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Mutation Analysis Of Novel Candidate Genes For X-linked Charcot Marie Tooth (CMTX3) Neuropathy.
Funder
National Health and Medical Research Council
Funding Amount
$191,434.00
Summary
Our goal is to explore how peripheral nerves degenerate by identifying the gene mutation causing an X linked form of Charcot Marie Tooth neuropathy (CMTX3). Using bioinformatic resources and state of the art gene mutation scanning we will complete characterisation and systematic screening of candidate genes and novel transcripts in the region. Discovery of this gene will provide a means to determine mechanisms causing axonal degeneration and lead to targeted therapeutic treatment strategies.
Dominant Repeat Expansion Diseases - A Common RNA Mediated Pathogenic Pathway?
Funder
National Health and Medical Research Council
Funding Amount
$281,118.00
Summary
There are fourteen human genetic diseases that are caused by a similar mutation mechanism and have similar clinical outcomes - the loss of function, degeneration and eventual death of nerve cells. This group of diseases includes Huntington's Disease. They are transmitted from parent to offspring such that each child of an affected parent has 50% risk of inheriting the affected gene and therefore developing the disease. The symptoms of these diseases typically develop later in life - between the ....There are fourteen human genetic diseases that are caused by a similar mutation mechanism and have similar clinical outcomes - the loss of function, degeneration and eventual death of nerve cells. This group of diseases includes Huntington's Disease. They are transmitted from parent to offspring such that each child of an affected parent has 50% risk of inheriting the affected gene and therefore developing the disease. The symptoms of these diseases typically develop later in life - between the ages of 35 and 50 years. While the different genes for these diseases have been identified the pathways that lead from their similar form of mutation to their similar clinical outcomes are not yet understood. Some evidence suggests that certain of these diseases have a common toxic component but this component is not shared by all of the disease genes and so an additional agent that they have in common is being sought. This research will use a genetic model organism - the vinegar fly, Drosophila melanogaster, to test the identity of a good candidate (RNA) for a common toxic agent and to provide information about the pathway by which RNA leads to nerve cell degeneration and death. Accurate and complete knowledge of the identity and composition of the pathways that lead from the mutation to the disease are crucial for correct target identification in the development of drug leads.Read moreRead less
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
Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.
Understanding the molecular mechanisms of intellectual disability. Intellectual disability is frequent in the population, with one in every fifty people in the world directly affected. This project will improve our understanding of the correct development and function of the brain required for cognition by investigating specific roles and regulation of key molecules involved.
Development of the PD GeneChip: a research and diagnostic tool for Parkinson's disease. The PD GeneChip will provide both social and economic benefits to Australia. It will be a key research platform for Australian scientists, and will facilitate collaboration both within Australia and overseas. It will assist with health care management of PD (Parkinson's disease) patients by providing a cost-effective diagnostic tool and the possibility of predicting the clinical course of disease. This inform ....Development of the PD GeneChip: a research and diagnostic tool for Parkinson's disease. The PD GeneChip will provide both social and economic benefits to Australia. It will be a key research platform for Australian scientists, and will facilitate collaboration both within Australia and overseas. It will assist with health care management of PD (Parkinson's disease) patients by providing a cost-effective diagnostic tool and the possibility of predicting the clinical course of disease. This information will provide the basis for tailoring treatment to a patients needs. It is anticipated that marketing of the PD GeneChip within Australia and overseas may produce revenue of at least $40 million annually.Read moreRead less
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
Imaging genetics in schizophrenia and bipolar disorder: shared neurocognitive endophenotypes. Combined, schizophrenia and bipolar disorder afflict approximately 506,000 Australians at any one time, and are leading causes of disability and national economic burden. This study will delineate genetic underpinnings for these conditions in association with specific neurocognitive dysfunctions that are common to both disorders. These findings have important implications for the implementation of perso ....Imaging genetics in schizophrenia and bipolar disorder: shared neurocognitive endophenotypes. Combined, schizophrenia and bipolar disorder afflict approximately 506,000 Australians at any one time, and are leading causes of disability and national economic burden. This study will delineate genetic underpinnings for these conditions in association with specific neurocognitive dysfunctions that are common to both disorders. These findings have important implications for the implementation of personalised pharmaceutical treatments on the basis of genotype, and the development of therapeutic agents to target cognitive function. These results will also aid detection of premorbid psychotic illness in young individuals who may benefit from early intervention that may thwart the illness trajectory. Read moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668246
Funder
Australian Research Council
Funding Amount
$400,000.00
Summary
Advanced Cell Labelling and Imaging Facility. Understanding the genetic regulation of cellular processes such as migration, differentiation and growth is an important frontier technology with significant biomedical potential. The Australian community is facing an increasing need to provide solutions for a variety of human diseases and disorders, including birth defects, nervous system injury and stroke, and ageing-related conditions. The proposed facility will allow researchers to test in vivo g ....Advanced Cell Labelling and Imaging Facility. Understanding the genetic regulation of cellular processes such as migration, differentiation and growth is an important frontier technology with significant biomedical potential. The Australian community is facing an increasing need to provide solutions for a variety of human diseases and disorders, including birth defects, nervous system injury and stroke, and ageing-related conditions. The proposed facility will allow researchers to test in vivo gene/pharmaceutical therapies as well as to better understand the genetic regulation of normal cellular processes. Read moreRead less
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.