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.
This study investigates how much an individual's genes and environment account for the wide variation in brain structure and function. Using brain imaging we examine in what way the connectivity of the brain of identical and non-identical twins is the same or different from that of their co-twin, and carry out analysis of their DNA to identify some of the genes involved. This will provide fundamental information on genetic mechanisms influencing variation in brain structure and function.
A Prospective Study Of Language Impairment And Recovery Following Surgery For Brain Tumours
Funder
National Health and Medical Research Council
Funding Amount
$861,342.00
Summary
This multi-site project will investigate the incidence and nature of post-operative language difficulties (aphasia) in patients following surgery for left hemisphere primary brain tumours. It will provide comprehensive data concerning risk factors for post-surgical aphasia in Australian patients, in addition to important information about the brain lesions responsible for its various clinical presentations. This information will be used to generate recommendations for clinical practice.
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.
Post-GWAS Functional Characterisation Of Breast Cancer Susceptibility Loci
Funder
National Health and Medical Research Council
Funding Amount
$764,632.00
Summary
Recent studies have identified regions within the human genome in which DNA sequence variations are associated with an increased risk of breast cancer. Several of these regions do not contain any known genes, suggesting that regulatory DNA sequences are responsible for the associated risk. The aim of this proposal is to identify and characterise these DNA sequences. Understanding how sequences variations in these regions contribute to breast cancer will provide novel avenues for therapy.
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.
Dopamine Neuron Ontogeny: Convergent Neurobiological Pathway For Risk Factors Of Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$337,214.00
Summary
Schizophrenia is associated with changes in dopamine (a signalling molecule in the brain). These changes are present prior to psychosis, suggesting they begin early in development. Our aims are to manipulate key factors in the development of brain dopamine systems to clarify their role in psychosis and schizophrenia. This work has the potential to identify early brain changes that lead to schizophrenia, which in turn may generate better diagnoses and outcomes for people with this disorder.
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.