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
About one in eight known genetic disorders involve DNA alteration that activates a cellular quality control mechanism that disables the affected gene. This mechanism is more efficient in some individuals than others. It can influence disease outcomes and severity. We will engineer and apply tools and models to measure and manipulate this crucial cellular mechanism. This will allow us to predict disease severity as well as to intervene where a manipulation of this mechanism will be beneficial.
ARC Research Network in Spatially Integrated Social Science. The ARC Research Network in Spatially Integrated Social Science (SISS) builds Australia's capacity and capability for innovative, collaborative, cross-disciplinary effort to investigate the impacts of change on the behaviour and well-being of people and the fortunes of places. SISS theories and research tools permit the integration of diverse and complex databases, the generation of new synthetic datasets, the incorporation of spatial ....ARC Research Network in Spatially Integrated Social Science. The ARC Research Network in Spatially Integrated Social Science (SISS) builds Australia's capacity and capability for innovative, collaborative, cross-disciplinary effort to investigate the impacts of change on the behaviour and well-being of people and the fortunes of places. SISS theories and research tools permit the integration of diverse and complex databases, the generation of new synthetic datasets, the incorporation of spatial concepts into statistical analysis and modelling, powerful visualisation of information, and the building spatial decision support systems, to provide an improved evidence base and better informed decision-making to address the significant challenges facing Australia's people and its places.Read moreRead less
Improving the health and wellbeing of poorly housed Australians: understanding and responding to multiple housing deficit. Australia is currently in a housing crisis, with many escalating problems, including poor affordability, chronic undersupply, homelessness, insecurity in the private rental market and a shrinking public housing sector. While some Australians are unaffected, increasing numbers of already vulnerable people experience multiple housing problems. This project aims to develop a ne ....Improving the health and wellbeing of poorly housed Australians: understanding and responding to multiple housing deficit. Australia is currently in a housing crisis, with many escalating problems, including poor affordability, chronic undersupply, homelessness, insecurity in the private rental market and a shrinking public housing sector. While some Australians are unaffected, increasing numbers of already vulnerable people experience multiple housing problems. This project aims to develop a new theoretical framework for focusing on Australians who experience multiple housing problems. It aims to identify who will be affected, how this will play out on individual health and wellbeing, and how governments can best respond. It will provide essential evidence and intervention tools for understanding and improving the lives of the most vulnerable.Read moreRead less
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.
Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and ....Genetic dissection of a regulatory deubiquitlyation network. The potential impact of this work is widespread, because although it is known that ubiquitlyation has regulatory consequences in multicellular eukaryotes, individual networks have not been completely described in higher eukaryotes. Knowledge gained about fundamental processes in the A. nidulans model system is directly applicable to fungi used in biotechnology in the food, beverage, enzyme and pharmaceutical production industries, and to fungal pathogens. Since the fungal genes that form the basis of this project are conserved in higher eukaryotes including humans, the knowledge will be transferable to these systems. A further benefit that cannot be overstated is the research education and training opportunities provided.
Read moreRead less
Pathways for Indigenous and Western knowledge into Environmental Policy. The aim of this project is to identify the ways in which all knowledge, particularly Western and Indigenous knowledges can work together to inform environmental policy, with a focus on climate change adaptation. Using participatory methodologies and supported by an Indigenous led advisory group, the project will partner with Indigenous Ranger groups to interrogate three key knowledge management concepts: integration, co-pro ....Pathways for Indigenous and Western knowledge into Environmental Policy. The aim of this project is to identify the ways in which all knowledge, particularly Western and Indigenous knowledges can work together to inform environmental policy, with a focus on climate change adaptation. Using participatory methodologies and supported by an Indigenous led advisory group, the project will partner with Indigenous Ranger groups to interrogate three key knowledge management concepts: integration, co-production and co-existence. Based on communities of practice, in the Kati Thanda-Lake Eyre Basin, Australia, the Fellowship seeks to produce mechanisms of knowledge co-existence and maintenance that will contribute to stronger environmental policies and create spaces for Indigenous voices to be represented within them.Read moreRead less
Industrial Transformation Training Centres - Grant ID: IC170100016
Funder
Australian Research Council
Funding Amount
$3,123,492.00
Summary
ARC Training Centre for Personalised Therapeutics Technologies. The ARC Training Centre for Personalised Therapeutics Technologies aims to create and develop the skills and technology to benefit from the transformative impacts that cell/organ-on-a-chip technology will have on the medtech/pharma industries. By combining microfluidics-based/real-time technologies with personalised medicine the Training Centre will provide industry growth opportunities through improved screening of potential therap ....ARC Training Centre for Personalised Therapeutics Technologies. The ARC Training Centre for Personalised Therapeutics Technologies aims to create and develop the skills and technology to benefit from the transformative impacts that cell/organ-on-a-chip technology will have on the medtech/pharma industries. By combining microfluidics-based/real-time technologies with personalised medicine the Training Centre will provide industry growth opportunities through improved screening of potential therapeutics. The use of an individual patient’s cellular and molecular research findings will ultimately enable personalised diagnostic and therapeutic decisions.Read moreRead less
Pathways to health and wellbeing through housing: a new causal understanding of relationships, processes and interventions. Does housing make Australians healthier or less healthy, how can we target housing assistance so that it improves individual health and wellbeing? This research answers these questions, it develops new methods for understanding the complex causal relationship between housing and health, and evidence of how housing can improve health and wellbeing.