Identification And Characterisation Of A Novel Parkinson's Disease Gene
Funder
National Health and Medical Research Council
Funding Amount
$556,313.00
Summary
Parkinson’s disease (PD) is a complex neurological condition affecting 100,000 Australians. The primary clinical features of PD result from the selective loss of a specific type of neuron. These neurons make up less than 1% of the over 50 million neurons within the brain, and it is currently unclear why they are preferentially lost during disease development. We have identified a novel gene that causes early onset parkinsonism. This study will characterise the gene and determine what role it pla ....Parkinson’s disease (PD) is a complex neurological condition affecting 100,000 Australians. The primary clinical features of PD result from the selective loss of a specific type of neuron. These neurons make up less than 1% of the over 50 million neurons within the brain, and it is currently unclear why they are preferentially lost during disease development. We have identified a novel gene that causes early onset parkinsonism. This study will characterise the gene and determine what role it plays in the development of PD.Read moreRead less
Investigating The Clinical And Research Applications Of Whole-genome Sequencing In Parkinson Disease And Other Movement Disorders
Funder
National Health and Medical Research Council
Funding Amount
$266,623.00
Summary
There are many ‘movement disorders’ including Parkinson disease, dystonia, and hereditary spastic paraplegia. These disorders can be caused by mutations (errors in the genetic code) in different genes. The discovery of these genes has improved our understanding of the underlying disease mechanisms. We will use ‘whole genome sequencing’ to read a person’s entire genetic material in a single experiment, allowing us to identify a genetic diagnosis and to discover entirely new disease-causing genes.
Translating Epilepsy Research Into Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$188,226.00
Summary
We aim to turn laboratory science into real improvements in the health of people with epilepsy. Firstly, a rise in the acidity of the blood from breathing less and a rise in carbon dioxide, may contribute to seizures finishing. We aim to develop a safe, rapid, non-sedating way to treat seizures using a small amount of carbon dioxide in oxygen. Secondly, inherited problems with transporting sugar from the blood to the brain are increasingly recognised as a cause of epilepsy. We will develop a nat ....We aim to turn laboratory science into real improvements in the health of people with epilepsy. Firstly, a rise in the acidity of the blood from breathing less and a rise in carbon dioxide, may contribute to seizures finishing. We aim to develop a safe, rapid, non-sedating way to treat seizures using a small amount of carbon dioxide in oxygen. Secondly, inherited problems with transporting sugar from the blood to the brain are increasingly recognised as a cause of epilepsy. We will develop a nation-wide program to identify and treat theseRead moreRead less
Genetic And Functional Analysis Of Brain Malformations
Funder
National Health and Medical Research Council
Funding Amount
$105,327.00
Summary
Disorders of early brain development are recognised as a significant cause of illness and disability in children. Unfortunately, the causes of these conditions are poorly understood, and treatment options are limited. It has become apparent that many of these conditions have an underlying genetic basis. This project will identify genes that regulate brain development and aid the development of improved treatment programs for brain and mind disorders.
Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
L1 Retrotransposition: The Missing Link Between Genetics And Environmental Factors In Parkinson's Disease ?
Funder
National Health and Medical Research Council
Funding Amount
$604,644.00
Summary
The study proposed here focuses on understanding the role of specific mobile DNA sequences in the interaction between environmental and genetic risk factors causing Parkinson’s disease (PD) leading to dementia. The project proposes identification of mobile DNA induced mutations in post-mortem human PD patient brain samples. The significance and mechanisms of mobile DNA induced mutations will be then tested in a PD mouse model.
Interleukin-6 -gp130 Signaling And Actions In The CNS
Funder
National Health and Medical Research Council
Funding Amount
$549,092.00
Summary
Interleukin-6 (IL-6) is a member of a family of cytokine proteins that may be causative factors in many neurological disorders where they are involved in diverse processes including inflammation, neuronal injury and repair. In this project we will study how IL-6 affects the brain to bring about these outcomes. The results of this work will advance our understanding of how members of this cytokine family function and how they contribute to neurological disease.
Harnessing The Human Postmortem Brain To Elucidate Changes In FK506 Binding Protein (FKBP5) In The Neuropathology Of Severe Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$392,052.00
Summary
The postmortem human brain is a unique source to search for the pathological basis of severe psychiatric disorders including major depression, bipolar disorder and schizophrenia. Postmortem tissues are however being underutilised. This project will apply a selection of powerful biochemical measuring techniques to postmortem human brain tissues to uncover the molecular pathways of severe psychiatric disorders, which is knowledge that can lead to better treatments, preventions and cures.
Investigating Genetic Determinants Of Absence Epilepsy In A Polygenic Rat Model
Funder
National Health and Medical Research Council
Funding Amount
$458,481.00
Summary
The underlying genetic causes of idiopathic generalised epilepsies (IGE) are still largely unknown. In an animal model of IGE we have discovered novel genetic abnormalities an ion channel. This proposal will build upon these novel findings to examine the role these abnormalities have in determining the absence epilepsy phenotype and this work has the potential to provide vital information regarding the mechanisms by which this gene contributes to an IGE seizure phenotype.
Propagating Neural Waves: Combined Experimental and Modelling Study. The project is designed to measure propagating neural waves in visual areas of the brain to discover why and how they are created, how they interact with sensory inputs, and whether they can support brain plasticity and learning. Recent analysis of the brain’s electrical signals has showed that nerve cell activity is often organised into propagating waves, but how these waves are created, and what role they play in brain inform ....Propagating Neural Waves: Combined Experimental and Modelling Study. The project is designed to measure propagating neural waves in visual areas of the brain to discover why and how they are created, how they interact with sensory inputs, and whether they can support brain plasticity and learning. Recent analysis of the brain’s electrical signals has showed that nerve cell activity is often organised into propagating waves, but how these waves are created, and what role they play in brain information processing, remains unknown. The project plans to develop new methods for processing large-scale neural data, and to apply these methods to learn about propagating neural waves. These results may improve our understanding of how neural circuits function, eventually leading to clinical and technological advances.Read moreRead less