Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
An Examination Of The Relationship Between Alcohol-related Injury (ARI) And Licensed Premises
Funder
National Health and Medical Research Council
Funding Amount
$78,686.00
Summary
There is growing interest in acute alcohol-related problems, and especially injuries. These are often experienced by young people, frequently as a consequence of intoxication or drinking in unsafe settings. Little work has been undertaken in Australia to systematically examined alcohol-related injuries (ARIs). This study will examine ARIs, identify the frequency with which such problems present to a local hospital, record the nature of the injuries, details of the person sustaining it, and the d ....There is growing interest in acute alcohol-related problems, and especially injuries. These are often experienced by young people, frequently as a consequence of intoxication or drinking in unsafe settings. Little work has been undertaken in Australia to systematically examined alcohol-related injuries (ARIs). This study will examine ARIs, identify the frequency with which such problems present to a local hospital, record the nature of the injuries, details of the person sustaining it, and the drinking location. Characteristics of drinking locations and drinking settings, in particular licensed premises, will be examined to determine their association with ARIs. Then an intervention will be undertaken in conjunction with local police, to address the conditions of the drinking environment with the aim of reducing ARIs and other alcohol-related problems stemming from licensed premises. The intervention will form part of a randomised controlled trial where licensed premises, identified through monthly police data as hot spots, receive either an intervention or act as a control. In the following month, controls receive the intervention (a cross-over design). The intervention was established in 1998 by Gold Coast police and involves police, fire and liquor licensing officers undertaking an on-site inspection and taking prescribed actions. It is hypothesised that this action should result in a decreased level of ARIs being generated from premises which receive the intervention, compared to those that do not. This is an intersectoral, collaborative project aimed at improving community safety through a concerted effort by police, health and the licensees.Read moreRead less
Evaluating models of category learning that use general feature-based representations. Three competing models of human category learning will be evaluated by comparing their behaviour to human performance on an experimental task where each model makes qualitatively different predictions. A series of theoretical and algorithmic advances will be undertaken to ensure each of the category learning models uses the same feature-based representation. Because the three models propose very different lear ....Evaluating models of category learning that use general feature-based representations. Three competing models of human category learning will be evaluated by comparing their behaviour to human performance on an experimental task where each model makes qualitatively different predictions. A series of theoretical and algorithmic advances will be undertaken to ensure each of the category learning models uses the same feature-based representation. Because the three models propose very different learning processes, their comparison will give insight into the basic cognitive process of categorisation. The algorithms for generating feature representations and modelling human category learning will also have potential for application in data visualisation and information handling systems.Read moreRead less
Psychological User Profiling in the Telecommunications Industry. Recording user behaviour allows businesses to learn about their customers. This is particularly important in telecommunications, since the core business involves a large number of users who vary considerably from one another. This project combines psychological insights with modern statistical methods to develop a psychologically plausible user profiling framework, accounting for the idiosyncratic usage patterns of customers, and t ....Psychological User Profiling in the Telecommunications Industry. Recording user behaviour allows businesses to learn about their customers. This is particularly important in telecommunications, since the core business involves a large number of users who vary considerably from one another. This project combines psychological insights with modern statistical methods to develop a psychologically plausible user profiling framework, accounting for the idiosyncratic usage patterns of customers, and the way in which they change over time. The profiles will be tied to marketing prospects through interviews and surveys. Applied benefits include the ability to predict, understand and act upon user behaviour. The project also adds substantially to theories of memory, individual differences and decision-making.Read moreRead less
Hierarchical Bayesian Models for Human Conceptual Learning. This project seeks to understand the nature of human conceptual learning. With the shift to an information-based economy, it becomes important to understand what assumptions a real-world learning system should make. Even given the impressive growth of machine learning and artificial intelligence, the human mind remains the most successful example of such a system. In this light, the scientific study of human conceptual structure present ....Hierarchical Bayesian Models for Human Conceptual Learning. This project seeks to understand the nature of human conceptual learning. With the shift to an information-based economy, it becomes important to understand what assumptions a real-world learning system should make. Even given the impressive growth of machine learning and artificial intelligence, the human mind remains the most successful example of such a system. In this light, the scientific study of human conceptual structure presents the opportunity to discover how an intelligent thinking system should operate. In addition, many important problems facing an information economy involve being able to understand how people behave. An understanding of the concepts people use is central to this endeavour.Read moreRead less
