Individual and Societal Resources Contribute to Ageing Well through the Fourth Age: The Australian Longitudinal Study of Ageing. People aged 85 and over represent the fastest growing sector of the Australian population. It is estimated that by 2051 Australia will be home to between 1.6 million and 2.7 million 85+ year olds. This project fills a pressing need for knowledge about determinants of quality of life, resilience and successful ageing in this rarely studied age group. Detailed inform ....How Individual and Societal Resources Contribute to Ageing Well through the Fourth Age: The Australian Longitudinal Study of Ageing. People aged 85 and over represent the fastest growing sector of the Australian population. It is estimated that by 2051 Australia will be home to between 1.6 million and 2.7 million 85+ year olds. This project fills a pressing need for knowledge about determinants of quality of life, resilience and successful ageing in this rarely studied age group. Detailed information drawn from over 300 participants, all aged 85 and over, will lead the way to providing Australian communities and policy-makers with the understanding needed to plan for and manage this important demographic transition, and develop services directed at optimising health, functioning and meaningful engagement.Read moreRead less
Promoting engagement with life in older adulthood. This project aims to examine engagement in meaningful activities among older adults. Increasing older adults' engagement could promote direct benefits for social integration, well-being and better quality of life. The project is expected to generate new knowledge on programs that effectively promote engagement, as well as evaluating a new tailored approach to promoting engagement that aligns with individuals' unique strengths, capabilities and ....Promoting engagement with life in older adulthood. This project aims to examine engagement in meaningful activities among older adults. Increasing older adults' engagement could promote direct benefits for social integration, well-being and better quality of life. The project is expected to generate new knowledge on programs that effectively promote engagement, as well as evaluating a new tailored approach to promoting engagement that aligns with individuals' unique strengths, capabilities and values. The findings aim to provide benefits for community organisations and aged care service providers adopting innovative approaches to promoting ageing well.
Read moreRead less