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Long-term Surgical And Socioeconomic Outcomes Following Aortopulmonary Septal Defect Repair In Children
Funder
National Health and Medical Research Council
Funding Amount
$89,197.00
Summary
About 2% of heart defects are due to communication between the 2 main arteries exiting the heart (truncus arteriosus and aortopulmonary window). If untreated, up to 30% of children die in the first year of life. With surgery many patients are now surviving into adulthood. The long-term outcomes are unknown. This study will review all patients with this defect across Australian and New Zealand. Results from this study will allow us to best manage these patients in the short and long-term.
Identifying The Genetic And Environmental Causes Of Congenital Malformation
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
Birth defects are common, devastating and costly to families and to society. The cause is unknown in 80% of cases. This research is helping families by finding the gene mutations that cause birth defects. Gene discoveries, in some cases, will highlight environmental factors that are important for normal embryo formation, such as oxygen levels and dietary components. By identifying gene and environmental factors associated with causing birth defects, we hope to ameliorate or prevent many cases.
THE ROLES OF CYTOSKELETAL PROTEINS IN SKELETAL MUSCLE FUNCTION AND DISEASE
Funder
National Health and Medical Research Council
Funding Amount
$466,650.00
Summary
Congenital myopathies are inherited diseases of skeletal muscle that typically present at birth or in early chilhood and are characterised by poor muscle tone and muscle weakness. This group of disorders includes nemaline myopathy, central core disease, congenital fiber type disproportion, and myotubular myopathy. All of these disorders are characterised by disorganisation of the sarcomere, the major structure within skeletal muscle cells that is involved in contraction. In nemaline myopathy pat ....Congenital myopathies are inherited diseases of skeletal muscle that typically present at birth or in early chilhood and are characterised by poor muscle tone and muscle weakness. This group of disorders includes nemaline myopathy, central core disease, congenital fiber type disproportion, and myotubular myopathy. All of these disorders are characterised by disorganisation of the sarcomere, the major structure within skeletal muscle cells that is involved in contraction. In nemaline myopathy patients, mutations have been found in five genes that encode proteins of the filamentous systems of the sarcomere. Therefore, the genes for other thin filament, thick filament and Z-line proteins are excellent candidates for these disorders. Research from our lab has identified a novel region of the sarcomere and the genes encoding the proteins present in this region provide additional candidates for the congenital myopathies. We will further characterise the proteins in this novel structure to determine its function and the role that it plays in muscle disease pathologies. In order to study the relationship between disease pathology and muscle weakness in nemaline myopathy, we generated a mouse model by expressing a mutant protein, a-tropomyosin slow, found in human patients in mice. All features of the disease found in humans are present in the mice. A key feature of this disease in mice is the ability for muscle cells to grow in diameter or hypertrophy to offset the muscle weakness. We will use these mice to trial therapies including hypertropy-inducing agents, to prevent and reverse muscle weakness. In addition, we will generate an additional mouse model for this disease with a mutation in a gene encoding another filamentous protein. A comparison of the two models using microarray analysis will help us identify additional genes that are being affected in this disease and to generate a molecular expression profile that will aid in the diagnosis of this disease.Read moreRead less
Novel Multi-Modality Assessment Of Arrhythmic Risk And Disease Progression In Repaired Tetralogy Of Fallot Undergoing Redo-Pulmonary Valve Surgery Using 4D Cardiac MRI Flow And High Density 3D Electro-Anatomical Mapping.
Funder
National Health and Medical Research Council
Funding Amount
$110,703.00
Summary
Sudden death from arrhythmia is the most common cause of death in adults with tetralogy of Fallot, a type of congenital heart disease. It has been shown that dangerous arrhythmias can be induced in almost half of these patients when severe pulmonary valve disease is present. Our study will evaluate the potential for arrhythmias both before and after pulmonary valve surgery, using MRI and electrophysiological testing, to determine if these patients require defibrillators.
Central Blood Pressure And Cardiovascular Risk In Children Within The General Population And After Repair Of Congenital Heart Disease
Funder
National Health and Medical Research Council
Funding Amount
$431,000.00
Summary
With an exceptional research standing internationally, and as the leader of a Cardiovascular Bioengineering team, I am developing a new method for assessing central blood pressure in children that will provide better information about early risk of cardiovascular disease than arm blood pressure. This will be applied (1) in a large health study of Australian children and (2) to identify risks and causes of adult-type cardiovascular disease in children with repaired congenital heart disease.
Surgical Management Of The Pulmonary Circulation In Children
Funder
National Health and Medical Research Council
Funding Amount
$114,328.00
Summary
Congenital disorders of the lung circulation are rare. These children often present during infancy with symptoms of heart failure and require surgery to correct these defects. Without surgery, the prognosis of these conditions are poor. Our understanding of these conditions are limited. The proposed study aims to review all patients who underwent surgical repair of abnormalities of lung arteries and veins at the Royal Children’s Hospital.
Novel Features And Mechanisms Of Congenital Myopathies
Funder
National Health and Medical Research Council
Funding Amount
$464,500.00
Summary
Congenital myopathies are inherited diseases of skeletal muscle that typically present at birth or in early childhood and are characterised by poor muscle tone and muscle weakness. This group of disorders includes nemaline myopathy, central core disease, congenital fiber type disproportion, and myotubular myopathy. All of these disorders are characterised by disorganisation of the sarcomere, the major structure within skeletal muscle cells that is involved in contraction. In addition, the congen ....Congenital myopathies are inherited diseases of skeletal muscle that typically present at birth or in early childhood and are characterised by poor muscle tone and muscle weakness. This group of disorders includes nemaline myopathy, central core disease, congenital fiber type disproportion, and myotubular myopathy. All of these disorders are characterised by disorganisation of the sarcomere, the major structure within skeletal muscle cells that is involved in contraction. In addition, the congenital myopathies have features in common with virtually all muscle diseases such as slow fibre predominance and alterations in contractile force. We are using nemaline myopathy as a representative congenital myopathy to examine features in common amongst the myopathies, characteristic of the congenital myopathies and specific to nemaline myopathy. In nemaline myopathy patients, mutations have been found in five genes that encode proteins of the filamentous systems of the sarcomere. A feature specific to nemaline myopathy is the presence of abnormal structures of the sarcomere called nemaline rods. We have analysed a large number of nemaline myopathy patients that have mutations in the genes that encode the filament proteins alpha-skeletal actin and tropomyosin. In addition, we have generated mouse models for nemaline myopathy and propose to generate an additional one with novel features. Our mouse model has revealed that a feature previously thought exclusive to dystrophies, is also present in nemaline myopathy. The combined analysis of well-characterised patient samples and mouse models will allow us to address longstanding questions about this particular congenital myopathy and myopathies in general. We will determine how rods form and their protein composition. Our mouse models in particular will allow us to address the molecular mechanisms that underpin the increase in slow twitch fibres and the effects that a particular mutation has on muscle function.Read moreRead less
Assessment And Prediction Of Blood Flow Dynamics In Congenital Aortic Abnormalities Using Image-based Computer Modelling And Wave Intensity Analysis
Funder
National Health and Medical Research Council
Funding Amount
$390,925.00
Summary
Severe aortic abnormality is a serious problem in many infants with congenital heart disease, but it is often unclear what type of treatment will optimise blood flow and minimise the risk of later complications. This study aims to harness recent developments in blood flow modelling, magnetic resonance imaging and advanced blood flow analysis techniques to determine the factors that lead to complications in these children, thereby providing crucial information for improving treatment strategies.