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Advancing Diagnostics For The Congenital Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$69,500.00
Summary
The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatm ....The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.Read moreRead less
Identifying Disease Genes For Neurogenetic Disorders Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$2,523,023.00
Summary
This project aims to identify novel disease genes, in other words, find genes, which have not previously been shown to cause human diseases when they are mutated. The collaborating laboratories on the project in Perth, Sydney, Melbourne and Boston, USA have a successful history in working together in finding human disease genes, harnessing, in the last few years, the now readily available power of next generation DNA sequencing to accelerate disease gene discovery.
Molecular Mediators, Epigenetic Modulators And Therapeutic Targets For Cognitive Disorders
Funder
National Health and Medical Research Council
Funding Amount
$763,845.00
Summary
Brain disorders constitute an enormous, and growing, burden. My research investigates how genes and environment combine to cause disorders of cognition, including dementia, schizophrenia and autism. The research will provide new insights into these disorders, at the level of molecules, cells and behaviour. I will explore how genetic and environmental factors interact, with a focus on mental activity, physical exercise and stress, which affect a range of neurological and psychiatric disorders.
Epigenetic Impacts Of Paternal Experience On Offspring Anxiety And Cognition: Molecular Mediators And Therapeutic Targets
Funder
National Health and Medical Research Council
Funding Amount
$681,162.00
Summary
Stress and physical activity are two of the major lifestyle factors impacting on human health, including brain disorders. We have recently discovered that stress and exercise in male mice can impact the phenotype of offspring. We will study molecules in the sperm of these fathers, and in the brains of offspring to understand the mechanisms involved. There is evidence that lifestyle factors in men prior to conception impact on their children and this research has major public health implications.
Tackling The Complex Pathogenesis Of Non-Alzheimer Dementias And Motor Neurodegenerative Disorders
Funder
National Health and Medical Research Council
Funding Amount
$948,684.00
Summary
I research dementia and motor syndromes as there are no mechanistic treatments for these disorders, and for many there are no treatments at all. Without being able to identify the same diseases and differentiate them from other diseases, no treatments will be successful. To develop more reliably detection methods for these diseases, I perform longitudinally studies where the participants agree to donate serial biological samples and their brain tissue at death.
Gene-environment Interactions, Experience-dependent Plasticity And Pathogenic Mechanisms In Mouse Models Of Cognitive And Affective Disorders. Mental And Physical Activity As Modulators Of Brain And Behaviour In Healthy And Diseased States.
Funder
National Health and Medical Research Council
Funding Amount
$250,805.00
Summary
Our aim is to understand how genes and environment combine to affect susceptibility to various brain disorders. We are using specific models involving human gene mutations associated with diseases, and manipulating environmental factors such as mental and physical activity. We are focused on neurological and psychiatric disorders, including Huntington’s disease, depression and schizophrenia. These efforts to understand brain diseases will facilitate development of therapeutic approaches.
I am a physiologist investigating how the brain controls balance and movement. Many neurological disorders cause unsteady balance and problems with movement, and consequently a poor quality of life. I study people with disorders of the sensory and movement processing areas of the brain to discover how the brain combines different sensory information to control balance. This work will improve understanding of human balance and movement, and lead to new clinical techniques for assessment and treat ....I am a physiologist investigating how the brain controls balance and movement. Many neurological disorders cause unsteady balance and problems with movement, and consequently a poor quality of life. I study people with disorders of the sensory and movement processing areas of the brain to discover how the brain combines different sensory information to control balance. This work will improve understanding of human balance and movement, and lead to new clinical techniques for assessment and treatment.Read moreRead less
SRY: A Risk Factor For Parkinson’s Disease In Men?
Funder
National Health and Medical Research Council
Funding Amount
$514,015.00
Summary
Parkinson’s disease is a debilitating neurological disorder that affects over 70,000 Australians. This project will test the novel concept that the male sex-determination gene SRY is a risk factor for Parkinson’s disease in men. A potential implication of the work is that it will help explain why men are more susceptible to Parkinson’s disease than women, and may also provide avenues for the development of novel therapeutics for this condition.
New tools to activate and silence neural circuits. Many neurological disorders occur as a result of neuron cell death that is initiated by excessive levels of excitatory activity in central nervous system neurons. This project will develop and validate a new treatment for these disorders that involves silencing excessive neuronal activity using a safe, commonly prescribed drug.