Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base ....Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base essential for the translation of the project into public benefit through their application in development of new testing paradigms for a range of brain and mind disorders. Read moreRead less
Truncating presenilin mutations and their effects on gamma-secretase activity, tau and beta-catenin - insights into Alzheimers disease and cancer. Cancer and dementia are primarily afflictions of the aged and are increasingly important in an aging Australian population. 95% of all Alzheimer's disease is spontaneous (not inherited) but we know little about the molecular mechanisms underlying it. Our discovery that truncated presenilin proteins potently inhibit normal protein function suggests tha ....Truncating presenilin mutations and their effects on gamma-secretase activity, tau and beta-catenin - insights into Alzheimers disease and cancer. Cancer and dementia are primarily afflictions of the aged and are increasingly important in an aging Australian population. 95% of all Alzheimer's disease is spontaneous (not inherited) but we know little about the molecular mechanisms underlying it. Our discovery that truncated presenilin proteins potently inhibit normal protein function suggests that changes in presenilin function in aged cells might be a common molecular link between spontaneous and inherited Alzheimer's disease and could contribute to frontotemporal dementia and cancer. Our research will show whether this phenomenon might provide a breakthrough in our understanding of these diseases and be a productive area for research into their amelioration and/or prevention.Read moreRead less
Investigating differences in decision-making ability in older adults. This project aims to investigate how healthy ageing impacts decision making and its associated neural circuits using computation modelling and neurogenetic methods. Decision-making is a fundamental cognitive ability, allowing us to choose the best course of action. This project will investigate the relationship between genes and decision-making performance across the adult lifespan. Expected outcomes include a deeper understan ....Investigating differences in decision-making ability in older adults. This project aims to investigate how healthy ageing impacts decision making and its associated neural circuits using computation modelling and neurogenetic methods. Decision-making is a fundamental cognitive ability, allowing us to choose the best course of action. This project will investigate the relationship between genes and decision-making performance across the adult lifespan. Expected outcomes include a deeper understanding of how decision-making evolves in healthy ageing, and a tool based on genetic scores and computational modelling to predict an individual's trajectory of cognitive function. This could help identify individuals who are at risk for cognitive decline, which could then inform better interventions.Read moreRead less
Function and redundancy of SOX genes in the mammalian sex determination pathway. We are studying a mouse model of abnormal sex organ development in which genetically female mice develop as males. Our basic research program will lead to greater understanding of the genetic switch controlling the formation of male and female characteristics. This research should in turn provide insight into the causes of defects in patients with disorders of sex development, helping to inform the difficult clinica ....Function and redundancy of SOX genes in the mammalian sex determination pathway. We are studying a mouse model of abnormal sex organ development in which genetically female mice develop as males. Our basic research program will lead to greater understanding of the genetic switch controlling the formation of male and female characteristics. This research should in turn provide insight into the causes of defects in patients with disorders of sex development, helping to inform the difficult clinical decisions that need to be made for their treatment, and ultimately leading to better management and therapeutic strategies. Our studies may also provide unique methods to control the exotic mouse population, using the daughterless strategy.Read moreRead less
Specification of the nerve cell subtypes in the developing central nervous system. Different subtypes of nerve cells in the brain, which carry out distinct functions, are generated in the embryo by the co-ordinated action of many genes. This project aims to use the genetic advantages of the zebrafish to determine the role of genes in specifying the final fates of nerve cells in the retina, which analyses visual signals within the eye.
Elucidating the neural pathways and genetic basis of speech. The project will elucidate the biological basis of speech, a unique feature of the human condition. The project will do this by i) discovering genes associated with speech disorder and ii) defining the neural pathways associated with speech production. This study will address critical questions regarding gene, brain and behaviour relationships in speech.
Structure and function of a new class of multi-zinc finger (MZF) transcriptional regulators. An understanding of how genes are switched on and off during the development and lifetime of an organism is central to developing the ability to fight many diseases in a rational way. This project will advance our knowledge in this area at a fundamental molecular level by examining the mechanisms through which a specific set of proteins controls gene expression.
CD151 and functional overlap in tetraspanins. The applicants are currently world leaders in the tetraspanin field. This project will enhance existing international collaborations to maintain and increase the applicants', and hence Australia's, international standing in this field and Australia's reputation in cell and molecular biology in general.
The project will greatly increase our understanding of this important but poorly understood family of proteins. It will also provide training opport ....CD151 and functional overlap in tetraspanins. The applicants are currently world leaders in the tetraspanin field. This project will enhance existing international collaborations to maintain and increase the applicants', and hence Australia's, international standing in this field and Australia's reputation in cell and molecular biology in general.
The project will greatly increase our understanding of this important but poorly understood family of proteins. It will also provide training opportunities for postgraduate students in state-of-the-art approaches in biotechnology.Read moreRead less
The Role of C-kit and Selected TGF beta Family Members in Recruitment. The recruitment of primordial follicles into the growth phase is central to female reproductive function, however the control of this process to date, has been poorly understood due to inadequate technologies. Our team has recently developed novel recruitment models and a new and innovative method of isolating primordial follicles which will enable us to identify the role of c-kit and selected TGF beta family members in recru ....The Role of C-kit and Selected TGF beta Family Members in Recruitment. The recruitment of primordial follicles into the growth phase is central to female reproductive function, however the control of this process to date, has been poorly understood due to inadequate technologies. Our team has recently developed novel recruitment models and a new and innovative method of isolating primordial follicles which will enable us to identify the role of c-kit and selected TGF beta family members in recruitment. This work will provide cornerstone scientific knowledge about the control of female reproduction and provide the impetus for the development of more effective contraception and superovulation strategies in mammals.Read moreRead less
Are neurobehavioural and neuromotor impairments associated with FMR1 gene expansion? The gene that causes Fragile X syndrome is found at the end of the X chromosome and is present in all humans. In many cases there is a small to medium change in this gene that may cause psychological and motor difficulties in later adulthood. The core aim of this project is to identify early age-related changes that would indicate later neurological decline.