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Dissecting The Role Of Hedgehog Signalling In Chondrogenesis And Skeletal Disease
Funder
National Health and Medical Research Council
Funding Amount
$408,739.00
Summary
There are close to 400 inherited disorders that affect how the skeleton develops, as well as a range of injury and age-related skeletal defects. There is much interest in treating such abnormalities with artificial bone grown outside the body. In order to achieve this aim we must understand all of the processes involved in producing and maintaining bone within the body. We are using both mouse and cell culture models of skeletal development to increase our understanding of these processes.
Birth defects can have devastating consequences for individuals and their families, and improving our ability to diagnose and screen for these disorders has implications for treatment and reproductive options. We are using the mouse as a model to discover genes important in a new class of birth defects caused by dysfunction of a hair-like cellular projection known as the cilium.
The Primary Cilium In Hedgehog Signalling And Disease
Funder
National Health and Medical Research Council
Funding Amount
$583,312.00
Summary
Every mammalian cell has a single protrusion called the primary cilium. Recent studies in mice and humans have highlighted the importance of the primary cilium in disease states affecting the limb, kidney, skeleton, brain, eyes, ears and lungs, as well as obesity and diabetes. We have isolated a novel mouse with a defect in the machinery required for correct functioning of the primary cilium. This mouse has widespread abnormalities and will be used to elucidate the role of cilia in disease.
The Role Of SOX14 In Limb Development And Human Limb Defects.
Funder
National Health and Medical Research Council
Funding Amount
$257,606.00
Summary
Little is known about the mechanisms that control limb development. We have discovered a new gene which is active in the developing limb of the embryo. This study will provide information on how this new gene controls the development of the limb. Limb defects occur in 1 in 1,000 new-born babies. We believe the absence of our newly discovered gene may be responsible for some of these limb defects. Ultimately, this fundamental knowledge may lead to improved pre-natal diagnosis and better treament ....Little is known about the mechanisms that control limb development. We have discovered a new gene which is active in the developing limb of the embryo. This study will provide information on how this new gene controls the development of the limb. Limb defects occur in 1 in 1,000 new-born babies. We believe the absence of our newly discovered gene may be responsible for some of these limb defects. Ultimately, this fundamental knowledge may lead to improved pre-natal diagnosis and better treament for limb abnormalities.Read moreRead less
Modelling The Loss Of NF1 Heterozygosity In Congenital Pseudarthrosis Of The Tibia (CPT).
Funder
National Health and Medical Research Council
Funding Amount
$482,978.00
Summary
Congenital pseudarthrosis of the tibia or CPT is a dibilitating orthopaedic condition that affects children. Healing of a CPT is poor and, even with modern surgical techniques, amputation is a frequent outcome. As a group experienced in animal models of bone healing, we are well positioned to develop advanced genetic models of CPT in mice. With a better understanding of the underlying processes in CPT we will be able to develop treatments for this severe childhood condition.
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.
Investigation Of Delta3 Function And Notch Signalling During Cell Fate Specification In Mouse And Human
Funder
National Health and Medical Research Council
Funding Amount
$221,717.00
Summary
This project seeks to understand how cells within the developing embryo are produced and how they are given a specific identity. These processes often require the cell to make a decision about what type of cell it will become. We are using the Delta3 gene, which is present in humans and in the mouse, as a tool for our investigations. Delta3 is expressed at the surface of the cell and Notch (its receptor) is present on the surface of neighbouring cells. Delta3 on one cell will bind to Notch on th ....This project seeks to understand how cells within the developing embryo are produced and how they are given a specific identity. These processes often require the cell to make a decision about what type of cell it will become. We are using the Delta3 gene, which is present in humans and in the mouse, as a tool for our investigations. Delta3 is expressed at the surface of the cell and Notch (its receptor) is present on the surface of neighbouring cells. Delta3 on one cell will bind to Notch on the neighbouring cell and activates Notch. When Notch is activated in a cell it pushes the cell to make its decision. This project aims to determine what exactly is the function of Delta3 in mammals and how at the level of the individual cell this protein exerts its effects. We have generated a mouse in which the Delta3 gene is no longer active and have observed that embryos do not develop normally. We will explore these defects (which affect the skeleton and the brain) in detail in order to define their origins. We will also use these abnormal mice to identify genes, which require the function of Delta3 for their normal activity. It is not only important to define the function of Delta3 in mammals but also to determine this protein functions. We wish to know how exactly Delta3 interacts with Notch. That is, which part of the Delta3 protein binds to which part of the Notch protein. We can address this by modifying the Delta3 protein in small (but revealing ways) and see if it can still bind the Notch receptor in a cell culture assay. Our studies have relevance to humans because recently it has been shown that Delta and Notch are associated with a human syndrome (spondylocostal dysostosis) in which individuals suffer from abnormal skeletons.Read moreRead less
Identifying Strategies To Improve Perinatal Outcomes After Assisted Conception
Funder
National Health and Medical Research Council
Funding Amount
$724,799.00
Summary
Around 20% of young women express concern with being able to conceive, 16% experience clinical infertility, and ~8% use invasive therapies for which there can be limited safety data. We, and others, have reported adverse events for mother and child after infertility treatment, including neonatal death and birth defects. This project will provide urgently needed, robust evidence to guide patient and clinical decision making so as to optimise health of mother and baby.
Molecular Basis Of Transgenerational Epigenetic Inheritance In Mammals
Funder
National Health and Medical Research Council
Funding Amount
$477,965.00
Summary
While it has long been recognised that it is not just DNA, but chromosomes, that are passed from the gametes to the embryo, the non-DNA component was thought to carry no information with respect to the offspring's ultimate phenotype. However, there is now evidence that the non-DNA component, the epigenetic component, can play a role in the inheritance of phenotype in mammals. This study will attempt to determine the molecular nature of this phenomenon.
Improving Respiratory Transition And Outcomes Of Newborn Infants
Funder
National Health and Medical Research Council
Funding Amount
$262,251.00
Summary
Effective mask ventilation is the most important intervention at birth that can reduce mortality and disability in term and preterm infants. I will develop strategies to help clinicians improve their resuscitation skills. I will also study new ways to better support babies’ transition after birth, to improve their short and long term outcomes. The results of this research will change the way newly born babies are cared for around the world.