Improving eyewitness identification accuracy using free-report lineups. There is major national and community interest in the successful conduct of criminal investigations. This research addresses the accuracy of eyewitness identification tests. Specifically, we investigate whether developing lineup procedures that separate out witnesses who are unsure of their response will prevent erroneous identifications. Progress on this issue makes an important contribution to decisions about the ideal lin ....Improving eyewitness identification accuracy using free-report lineups. There is major national and community interest in the successful conduct of criminal investigations. This research addresses the accuracy of eyewitness identification tests. Specifically, we investigate whether developing lineup procedures that separate out witnesses who are unsure of their response will prevent erroneous identifications. Progress on this issue makes an important contribution to decisions about the ideal lineup procedure, thereby preventing innocent people from being prosecuted and perpetrators being free to re-offend. Additionally the international collaboration on the project will increase the visibility of Australian social science research and provide crucial development opportunities for young Australian scientists.Read moreRead less
Identifying the bad guy with deadlined confidence judgments. There is major interest in the successful conduct of criminal investigations. Identity tests are commonly used in such investigations, but eyewitness decision accuracy is still unacceptably low. While eyewitness memory research has already contributed significantly to the development of procedures that improve the diagnosticity of identification decisions, our proposal offers radical new alternatives that can significantly improve diag ....Identifying the bad guy with deadlined confidence judgments. There is major interest in the successful conduct of criminal investigations. Identity tests are commonly used in such investigations, but eyewitness decision accuracy is still unacceptably low. While eyewitness memory research has already contributed significantly to the development of procedures that improve the diagnosticity of identification decisions, our proposal offers radical new alternatives that can significantly improve diagnosticity. In refining and evaluating these alternatives we will boost the profile of Australian science research and provide rich international training environments for young Australian and overseas scientists.Read moreRead less
Interviewing eyewitnesses: Enhancing output quantity and diagnosing accuracy. Although there has been general international agreement that open-ended police interviews (e.g., the Cognitive Interview) enhance output quantity and accuracy, it is also well documented that police investigators often depart from these procedures in order to probe for additional information. An approach to eyewitness interviewing that allows police to elicit greater detail while able to assess likely accuracy not only ....Interviewing eyewitnesses: Enhancing output quantity and diagnosing accuracy. Although there has been general international agreement that open-ended police interviews (e.g., the Cognitive Interview) enhance output quantity and accuracy, it is also well documented that police investigators often depart from these procedures in order to probe for additional information. An approach to eyewitness interviewing that allows police to elicit greater detail while able to assess likely accuracy not only has the potential to be widely adopted but would also provide a major breakthrough in the investigation of crimes and other incidents where interview data are so critical. This in turn would further enhance the profile of Australian (and UK) forensic science.Read moreRead less
Learning to Reason in Reinforcement Learning. Deep Reinforcement Learning (RL) uses deep neural networks to represent and learn optimal decision-making policies for intelligent agents in complex environments. However, most RL approaches require millions of episodes to converge to good policies, making it difficult for RL to be applied in real-world scenarios taking significant resources. This project aims to equip RL with capabilities such as counterfactual reasoning and outcome anticipation to ....Learning to Reason in Reinforcement Learning. Deep Reinforcement Learning (RL) uses deep neural networks to represent and learn optimal decision-making policies for intelligent agents in complex environments. However, most RL approaches require millions of episodes to converge to good policies, making it difficult for RL to be applied in real-world scenarios taking significant resources. This project aims to equip RL with capabilities such as counterfactual reasoning and outcome anticipation to significantly reduce the number of interactions required, improve generalisation, and provide the agent with the capability to consider the cause-effects. These improvements would narrow the gap between AI and human capabilities and broaden the adoption of RL in real-world applications.Read moreRead less
Data analytics-based tools and methods to enhance self-regulated learning. This project aims to develop student self-regulated learning skills by harnessing the potential of Big Data analytics. The project expects to generate new knowledge at the intersection of learning analytics, educational technology, learning sciences and teaching practice resulting from novel data collection and analysis tools and methods. The outputs are expected to include insights into metacognitive, motivational, and t ....Data analytics-based tools and methods to enhance self-regulated learning. This project aims to develop student self-regulated learning skills by harnessing the potential of Big Data analytics. The project expects to generate new knowledge at the intersection of learning analytics, educational technology, learning sciences and teaching practice resulting from novel data collection and analysis tools and methods. The outputs are expected to include insights into metacognitive, motivational, and technical issues facing analytics-based personalised feedback. The outcomes are intended to offer benefits for developing pedagogical and the design of educational technology. The outcomes can result in improved student learning outcomes in higher education to ensure graduates are prepared for the digital economy.Read moreRead less