Approaches To Therapy For The Skeletal Muscle Actin Diseases
Funder
National Health and Medical Research Council
Funding Amount
$912,078.00
Summary
We have shown that errors in a crucial muscle protein called actin cause muscle diseases that affect newborn children. These diseases are mainly very severe, causing death within the first year of life. Currently there is no cure. This project will investigate possible therapies for these diseases, such as viral delivery of a normal version of actin and finding a drug to overcome the weakness. Successful outcomes will crucially bring treatment closer for the patients.
Central Aortic Blood Pressure In Children: Establishing A Gold Standard Non-invasive Assessment Of Cardiovascular Risk
Funder
National Health and Medical Research Council
Funding Amount
$694,342.00
Summary
The best way of assessing early risk of cardiovascular disease involves measuring blood pressure near the heart (central pressure), but existing devices used in adults for this purpose are inaccurate in children. We will develop a children-specific method and apply it to study early cardiovascular risk in a comprehensive health study of 2000 children Australia-wide. We will also investigate why children with congenital heart disease frequently develop ‘older-adult’ heart disease at a young age.
NDI1 Therapy For NADH-Ubiquinone Oxidoreductase Deficiency
Funder
National Health and Medical Research Council
Funding Amount
$575,762.00
Summary
This study will test a new protein therapy that can act as a surrogate for a deficient or defective enzyme called Mitochondrial Complex 1. The deficiency occurs in newborns with defective genes for the proteins that form the enzyme. The defect causes metabolic malfunction in most organs, with patients needing specialist hospital and parental care, but there is no cure yet. We have successfully tested this in the lab but will now test this in our new animal model of the disease.
Identifying Disease Genes For Neurogenetic Disorders Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$2,523,023.00
Summary
This project aims to identify novel disease genes, in other words, find genes, which have not previously been shown to cause human diseases when they are mutated. The collaborating laboratories on the project in Perth, Sydney, Melbourne and Boston, USA have a successful history in working together in finding human disease genes, harnessing, in the last few years, the now readily available power of next generation DNA sequencing to accelerate disease gene discovery.
The Effects Of ?-actinin-3 On Muscle Metabolism, Human Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$643,060.00
Summary
We have identified a common genetic variant that results in absence of the fast muscle fibre protein ?-actinin-3 in more than one billion humans worldwide. Loss of ?-actinin-3 influences elite athletic performance, muscle bulk and strength in the general population, response to diet and exercise, and susceptibility to obesity and developing type 2 diabetes. We have also demonstrated that ?-actinin-3 influence disease severity in a variety of inherited and acquired muscle disorders.
Improving Functional Outcomes After Fontan Surgery By A Cross-sectional Study Of The Outcomes Following Variation In Practice In Australia And New Zealand: Focus On Anticoagulation And Cardiac Shunting By The Fenestration
Funder
National Health and Medical Research Council
Funding Amount
$768,643.00
Summary
The Fontan procedure is the last of a series of life-saving operations offered to children born with only one pumping chamber in their heart. We intend to perform the largest and most detailed investigation to date of the patients enrolled in the Australia and New Zealand Fontan Registry, today the world's largest database of this kind. This cross-sectional study will enable us to identify the drugs and interventions that will best maximize their exercise capacity and quality of life
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
The ZIC3 Heterotaxy-associated Transcription Factor: A New Player In Nuclear Control Of Canonical Wnt Signalling
Funder
National Health and Medical Research Council
Funding Amount
$992,822.00
Summary
Humans have many internal asymmetries that need to occur in a consistent manner across all individuals. Examples of asymmetry include our unpaired organs (like the heart or liver) or a paired organ with asymmetry (like the lungs). In this project we will use cutting edge molecular embryology and cell biology techniques to explore the mechanisms behind the remarkable feat of establishing asymmetry so we are better able to help those individuals with laterality disorders.
The Role Of EphA2 Signalling And Environmental Modifiers In Cataract.
Funder
National Health and Medical Research Council
Funding Amount
$591,547.00
Summary
In cataract the clear lens in the eye becomes opaque causing blindness. Cataract is very common in the elderly, but is rarely also seen in babies and children. In babies certain gene defects, and in the elderly the genes and environmental factors contribute to cataract. The EPHA2 gene causes cataract in both young and old people. This project aims to understand how EPHA2 and other related genes cause cataract in young and old people, to prevent, delay or improve its treatment in the future.
Critical Illness In Children: Can We Afford To Neglect The Psychosocial Risks? The Impact, Acceptability, And Cost-effectiveness Of Routine Psychosocial Assessment And Stepped Care For Families Of Infants With Heart Disease
Funder
National Health and Medical Research Council
Funding Amount
$975,116.00
Summary
There is overwhelming evidence that children with heart disease (CHD) and their families suffer high levels of psychological stress, with consequent heightened suffering, impaired cooperation with treatment, and high financial costs. This research will produce a system-wide increase in the proportion of families of babies with CHD who have access to psychosocial care, and will reduce the proportion of parents who experience depression and anxiety. Economic impacts of CHD will also be determined.