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.
Reducing Morbidities In Preterm Growth Restricted Neonates.
Funder
National Health and Medical Research Council
Funding Amount
$687,214.00
Summary
Intrauterine growth restriction (IUGR) is a serious complication of pregnancy and occurs when fetal growth is abnormal, resulting in a fetus that is smaller than it should be for its given gestational age. IUGR babies are at much greater risk of many short and long-term adverse outcomes. This study investigates the role that adverse cardiovascular development plays in the progression of lung, heart and brain disease in preterm IUGR newborns.
The Role Of The Zinc Finger Transcriptional Repressor Znf238 During Nerve Cell Maturation
Funder
National Health and Medical Research Council
Funding Amount
$394,264.00
Summary
Proper foetal brain assembly is critical for brain function, but the underlying genetic mechanisms remain poorly defined. In this study, I will investigate a family of proteins that “turn on” neural gene expression in combination with another protein that “turns off” their expression during nerve cell development. Understanding this novel on/off mechanism for controlling gene expression in newborn nerve cells will further our understanding of how the brain is assembled.
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.
Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
Quantifying The Role Of Epigenetic Factors In Neurocognitive Outcomes: A Twin Study
Funder
National Health and Medical Research Council
Funding Amount
$1,516,790.00
Summary
We aim to identify the environmental factors in early life that contribute towards an individual brain development using MRI brain scans and related psychological skills measured in late childhood. We are using twins to better understand differences in their early life environments independent of genetics.
Targeting Tau Phosphorylation To Treat And Prevent Acquired Epilepsy, Neurodegeneration And Neuropsychiatric Disease Following A Brain Injury
Funder
National Health and Medical Research Council
Funding Amount
$524,820.00
Summary
This project will explore a new approach to the prevention and treatment of epilepsy and the associated mental health disorders following a brain injury. This involves inhibiting pathological forms of the Tau protein, which has been implicated in the development of epilepsy and neurodegeneration. The drug that will be tested in this study has already been demonstrated to be safe and well tolerated in humans, meaning that a positive result from these studies could be expediently translated into c ....This project will explore a new approach to the prevention and treatment of epilepsy and the associated mental health disorders following a brain injury. This involves inhibiting pathological forms of the Tau protein, which has been implicated in the development of epilepsy and neurodegeneration. The drug that will be tested in this study has already been demonstrated to be safe and well tolerated in humans, meaning that a positive result from these studies could be expediently translated into clinical studies.Read moreRead less
A Multi-cohort Investigation Of The Effects Of BDNF Val66Met On Tau, Neurodegeneration And Cognition In Preclinical Alzheimer’s Disease
Funder
National Health and Medical Research Council
Funding Amount
$325,758.00
Summary
There are currently no disease modifying therapies for Alzheimer’s disease. We will elucidate the role of a genetic polymorphism that has previously been shown to exert neuroprotective effects on memory decline and brain volume loss associated with Alzheimer’s disease. By studying the role of this gene in multiple cohorts of individuals with varying degrees of Alzheimer’s disease risk, this study has high potential to uncover novel disease-modifying strategies for the treatment of the disease.
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.
Enhancing Rehabilitation Services For Aboriginal Australians After Brain Injury: Healing Right Way
Funder
National Health and Medical Research Council
Funding Amount
$906,445.00
Summary
This project involves implementation of the first culturally secure intervention package for Aboriginal survivors of brain impairment in Australia. Stroke and traumatic brain injury occur significantly more frequently in Aboriginal populations, yet Aboriginal people are under-represented in rehabilitation programs. The project will improve accessibility to rehabilitation, improve health outcomes, and establish an economic model contributing to sustainability and planning of future services.