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.
Using 3D printing to improve access to graphics by vision-impaired people. This project aims to investigate the possible benefits of 3D printing for production of accessible materials for vision-impaired people. Currently tactile graphics are used to provide severely vision-impaired adults and children with access to graphical content used in education and in orientation and mobility training. This project is expected to clarify the kinds of graphics for which 3D prints are better suited than ta ....Using 3D printing to improve access to graphics by vision-impaired people. This project aims to investigate the possible benefits of 3D printing for production of accessible materials for vision-impaired people. Currently tactile graphics are used to provide severely vision-impaired adults and children with access to graphical content used in education and in orientation and mobility training. This project is expected to clarify the kinds of graphics for which 3D prints are better suited than tactile graphics, and to build capacity within the national accessible format provision sector for the production and use of 3D prints. Benefits will include increased educational opportunities and quality of life for Australians with severe vision impairment, through improved access to graphic materials used in education and orientation and mobility training.
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Imaging The Hepatitis C Virus Life Cycle In Real-time
Funder
National Health and Medical Research Council
Funding Amount
$477,504.00
Summary
Hepatitis C virus (HCV) is a serious viral pathogen that causes significant liver disease. This proposal plans to examine how two proteins from the HCV, core and NS5A, interact with host proteins and pathways to facilitate viral replication and release of HCV; two processes that are poorly understood. Specifically we will tag viral proteins to allow us to investigate the HCV life cycle in living cells and determine the role of core and NS5A in facilitating HCV replication. This proposal may unco ....Hepatitis C virus (HCV) is a serious viral pathogen that causes significant liver disease. This proposal plans to examine how two proteins from the HCV, core and NS5A, interact with host proteins and pathways to facilitate viral replication and release of HCV; two processes that are poorly understood. Specifically we will tag viral proteins to allow us to investigate the HCV life cycle in living cells and determine the role of core and NS5A in facilitating HCV replication. This proposal may uncover novel therapeutic strategies to combat HCV.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.
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Deformable Surfaces Supporting 3D Tactile Human Computer Interactions. This project will support Research Priority 3: Frontier Technologies for Building and Transforming Australian Industries. The results will provide information that will further build our understanding of human computer interactions. Digital Foam supports Smart Information Use by providing a new interaction paradigm for existing and new creative applications for digital technologies. The new form of interaction provides a new ....Deformable Surfaces Supporting 3D Tactile Human Computer Interactions. This project will support Research Priority 3: Frontier Technologies for Building and Transforming Australian Industries. The results will provide information that will further build our understanding of human computer interactions. Digital Foam supports Smart Information Use by providing a new interaction paradigm for existing and new creative applications for digital technologies. The new form of interaction provides a new computer interaction product in itself and the ability to make a more efficient creative environment for designers of 3D content, multi-media and manufacturing design. This technology supports the ability of organisations to operate virtually and collaborate across large distances in Australia and internationally.Read moreRead less
Discovery Early Career Researcher Award - Grant ID: DE220100265
Funder
Australian Research Council
Funding Amount
$417,000.00
Summary
A closed-loop human–agent learning framework to enhance decision making. This project aims to design a foundational human–agent learning framework to augment the decision making process, using reinforcement and closed-loop mechanisms to enable symbiosis between a human and an artificial-intelligence agent. It envisages significant new technologies to promote controllability and efficient and safe exploration of an environment for decision actions – drastically boosting learning effectiveness and ....A closed-loop human–agent learning framework to enhance decision making. This project aims to design a foundational human–agent learning framework to augment the decision making process, using reinforcement and closed-loop mechanisms to enable symbiosis between a human and an artificial-intelligence agent. It envisages significant new technologies to promote controllability and efficient and safe exploration of an environment for decision actions – drastically boosting learning effectiveness and interpretability in decision making. Expected outcomes will benefit national cybersecurity by improving our understanding of vulnerabilities and threats involving decision actions, and by ensuring that human feedback and evaluations can help prevent catastrophic events in explorations of dynamic and complex environments.Read moreRead less
Development and regulation of thermogenesis in thermoregulating flowers. Flowers of certain primitive plants produce enough heat to raise their temperatures up to 40 C above the air, and regulate it at a nearly constant level. Like warm-blooded mammals, the flowers increase heat production as environmental temperature falls. However, they thermoregulate on a cellular level, unlike mammals with their complex nervous system. We aim to elucidate the mechanisms involved in regulation of heat-prod ....Development and regulation of thermogenesis in thermoregulating flowers. Flowers of certain primitive plants produce enough heat to raise their temperatures up to 40 C above the air, and regulate it at a nearly constant level. Like warm-blooded mammals, the flowers increase heat production as environmental temperature falls. However, they thermoregulate on a cellular level, unlike mammals with their complex nervous system. We aim to elucidate the mechanisms involved in regulation of heat-production, with molecular, biochemical and stable isotope techniques. We will investigate spatial and temporal patterns of gene expression and activity of putative regulatory enzymes. The results will have implications for human physiology and agriculture.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.