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
Epigenetic Regulation Of Male Fetal Germ Cell Development.
Funder
National Health and Medical Research Council
Funding Amount
$562,176.00
Summary
Men’s health has declined over recent decades, but the causes remain unknown. Non-genetic (epigenetic) mechanisms affecting formation and function of the male germ cells (which produce sperm) may play an important role. We will determine the role of a key epigenetic modifier on the formation and function of male germ cells, including germ cell tumours. This study will provide fundamental insights into male germ cell epigenetics, and significantly contribute to understanding men's health.
Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
Determining The Impact Of Inherited Epigenetic Information On Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$511,691.00
Summary
Recent observations show that the environment in which you live can alter disease susceptibility in your children, without altering the sequence of your genes. This is due to epigenetic mechanisms which control the way the DNA is interpreted. In this study we will study the potential for epigenetic mechanisms to affect sperm production and impact characteristics and disease in the next generation.
The Role Of Myo18b In Myopathies And Sarcomere Assembly
Funder
National Health and Medical Research Council
Funding Amount
$860,776.00
Summary
Muscle force is provided by a specific structure within the muscle cell termed the sarcomere. Sarcomeres are the engine-room of muscle cells, that act as complex cellular machines to controls muscle contraction. Many muscle degenerative disorders are caused by defects within the sarcomeres, but how this occurs is not well understood. This grant examines how one such muscle waiting disease, or myopathy, results from mutations in a gene encoding a component of the sarcomere called Myo18b.
Defining The Impact Of Universal Iron Interventions In Young Children: A Randomized Controlled Trial In Rural Bangladesh
Funder
National Health and Medical Research Council
Funding Amount
$2,794,373.00
Summary
Although nearly half of the world's young children are anaemic, evidence regarding the best approaches to correct this problem are limited. New data even suggests that the conventional approaches (iron supplements, multiple micronutrient powders) may even be harmful. We will perform the definitive trial which will confirm the existence and magnitude of any benefit (and harm) from these interventions in young Bangladeshi children. This trial will inform global policy on anaemia control.
The Burden Of Late Preterm Birth On Brain Development And 2 Year Outcomes – A Prospective, Longitudinal Cohort Study
Funder
National Health and Medical Research Council
Funding Amount
$838,690.00
Summary
80% of preterm babies are born from 32-36 weeks’ gestation, and are late preterm (LPT). LPT children have more learning problems, but why this occurs is unknown. This study aims to understand the effect of LPT birth on brain development. We will do brain scans at term and assess development at 2 years of age of 200 LPT and 200 full-term children. We expect LPT babies will have subtle alterations in brain development compared with term controls which will be associated with delayed development.
Motor problems, ranging from clumsiness to cerebral palsy, are one of the most common adverse outcomes in children born early. This study will investigate the motor development of children born <30 weeks’ gestation compared with peers born at term from birth to 5 years. We will determine whether early clinical evaluations or neuroimaging in the newborn period can predict later motor impairment at 5 years to be able to identify those who will benefit most from early intervention.