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Characterisation Of Eurl, A Novel Gene Implicated In The Etiology Of Abnormal Brain Development And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$597,541.00
Summary
Intellectual disability affects around one per cent of Australians, and can arise from genetic abnormalities during fetal life, such as through abnormal regulation of gene expression. We have identified a novel gene, known as eurl, which controls brain assembly as well as the ability of neurons to form functional connections within the brain. We will investigate how this novel gene controls brain development, and characterise eurl as a potential therapeutic target for learning and memory.
Developing New Therapeutic Strategies For Brain Cancer
Funder
National Health and Medical Research Council
Funding Amount
$763,845.00
Summary
Each year, over 1,500 Australians will develop brain cancer. Unlike many cancers, it cannot be prevented by lifestyle changes. Adults with brain cancer usually die within 2 years. The overall aims of this funding are to extend patients' lives and build brain cancer research in Australia so that we have the best chance of curing this disease. The expected outcome is clinical trial of drug candidates for the most common and most deadly brain cancer, high-grade glioma.
Normal And Abnormal Development Of Brain Wiring And Its Impact On Brain Function
Funder
National Health and Medical Research Council
Funding Amount
$763,845.00
Summary
My laboratory is striving to understand how the patterns of neuronal connections form in the developing brain and how these underpin the functions of the brain throughout life. We use high-field magnetic resonance imaging to measure brain wiring and we investigate the genetic and environmental mechanisms causing developmental brain disorders that result in intellectual disability, autism, epilepsy and some mental illnesses.
The Role Of Rnd Genes During Cortical Neurogenesis And Cell Migration
Funder
National Health and Medical Research Council
Funding Amount
$410,384.00
Summary
In order for the brain to function properly, tens of billions of neurons within it first have to be born, then find their proper location before connecting with other neurons in a highly ordered fashion. Failure of these key processes heavily impacts on subsequent brain function, and have been shown to underlie several disorders including epilepsy. This study will investigate how members of the Rnd gene family control cell production and positioning within the developing brain.
Uncovering The Neural Mechanisms Of Obsessive-compulsive Disorder Using Brain Modelling
Funder
National Health and Medical Research Council
Funding Amount
$581,628.00
Summary
Obsessive-compulsive disorder (OCD) is an incurable mental illness and current therapies only mitigate its symptoms for a portion of individuals. Thus, there is a need to identify the neural causes of OCD to develop personalised therapies. We will combine mathematical modelling, computer simulations, and clinical and neuroimaging data to develop the first model of OCD. Outcomes from this study will enable targeted OCD research and the discovery of brain mechanisms supporting treatment response.
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.
Neurobiology Of Childhood Speech Disorders: Improving Detection, Diagnosis And Clinical Care
Funder
National Health and Medical Research Council
Funding Amount
$994,575.00
Summary
One in 20 children have a speech disorder at school entry, with lifelong deficits in psychosocial, academic and employment outcomes. Little is known about the aetiology of speech disorders, preventing targeted care. We combine expertise in speech pathology, gene discovery and brain imaging, to advance knowledge on gene and brain contributions to speech disorder. We will have direct impacts on clinical care including detection, diagnosis and counselling, optimising outcomes for affected children.
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.
Investigating The Molecular Signature Of ASD Through Integrative Genomics
Funder
National Health and Medical Research Council
Funding Amount
$621,128.00
Summary
Autism is the most severe end of a spectrum of neurodevelopmental conditions, autism spectrum disorders (ASD). We have identified a signature of genes dysregulated in the brain of autistic individuals. The proposed project will investigate how the molecular signature of autism is regulated in the brain, and whether genetic variants in regulatory DNA contribute to the genetic architecture of ASD.
Mechanisms Guiding Pathfinding And Positioning Of Cortical Interneurons
Funder
National Health and Medical Research Council
Funding Amount
$621,606.00
Summary
Brain disorders place an economic and social burden on Australia and the personal costs of these illnesses are immeasurable. Several brain abnormalities are caused from the failure of neurons to position themselves in the correct location when the brain develops. Our study aims to discover how neurons move and what factors influence this process. It provides an understanding of normal brain development, as well as providing insight into what may go wrong in the formation of brain diseases.