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.
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.
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
Emerging Severe Mental Illness In Young People: Clinical Staging, Neurobiology, Prediction & Intervention From Vulnerabi
Funder
National Health and Medical Research Council
Funding Amount
$6,229,421.00
Summary
Mental disorders, such as psychotic and severe mood disorders, are the largest cause of disability in Australia. However, there is still little known about illness onset, relapse and progression. We have developed a clinical staging model with transition points from symptomfree to subthreshold status, to threshold disorder to chronic disability. We will investigate neurobiological and psychosocial factors which increase the risk of progression through these stages and use this model as a basis f ....Mental disorders, such as psychotic and severe mood disorders, are the largest cause of disability in Australia. However, there is still little known about illness onset, relapse and progression. We have developed a clinical staging model with transition points from symptomfree to subthreshold status, to threshold disorder to chronic disability. We will investigate neurobiological and psychosocial factors which increase the risk of progression through these stages and use this model as a basis for examining the effectiveness of interventions, for example to prevent, delay or ameliorate onset and relapse, and promote vocational recovery. Thus major clinical and public health benefits and an understanding of factors that contribute to the onset and progression of illness will result.Read moreRead less
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.
Clinical Genetic Phenotyping Of Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$582,114.00
Summary
Individuals with autism spectrum disorders (ASD) have difficulty with communication, social interaction and intellectual disability. The cause is generally not known although most cases have a genetic basis involving multiple genes and possibly environmental factors. We will study families of children with ASD and carefully characterize features related to ASD in family members. This will help us to understand how ASD is inherited and serve as the basis for the discovery of autism genes.
Cellular Mechanisms Controlling Neural Crest Cell Migration Along The Developing Gut
Funder
National Health and Medical Research Council
Funding Amount
$368,895.00
Summary
Within the wall of the gut, there are a large number of neurons, probably more than are in the spinal cord. These enteric neurons play an essential role in controlling a number of gut functions including peristalsis (the propulsion of contents along the gut). Most of the neurons in the gut, including those in the large intestine, arise from precursors that emigrate from the hindbrain, and then migrate into and along the gastrointestinal tract during development. The colonization of the gut by ne ....Within the wall of the gut, there are a large number of neurons, probably more than are in the spinal cord. These enteric neurons play an essential role in controlling a number of gut functions including peristalsis (the propulsion of contents along the gut). Most of the neurons in the gut, including those in the large intestine, arise from precursors that emigrate from the hindbrain, and then migrate into and along the gastrointestinal tract during development. The colonization of the gut by neuron precursors takes 5 days in mice and 6 weeks in humans. Studies of the mechanisms controlling the migration of neuron precursors along the gut have provided fundamental information about cell migration in general. Genetic studies in humans and mice have identified some of the genes that are necessary for the migration of neuron precursors along the gastrointestinal tract, but for some of the key genes, their precise role is unknown. We have recently developed a method for imaging living neuron precursors migrating through explants of embryonic mouse gut. In the current proposal we will meld imaging and genetic studies to understand how mutations in particular genes lead to migration defects. In particular, how do particular mutations affect the migratory behaviour of enteric neural precursors? We have also previously shown that neuron precursors migrate along the gut in close association with axons. We will examine the nature of these interactions - in particular, who is following whom, and what happens when cell migration and axon growth are uncoupled? These studies, which will investigate a number of critical aspects of the migration of neural precursors into and along the developing gut, are central to understanding how the enteric nervous system is established along the gastrointestinal tract.Read moreRead less