Tuberous Sclerosis And Epilepsy: Using Resected Tissue To Understand Pathogenesis And Inform Management
Funder
National Health and Medical Research Council
Funding Amount
$339,261.00
Summary
Epilepsy is the commonest neurological disorder in childhood and seizures cannot be fully controlled by medications in 30%, often leading to developmental consequences. A major cause of drug-resistant epilepsy is a malformation of the brain’s surface. Surgery is sometimes used to remove these lesions to treat the epilepsy. We will study this tissue to understand its architecture, genetic basis and how it causes seizures. Our results will guide treatment including the best surgical approach.
Identifying The Neural Signature Of Persistent Pain
Funder
National Health and Medical Research Council
Funding Amount
$547,094.00
Summary
Chronic pain affects over 20% of Australians. Despite its high prevalence, it is relativly resistant to current treatment regimes and part of the reason behind our inadequate ability to provide satisfactory pain relief is due to our limited understanding of the pathophysiology that underlies this condition. This proposal will develop a novel understanding of the central neuroplastic changes associated with chronic pain and the role that these changes play in the maintenance of these conditions.
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.
A Phase I Study Of The First In Class Dual IMiD/bromodomain Inhibitor N-methyl-2-pyrrolidone (NMP) In Relapsed And Refractory Multiple Myeloma.
Funder
National Health and Medical Research Council
Funding Amount
$551,061.00
Summary
We have newly discovered that a simple molecule called NMP has the ability to control myeloma cells that have become resistant to other available treatments. NMP works by enhancing immune function and by killing myeloma cells directly by inhibiting survival signals. NMP is different from all other types of available myeloma treatments. We intend to test the safety and power of NMP in the treatment of myeloma by running a clinical trial of NMP in patients with relapsed myeloma.
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
Mechanisms Of PTEN Regulation By Ndfip1 And Their Biological Consequences For Neuron Survival During Brain Injury
Funder
National Health and Medical Research Council
Funding Amount
$686,640.00
Summary
We have discovered a new protein (Ndfip1) that protects brain cells from death after brain injury from trauma and stroke. We will investigate why this protein is activated only in some, but not in other, brain cells after injury. In this application, we will study the mechanisms behind neuron protection, and use this information to explore how to increase the number of brain cells activating Ndfip1.
Prenatal Origins And Health Outcomes Of Male Reproductive Congenital Anomalies Diagnosed At Birth And Testicular Cancer In Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$234,343.00
Summary
There is growing concern in increasing male reproductive congenital anomalies diagnosed at birth & testicular cancer in adulthood. Research suggests these conditions share a common origin due to disruption in the release of male hormones in early pregnancy. This study will use a novel method of record-linkage to investigate maternal and infant risk factors and their combined effect on male reproductive disorders at birth and later in life; & assess long-term health and fertility of these males.
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.
Being Born Small Is Not Good For The Heart:early Detection Of Cardiovascular Risk
Funder
National Health and Medical Research Council
Funding Amount
$486,757.00
Summary
Intra uterine growth restriction(IUGR) is linked to adult onset of cardiovascular disease. However, little is known about the mechanism(s) which underlie this link or which babies are most at risk. This study aims to assess cardiovascular function in infants and children who were growth restricted. Early identification of cardiovascular dysfunction may aid in new opportunities for monitoring and therapeutic targets to ultimately reduce later onset of cardiovascular morbidity in this population.