Neurodevelopmental Role Of Susceptibility Genes For Autism Spectrum Disorders: From Genes To Behaviour
Funder
National Health and Medical Research Council
Funding Amount
$482,968.00
Summary
Autism is a developmental neuropsychiatric syndrome characterised by impairments in three principal domains: social interaction, language and behavioural inflexibility. Autism spectrum disorder (ASD) refers to a group of neurodevelopmental syndromes with the common feature of dysfunctional reciprocal social interaction. In this project we will investigate the role of genes that increase the risk of ASD in the development of behaviours using an animal model. This work will lead to a better unders ....Autism is a developmental neuropsychiatric syndrome characterised by impairments in three principal domains: social interaction, language and behavioural inflexibility. Autism spectrum disorder (ASD) refers to a group of neurodevelopmental syndromes with the common feature of dysfunctional reciprocal social interaction. In this project we will investigate the role of genes that increase the risk of ASD in the development of behaviours using an animal model. This work will lead to a better understanding of the genetic basis of ASD.Read moreRead less
Development of normal brain function requires information transfer and integration from outside and within the brain. Normal brain wiring is guided by genetic and environmental cues, whose relative contributions remain controversial. This project investigates the physiological and behavioural consequences of abnormal brain wiring, and the potential for controlled environments and targeted interventions to overcome the deficits. Relevance includes neurotrauma as well as mental illnesses.
Prof Alan Connelly is an internationally recognised neuroimaging researcher specialising in MRI. His major areas of research are in the development of new methods to acquire and process MR images of both structural and functional aspects of the brain, and the application of these novel methods to clinical neuroscience problems. His work has had a major impact in the field of epilepsy, where techniques that he pioneered have been widely adopted in specialist epilepsy centres worldwide.
Pain has a detrimental impact on ones quality of life and a significant financial impact on the community. It has recently been revealed that chronic pain is associated with altered brain anatomy and function. Using human brain imaging, we aim to determine the underlying reason for these changes by following individuals during the development of pain. Defining the mechanism underlying pain will aid in the development of better treatment regimens.
Control Of Prosthetic Limbs From Decoded Brain Signals
Funder
National Health and Medical Research Council
Funding Amount
$895,832.00
Summary
This research will restore mobility to patients who suffer from paralysis. We aim to create a device, known as a brain-machine interface, which is an artificial communication path from the brain that bypasses an injury, such as a damaged spinal cord or stroke. The interface will decode a user’s intent and act upon it. Decoders will use physiological principals and state-of-the-art machine learning methods. We will test a user’s ability to control an artificial limb using decoded brain activity.
Advancing The Evidence-base For Childhood Brain Insult: Diagnosis, Assessment And Intervention
Funder
National Health and Medical Research Council
Funding Amount
$575,662.00
Summary
My research has 4 primary objectives, representing major gaps in current knowledge: 1. improve knowledge of recovery and determinants of post-concussive symptoms 2. establish the impact of child brain insult on socio-emotional function and identify contributing factors 3. develop an iPad based tool for socio-emotional function 4. evaluate and disseminate e-heath treatments for child brain insult
Novel Methods To Study Structural-functional Connectivity In Epilepsy And Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$697,605.00
Summary
Magnetic Resonance Imaging (MRI) is a non-invasive method that has revolutionised our understanding of clinical neuroscience. MRI provides not only high-contrast anatomical images, but also information on brain physiology and function. My primary goal is to develop and optimise novel MRI methods for a more accurate measure of brain structure and function. My research program will focus on the application of these methods to the investigation of epilepsy and schizophrenia.
High-resolution Brain Imaging Of Basal Ganglia Function
Funder
National Health and Medical Research Council
Funding Amount
$589,083.00
Summary
This project will develop new methods for high resolution MRI imaging of the human brain. We will assess functions of deep brain areas known as the basal ganglia that play a critical role in movement planning and co-ordination. Dysfunction within the basal ganglia is responsible for the motor impairments seen in people with Parkinson’s disease. In this project, we will examine changes in basal ganglia function and structure that lead to individual differences in movement control and learning.
