Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
Centre For Research Excellence In Speech And Language Neurobiology (CRE-SLANG)
Funder
National Health and Medical Research Council
Funding Amount
$2,491,340.00
Summary
Half a million Australian children have a speech/language disorder, tripling their changes of poor academic outcomes, limited employment options and social isolation. Current speech therapy is limited, focusing on symptoms and ignoring evidence on underlying aetiologies. By identifying and translating findings on new genes and brain pathways leading to speech and language disorders, we will transform detection, diagnosis, prognosis and genetic counselling of affected children and their families.
Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
The role of synapse development in cognitive disorder. In humans, intellectual disability occurs when nerve cells in the brain fail to connect. The project examines fundamental molecular processes involved in synapse development of neurons. The use of insect models provides a generalised biological template to understand how synaptic molecules contribute to behaviours that underlie cognitive disorder.
How do interactions between axon guidance molecules bring about directed axon growth? This project deals with a fundamental, yet poorly understood biological problem at the cutting edge of international science - how axons navigate to their targets. A better understanding of this basic biological process will greatly assist the development of therapies to treat a wide range of clinical conditions in which axonal connections between neurons are disrupted by trauma or disease.
Sitting Less And Moving More: Population Health Research To Understand And Influence Sedentary Behaviour
Funder
National Health and Medical Research Council
Funding Amount
$6,367,518.00
Summary
The majority of Australian adults spend most of their waking hours sitting: at home, at work, and in their cars; most do not participate in exercise or sport. This leads to weight gain and to diseases of inactivity (particularly diabetes, heart disease, cancer and depression). New research will measure sitting time and the physical activity in people's daily lives, what factors encourage inactivity, and how to increase activity levels, especially among the ageing 'baby boomer' population.
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
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.
Discovery Indigenous Researchers Development - Grant ID: DI0560757
Funder
Australian Research Council
Funding Amount
$160,896.00
Summary
Identification and Characterisation of Genes involved in the Copper Regulation of the Human Alzheimer's Disease Amyloid-Beta Precursor Protein (APP) Gene. Alzheimer's disease (AD) is the most common form of dementia in the ageing population. This research project aims to identify and characterise new genes involved in the copper regulation of the Alzheimer's disease gene. This may lead to the development of novel therapeutic targets and clinical intervention strategies as well as early diagnost ....Identification and Characterisation of Genes involved in the Copper Regulation of the Human Alzheimer's Disease Amyloid-Beta Precursor Protein (APP) Gene. Alzheimer's disease (AD) is the most common form of dementia in the ageing population. This research project aims to identify and characterise new genes involved in the copper regulation of the Alzheimer's disease gene. This may lead to the development of novel therapeutic targets and clinical intervention strategies as well as early diagnostic procedures in preventative healthcare for the treatment of AD. The benefits would affect the international community as a whole, potentially minimising the socio-economic costs arising from the predicted world-wide increase in AD in the ageing population.Read moreRead less