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
The Extinction Of Conditioned Fear And Its Implications For Cue Exposure Therapy
Funder
National Health and Medical Research Council
Funding Amount
$322,430.00
Summary
This project studies extinction of Pavlovian conditioned fear reactions in rats. Extinction of these reactions is an animal model for exposure therapy used in the treatment of anxiety disorders in people. In exposure therapy, the patient, aided by the clinician, confronts trauma-related cues in the absence of any overt danger. The intention of this therapy is to reduce the ability of the trauma-related cues to provoke the fear reactions that are undermining the patient's quality of life. In Pavl ....This project studies extinction of Pavlovian conditioned fear reactions in rats. Extinction of these reactions is an animal model for exposure therapy used in the treatment of anxiety disorders in people. In exposure therapy, the patient, aided by the clinician, confronts trauma-related cues in the absence of any overt danger. The intention of this therapy is to reduce the ability of the trauma-related cues to provoke the fear reactions that are undermining the patient's quality of life. In Pavlovian conditioning, subjects (typically rats) are exposed to a signaling relation between an initially neutral stimulus (e.g., a noise) and a feared outcome (e.g., foot shock). When later repeatedly exposed to the initially neutral but now feared stimulus (the noise) in the absence of the feared outcome, the fear reactions it acquired progressively decline until eventually it fails to elicit any such reactions. The fear reactions are said to have been extinguished. There has been significant progress in understanding the psychological processes and neural mechanisms underlying the acquisition of fear reactions, but much less is known about the processes and mechanisms underlying the extinction of these reactions. The project has two general objectives. The first is to determine the conditions of extinction training that promote long-term loss of fear reactions. The second objective is to determine how the brain controls this extinction of learned fear. Achieving these aims will be significant for two reasons. First, it will contribute to understanding the mechanisms by which animals (including people) learn to adjust their behaviour to bring it into line with the current relations that exist between events in the world. Second, it will provide important information about how such adjustment is facilitated or impaired across extinction training and, thereby, contribute towards understanding both the successes and failures of cue exposure therapy for fear-related disorders.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
Cognitive Enhancement In Schizophrenia Via Selective Oestrogen Receptor Modulator.
Funder
National Health and Medical Research Council
Funding Amount
$396,380.00
Summary
Cognitive dysfunction in schizophrenia is resistant to treatment and related to poor community functioning and quality of life. In spite of the widely appreciated magnitude of the problem, there is still a critical gap in our knowledge concerning treatments to reverse these cognitive deficits. The proposed research is significant because it will clarify the role of hormones and genes in relation to cognitive deficits in schizophrenia and it may help patients improve their level of functioning.
Discrimination learning in humans: Associative and attentional mechanisms. This project offers three major benefits: (1) Australian researchers excel in cognitive neuroscience, learning and psychopharmacology, areas based largely on animal models of human cognition. This project contributes to these areas by specifying the relationship between animal learning and human cognition; (2) the project enhances Australia's international reputation in these areas via its collaboration with a scientist ....Discrimination learning in humans: Associative and attentional mechanisms. This project offers three major benefits: (1) Australian researchers excel in cognitive neuroscience, learning and psychopharmacology, areas based largely on animal models of human cognition. This project contributes to these areas by specifying the relationship between animal learning and human cognition; (2) the project enhances Australia's international reputation in these areas via its collaboration with a scientist of Geoff Hall's stature; it also offers students outstanding research training and international exposure; (3) given Chris Mitchell's industry experience and the relevance of this work to advertising/marketing, this project will generate knowledge relevant to, and possible future collaborations with, Australian industries.Read moreRead less
The Development of Creative Thinking Ability in TAFE Design Students. The aim is to develop an instructional framework as a conceptual basis for instruction aimed at TAFE design student use of imagery in creative thinking. The research addresses the challenges of recent post-compulsory education initiatives, which include a more specific focus on the development of creative problem-solving skills, but provide little guidance on instructional strategies. The research will synthesise the framewo ....The Development of Creative Thinking Ability in TAFE Design Students. The aim is to develop an instructional framework as a conceptual basis for instruction aimed at TAFE design student use of imagery in creative thinking. The research addresses the challenges of recent post-compulsory education initiatives, which include a more specific focus on the development of creative problem-solving skills, but provide little guidance on instructional strategies. The research will synthesise the framework from theories about cognitive processes, creative problem-solving and the use of mental imagery; and the results of an imagery training program and creative problem-solving interventions. The outcome will be an instructional framework for guiding the development of student creative thinking in design-based courses in TAFE.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