Controlling The Development And Function Of Hindbrain Commissures In Vertebrate Animals: The Role Of Robo3 Receptor
Funder
National Health and Medical Research Council
Funding Amount
$393,834.00
Summary
Commissural axons connect and coordinate activity between neurons of the left and right sides of the central nervous system. In the forebrain, formation of commissural axons is determined by guidance factors at the midline between the two hemispheres, and abnormalities in guidance can cause developmental malformations. The aims of this project are to elucidate function of the Robo/Slit family of molecules in regulating axon guidance of commissural neurons, particularly in the corpus callosum.
The Incidence And Genetics Of The Infantile Epileptic Encephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$175,224.00
Summary
Severe epilepsies with frequent seizures and cognitive impairments in the first 18 months of life are known as ‘infantile epileptic encephalopathies’ (IEE). The cause of IEE is unknown in many patients, although presumed genetic. This study of patients with IEE in Victoria aims to describe the incidence of IEE, and understand the genetic causes of IEE. Understanding the causes of IEE will be the first step towards development of urgently-needed novel therapies for these devastating conditions.
Defining The Role Of Inflammation In Depression During Aging
Funder
National Health and Medical Research Council
Funding Amount
$736,820.00
Summary
This proposed research investigates the bidirectional relationship between inflammation in the central nervous system (CNS) and depression during normal aging processes. It is assumed that inflammatory processes in the CNS will induce the development of depression and vice versa, that depression will lead to increased inflammation in the body. In addition, the research will study the genetic background and gene expression of inflammation contributing to both aging processes and the onset of depr ....This proposed research investigates the bidirectional relationship between inflammation in the central nervous system (CNS) and depression during normal aging processes. It is assumed that inflammatory processes in the CNS will induce the development of depression and vice versa, that depression will lead to increased inflammation in the body. In addition, the research will study the genetic background and gene expression of inflammation contributing to both aging processes and the onset of depression during aging.Read moreRead less
What Predicts The Progressive Phase Of Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$1,791,343.00
Summary
We have made major gains in our understanding of what causes MS. What has proven to be far more difficult is understanding the drivers of disability progression and conversion to progressive MS. The onset of progression heralds the accumulation of irreversible disability and is a critical time point to a person with MS. This grant aims to determine the lifestyle, environmental, genetic and epigenetic drivers of MS progression, using an internationally unique Australian MS longitudinal cohort.
Neurexin And Neuroligin: A Code For Synaptic Development
Funder
National Health and Medical Research Council
Funding Amount
$349,590.00
Summary
As soon as we are born, we interpret our world through our senses, learn new information and lay down memory. These processes require molecules that connect neurons together. Mutations in genes encoding these molecules result in incorrect wiring of the brain and lead to mental disorders such as autism and schizophrenia. Using simple insect models, our project aims to unravel the fundamental mechanisms of how these molecules function in the brain and how their interaction controls behaviour.
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.
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
TorsinA Mediated Dystonia, Functional Analysis And Molecular Models
Funder
National Health and Medical Research Council
Funding Amount
$479,817.00
Summary
The dystonias represent a group of movement disorders characterised by sustained muscle contraction, resulting in twisting and abnormal postures. Current treatment regimes may provide some measure of symptomatic relief, but are often unsatisfactory and limited by adverse side effects. The prevalence of dystonia is estimated at approximately 300 cases per million population. Dystonia is a complex disorder, the causes and disease mechanisms are not well understood. However, in the past 10 years se ....The dystonias represent a group of movement disorders characterised by sustained muscle contraction, resulting in twisting and abnormal postures. Current treatment regimes may provide some measure of symptomatic relief, but are often unsatisfactory and limited by adverse side effects. The prevalence of dystonia is estimated at approximately 300 cases per million population. Dystonia is a complex disorder, the causes and disease mechanisms are not well understood. However, in the past 10 years several genes have been identified that can cause dystonia. The overall aim of this proposal is to characterise a gene that causes dystonia when disrupted. Understanding the function of this gene may significantly advance our understanding of this disorder. Using these results, we aim to model dystonia in cellular and animal systems; these may provide powerful insight into the molecular pathway(s) perturbed in dystonia and a means to develop novel therapeutic approaches to alleviate or prevent the disorder.Read 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.
Human Epilepsy: Understanding Biology To Improve Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$16,657,948.00
Summary
Our team of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discovery of the genetic causes of epilepsy. Through this work we will identify genes underlying epilepsy and study how genetic variations result in the development of seizures. Advanced brain imaging will be used to understand the effects of genetic variation on brain structure and function. This study may lead to new diagnostic methods and treatments for epilepsy.