Molecular Genetics Of Dyslexia: A Component Processes Approach
Funder
National Health and Medical Research Council
Funding Amount
$348,960.00
Summary
With the advent of the human genome project, Australian researchers into serious childhood reading disorders are now in a position to make breakthroughs in understanding the complex linkages between genes and dyslexia. It is widely acknowledged that previous studies on the genetics of dyslexia have been limited by their failure to distinguish the different component processes in reading and the different patterns of dyslexia that they produce, and by being unable to look widely across the human ....With the advent of the human genome project, Australian researchers into serious childhood reading disorders are now in a position to make breakthroughs in understanding the complex linkages between genes and dyslexia. It is widely acknowledged that previous studies on the genetics of dyslexia have been limited by their failure to distinguish the different component processes in reading and the different patterns of dyslexia that they produce, and by being unable to look widely across the human genome. This new research addresses these two problems. Firstly, the researchers have developed a computational model of reading that identifies around a dozen basic mental processes which are recruited during skilled reading. This model provides the extremely precise phenotypes required for genetic research. Secondly, the researchers will take advantage of both very high density scans within known regions of interest on chromosomes 2,6, and 15, as well as a genome-wide scan of 400 markers small elements of DNA whose position within the genome is known, thus allowing researchers to narrow-down the location of new genes for reading. The research thus promises not only to refine our understanding of the basis for three previous genetic markers of dyslexia, but also to potentially uncover new genes related to specific elements of reading across the genome. The project pools the resources of the Macquarie Centre for Cognitive Science, the Australian Genome Research Facility, and The Garvan Institute and the researchers hope that the work will lead eventually to identifying the genes for dyslexia and to improved diagnosis and treatment of reading disorders in Australia.Read moreRead less
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
The articulate brain. Language is essential to human interaction, yet we know comparatively little about the mental processes involved and how they are represented in the brain, how genetic and environmental factors contribute to the development of language, or how effective treatments of language disorders work. The significance of this program of research lies in its capacity to enhance our understanding of a range of mechanisms responsible for a fundamentally human ability, and provide inform ....The articulate brain. Language is essential to human interaction, yet we know comparatively little about the mental processes involved and how they are represented in the brain, how genetic and environmental factors contribute to the development of language, or how effective treatments of language disorders work. The significance of this program of research lies in its capacity to enhance our understanding of a range of mechanisms responsible for a fundamentally human ability, and provide information that will ultimately inform clinical practice. In particular, new knowledge about the brain mechanisms involved in language processing and recovery will inform clinicians about the optimal choice of treatment to maximise outcomes for the individual patient. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0882219
Funder
Australian Research Council
Funding Amount
$100,000.00
Summary
Infrastructure for an integrated cognitive neurophysiological research facility: Mapping the neurobiology of memory and language. The Integrated Cognitive Neurophysiological Research Facility will enhance Australia's national research capacity in cognitive neuroscience by enabling large numbers of researchers and graduate students to investigate the neuroscience of memory and language in a collaborative, multi-disciplinary research environment. The facility will deliver national benefits by unco ....Infrastructure for an integrated cognitive neurophysiological research facility: Mapping the neurobiology of memory and language. The Integrated Cognitive Neurophysiological Research Facility will enhance Australia's national research capacity in cognitive neuroscience by enabling large numbers of researchers and graduate students to investigate the neuroscience of memory and language in a collaborative, multi-disciplinary research environment. The facility will deliver national benefits by uncovering the ways in which areas of the brain are used to remember events and process language. This information can then be used to understand how damage to the brain (such as in stroke or disease) can disrupt memory and language and subsequently lead to more effective neurorehabilitation techniques.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
I work on mitochondrial diseases, which are inherited disorders of metabolism that block conversion of food energy into chemical energy needed by our cells. We focus on understanding (i) the genetic basis of these disorders using approaches such as massively parallel sequencing, systems biology and experimental studies, and (ii) the detailed mechanisms of disease by studying cell lines from patients and animal models. We aim to develop better methods for diagnosis, treatment and prevention.
Novel Gene Identification And Characterisation In Epilepsy.
Funder
National Health and Medical Research Council
Funding Amount
$303,964.00
Summary
Epilepsy is a serious neurological disorder affecting up to 5% of the population at some point in their lives. Approximately 70% cases of epilepsy are genetic, but very few of the genes involved have been identified. This project will use state-of-the-art techniques to identify genetic mutations causing an inherited form epilepsy affecting infants. This research is expected to reveal new gene families involved in the genesis of epilepsy and thus new targets for the development of treatments.
The Role Of The Neuronal Splicing Factor A2BP1 In Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$396,412.00
Summary
Autism spectrum disorders (ASD) are characterized by language deficits, social impairments and repetitive-restrictive behaviors. ASD is one of the most highly heritable neuropsychiatric conditions, and at the same time genetically very heterogeneous. We have recently shown that shared gene expression abnormalities can be identified in postmortem brain from ASD patients. We now propose to investigate the mechanisms and functional consequences of gene expression abnormalities in ASD.
Investigating The Pathogenic Mechanism Of Mutations In IQSEC2 Causing Non-syndromic Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$449,016.00
Summary
Intellectual disability is frequent in the population, as many as 1 in every 50 people in the world affected. Mutations in IQSEC2, an X-chromosome gene, cause intellectual disability. We will screen 1000 families with this disability for mutations in IQSEC2, building the picture of disease symptoms, contributing to informed genetic counselling. We will investigate functional impacts of these mutations in neuronal cultures, increasing our understanding of the causes of intellectual disability.
Approaches To Therapy For The Skeletal Muscle Actin Diseases
Funder
National Health and Medical Research Council
Funding Amount
$912,078.00
Summary
We have shown that errors in a crucial muscle protein called actin cause muscle diseases that affect newborn children. These diseases are mainly very severe, causing death within the first year of life. Currently there is no cure. This project will investigate possible therapies for these diseases, such as viral delivery of a normal version of actin and finding a drug to overcome the weakness. Successful outcomes will crucially bring treatment closer for the patients.