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.
An Integrated “omic” Approach To Neurodevelopmental Disorders Using Disease-discordant Monozygotic Twins
Funder
National Health and Medical Research Council
Funding Amount
$84,800.00
Summary
This project targets neurodevelopment disorders such as autism spectrum disorder, cerebral palsy and epilepsy and focuses on studying the environmental factors (epigenetics) affecting the disease mechanisms in these disorders. The study will be performed on twin samples and will help in the diagnosis of the disease risk at an earlier stage. It will also help to understand the causes of these important neurological diseases.
Tuberous Sclerosis And Epilepsy: Using Resected Tissue To Understand Pathogenesis And Inform Management
Funder
National Health and Medical Research Council
Funding Amount
$339,261.00
Summary
Epilepsy is the commonest neurological disorder in childhood and seizures cannot be fully controlled by medications in 30%, often leading to developmental consequences. A major cause of drug-resistant epilepsy is a malformation of the brain’s surface. Surgery is sometimes used to remove these lesions to treat the epilepsy. We will study this tissue to understand its architecture, genetic basis and how it causes seizures. Our results will guide treatment including the best surgical approach.
Delayed Radial Glial Maturation Linked To NFI Deficiency As An Underlying Cause Of Cortical Defects In Humans And Mice
Funder
National Health and Medical Research Council
Funding Amount
$801,979.00
Summary
The timely generation of neurons and glia is important for brain development and consequently brain function throughout life. Nuclear factor I (NFI) genes are important for regulating the production of neurons and glia, and people with disrupted NFI genes have severe cognitive and motor deficits. Using human genetic data and mouse models, we will analyse how disrupting these genes affects brain development, and changes the overall structure and wiring of the cerebral cortex as well as behaviour.
Identifying The Neural Signature Of Persistent Pain
Funder
National Health and Medical Research Council
Funding Amount
$547,094.00
Summary
Chronic pain affects over 20% of Australians. Despite its high prevalence, it is relativly resistant to current treatment regimes and part of the reason behind our inadequate ability to provide satisfactory pain relief is due to our limited understanding of the pathophysiology that underlies this condition. This proposal will develop a novel understanding of the central neuroplastic changes associated with chronic pain and the role that these changes play in the maintenance of these conditions.
The mammalian cerebral cortex is an area of the brain responsible for all higher order cognitive processes. I investigate how connections from between the two cerebral hemispheres during embryonic and foetal development, thus enabling the brain to coordinate information from the two sides of the body. Malformations of these connections cause mental retardation and sensory and motor deficits. I want to understand how these brain defects occur and how best to treat them.
Investigating Secondary Effects Of BACE1 Inhibition, A Promising Therapy For Alzheimer's Disease
Funder
National Health and Medical Research Council
Funding Amount
$700,672.00
Summary
Synapses transfer information between neurons in the brain. In Alzheimer’s disease (AD), synapse loss results in dementia therefore it is imperative that any potential therapeutic drugs do not inadvertently cause further synapse loss. Drugs aimed at blocking production of toxic protein fragments in AD might have adverse secondary effects on synapse development and function. This research will determine whether this is the case and inform new therapeutic approaches aimed at minimizing side effect ....Synapses transfer information between neurons in the brain. In Alzheimer’s disease (AD), synapse loss results in dementia therefore it is imperative that any potential therapeutic drugs do not inadvertently cause further synapse loss. Drugs aimed at blocking production of toxic protein fragments in AD might have adverse secondary effects on synapse development and function. This research will determine whether this is the case and inform new therapeutic approaches aimed at minimizing side effects.Read moreRead less
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.
Understanding Neurodevelopment In Preterm Children Utilising MRI
Funder
National Health and Medical Research Council
Funding Amount
$302,123.00
Summary
Children born very preterm are more likely to have movement, learning and behavioural difficulties resulting from abnormal brain development or injury around the time of birth. This project will help identify common brain alterations in preterm children using MRI, as well as the causes and consequences of such abnormalities. Ideally, this research will help health professionals to prevent abnormalities and injury, or to intervene early to reduce the adverse effects of prematurity.
Properties And Functions Of Reactive Astrocytes And Their Role In Neurological Disease
Funder
National Health and Medical Research Council
Funding Amount
$344,652.00
Summary
I am a developmental neuroscientist interested in the way alterations to normal brain development affect neuronal function later in life. I intend to investigate this by studying astrocytes – the cells that support and nourish brain nerve cells. In some diseases these astrocytes become stressed and instead of aiding the brain, set about destroying it. A better understanding of their action during development and disease may enable improved interventions for the treatment of many brain disorders.