The Role Of The Gtf2i Gene Family In Behaviour And Williams Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$629,396.00
Summary
Williams Syndrome (WS) is a complex neurodevelopmental disorder in humans caused by a deletion of 21 genes on chromosome 7. This results in a reduced IQ and marked visuospatial deficiencies. However, unlike other forms of mental retardation, some important cognitive abilities are completely normal. WS patients show normal development of linguistic abilities and anecdotal evidence suggests they possess an above average musical ability. In addition, these individuals also possess a characteristic ....Williams Syndrome (WS) is a complex neurodevelopmental disorder in humans caused by a deletion of 21 genes on chromosome 7. This results in a reduced IQ and marked visuospatial deficiencies. However, unlike other forms of mental retardation, some important cognitive abilities are completely normal. WS patients show normal development of linguistic abilities and anecdotal evidence suggests they possess an above average musical ability. In addition, these individuals also possess a characteristic overfriendly, gregarious personality with little inhibition towards strangers. Such a characteristic cognitive and behavioral profile in a genetic disorder has provided convincing evidence that genes play a role in specifying cognitive abilities and behavior. This interesting syndrome gives us an insight into the perplexing debate of Nature vs Nurture. It also provides a unique and invaluable opportunity to dissect the role of certain genes in complex neurodevelopmental pathways that result in cognition and behavior. Recently, patients with smaller (atypical) deletions of genes in the WS region have been described. These patients do not display the full 'classical' range of WS characteristics. The identification of which genes are deleted in these patients suggests that two genes in particular, GTF2IRD1 and GTF2I, are involved in visuospatial abilities, sociability and specific anxieties and phobias. Our laboratory was the first to identify proteins encoded by GTF2IRD1, known as MusTRDs, that act for the most part to suppress gene expression. Furthermore, our laboratory has been studying a mouse model in which the Gtf2ird1 gene has been deleted, similar to the situation in WS, and have found that the mice are more 'social' and exploratory. In this project, we want to determine if other behavioural features of WS are contributed to by this gene and-or its related gene, Gtf2i, and to characterize the role that these genes play in neuronal cell function.Read moreRead less
Mechanisms And Consequences Of Cholinergic Signaling In Neocortical Pyramidal Neurons
Funder
National Health and Medical Research Council
Funding Amount
$258,000.00
Summary
Dementia, including Alzheimer s Disease, represents the second highest non-fatal disease burden in Australia. Modern theories suggest that cognitive deficits associated with disorders such as Alzheimer s Disease result in part from impairment of the action of the neurotransmitter acetylcholine. Despite the obvious importance of acetylcholine in brain function, there is currently a lack of basic knowledge regarding how this chemical works at the cellular level. We have recently discovered that ac ....Dementia, including Alzheimer s Disease, represents the second highest non-fatal disease burden in Australia. Modern theories suggest that cognitive deficits associated with disorders such as Alzheimer s Disease result in part from impairment of the action of the neurotransmitter acetylcholine. Despite the obvious importance of acetylcholine in brain function, there is currently a lack of basic knowledge regarding how this chemical works at the cellular level. We have recently discovered that acetylcholine produces opposing phasic and tonic actions on the excitability of brain cells in the cortex. The data collected in this study will reveal the receptor type, intracellular signalling pathways, and ionic mechanisms through which acetylcholine influences information processing in the brain. Together, these results will provide a framework for understanding the biological basis by which acetylcholine influences cognitive function. This new knowledge will in turn increase our understanding of why dysfunction of this important neurotransmitter system leads to the functional deficits observed in Alzheimer s Disease and other forms of dementia, and will hopefully suggest new targets for therapeutic intervention.Read moreRead less