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
Tailoring A Brief Sleep Intervention For Autism: A Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$401,475.00
Summary
Up to 86% of children with Autism Spectrum Disorder (ASD) experience behavioural sleep problems which have been shown to be associated with increased core ASD symptoms, increased rates of internalizing and externalizing disorders, and increased parental stress. The “Sleeping Sound” study is a novel behavioural sleep intervention that has shown much promise as a treatment to reduce sleep problems and improve mental health outcomes in children with ASD.
Preventing Mental Health Problems In Children: A Population-based Cluster Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$431,133.00
Summary
14% of Australian children develop mental health problems. As treatment is time and cost intensive, prevention is the ideal model. This can be targeted to ‘at risk’ children, but may stigmatise families and have poor uptake. This project aims to trial whether a population targeted approach embedded in universal prevention performs better than targeted prevention alone, with each approach compared to ‘usual care’. The local and state government partners will ensure sustainability, policy relevanc ....14% of Australian children develop mental health problems. As treatment is time and cost intensive, prevention is the ideal model. This can be targeted to ‘at risk’ children, but may stigmatise families and have poor uptake. This project aims to trial whether a population targeted approach embedded in universal prevention performs better than targeted prevention alone, with each approach compared to ‘usual care’. The local and state government partners will ensure sustainability, policy relevance and uptake if effectiveRead moreRead less
Modelling Adversarial Noise for Trustworthy Data Analytics. Adversarial robustness is a core property of trustworthy machine learning. This project aims to equip machines with the ability to model adversarial noise for defending adversarial attacks. The project expects to produce the next great step for artificial intelligence – the potential to robustly explore and exploit deceptive data. Expected outcomes of this project include theoretical foundations for modelling adversarial noise and the n ....Modelling Adversarial Noise for Trustworthy Data Analytics. Adversarial robustness is a core property of trustworthy machine learning. This project aims to equip machines with the ability to model adversarial noise for defending adversarial attacks. The project expects to produce the next great step for artificial intelligence – the potential to robustly explore and exploit deceptive data. Expected outcomes of this project include theoretical foundations for modelling adversarial noise and the next generation of intelligent systems to accommodate data in a noisy and hostile environment. This should benefit science, society, and the economy nationally and internationally through the applications to trustworthily analyse their corresponding complex data. 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
Quantum Generative Diffusion Models for Molecular Research. This project will devise quantum generative diffusion models to equip classical counterparts with the ability to harness quantum data that naturally arise in molecular research. Theoretical foundations for analysing fast sampling methods with the help of inductive bias regarding the input data and employed circuits will validate efficient quantum generative diffusion models that have training and sampling advantages over classical count ....Quantum Generative Diffusion Models for Molecular Research. This project will devise quantum generative diffusion models to equip classical counterparts with the ability to harness quantum data that naturally arise in molecular research. Theoretical foundations for analysing fast sampling methods with the help of inductive bias regarding the input data and employed circuits will validate efficient quantum generative diffusion models that have training and sampling advantages over classical counterparts. Outcomes include applications in molecular conformation generation, compound screening, and drug design. The innovative research will significantly benefit Australia’s science, industry and health, and will maintain Australia’s global leading role in quantum machine learning and molecular research.Read moreRead less
Optimising students’ academic trajectories: The role of growth (‘personal best’) goals. Too many students fail to reach their academic potential and, as a result, they risk being systematically denied a sense of academic ‘success’ and progress. Through a focus on academic growth (and ‘personal bests’), this research project traverses complex terrain to identify the role of growth goals and growth goal setting in students’ academic trajectories. It also tackles methodological challenges that have ....Optimising students’ academic trajectories: The role of growth (‘personal best’) goals. Too many students fail to reach their academic potential and, as a result, they risk being systematically denied a sense of academic ‘success’ and progress. Through a focus on academic growth (and ‘personal bests’), this research project traverses complex terrain to identify the role of growth goals and growth goal setting in students’ academic trajectories. It also tackles methodological challenges that have impeded research progress in this compelling area. Through strategic international and institutional links, the research program will identify innovative approaches to academic growth and growth goals that will significantly assist pedagogy and psychology aimed at optimising students’ academic potential.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
Discovery Early Career Researcher Award - Grant ID: DE230100495
Funder
Australian Research Council
Funding Amount
$422,154.00
Summary
Structured Federated Learning for Personalised Intelligence on Devices. The project aims to develop a new structured federated machine-learning framework to enhance the customisation of artificial intelligence across mobile and smart devices. It seeks to enable users to receive customised services on their devices without sending their sensitive personal data to a cloud service provider. Anticipated benefits include greater privacy, data security and device performance, as well as better end-use ....Structured Federated Learning for Personalised Intelligence on Devices. The project aims to develop a new structured federated machine-learning framework to enhance the customisation of artificial intelligence across mobile and smart devices. It seeks to enable users to receive customised services on their devices without sending their sensitive personal data to a cloud service provider. Anticipated benefits include greater privacy, data security and device performance, as well as better end-user experience. Expected outcomes of this research include new knowledge, toolkits and algorithms for use in developing machine-learning based secure, efficient and fault-tolerant technologies for software applications, mobile services, cloud computing, autonomous vehicles and advanced manufacturing processes.Read moreRead less
Solving the inert knowledge problem. A central goal of education is for students to transfer what they learn to new contexts or problems. Indeed, expert reasoning is often characterised by seeing the deep structural commonalities across seemingly disparate situations. However, the knowledge students acquire is notoriously inert, tied to the specifics of the learning examples. This project aims to move towards solving 'the inert knowledge problem' by investigating how humans learn concepts define ....Solving the inert knowledge problem. A central goal of education is for students to transfer what they learn to new contexts or problems. Indeed, expert reasoning is often characterised by seeing the deep structural commonalities across seemingly disparate situations. However, the knowledge students acquire is notoriously inert, tied to the specifics of the learning examples. This project aims to move towards solving 'the inert knowledge problem' by investigating how humans learn concepts defined by abstract relational structure, and by designing educational applications that enhance the use of relational learning mechanisms in students with a wide range of cognitive abilities.Read moreRead less