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Research Topic : developmental defects
Scheme : Project Grants
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Developmental Genetics (incl. Sex Determination) (28)
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  • Funded Activity

    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.
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    Funded Activity

    Mobilisation Of Endogenous Mesenchymal Progenitor Cells For Growth Plate Regeneration

    Funder
    National Health and Medical Research Council
    Funding Amount
    $605,251.00
    Summary
    Growth plate cartilage is responsible for bone growth in children. Its injury is common and is often repaired undesirably by bony tissue which causes significant bone growth defects. This project will develop a biological treatment through mobilising endogenous progenitor cells to enhance growth plate regeneration and prevent bone growth defects, which will allow patients to avoid highly invasive/costly corrective surgeries.
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    Funded Activity

    Defining The Role Of IGF-1 As A Novel Angiocrine Factor In The Development And Treament Of Common Craniofacial Disorders

    Funder
    National Health and Medical Research Council
    Funding Amount
    $573,848.00
    Summary
    1 in 1000 children are born with a small jaw, which requires invasive surgery for treatment. We identified that defects in blood vessel development in the jaw underlie some cases of these craniofacial defects. We found that factors secreted from the major artery in the jaw can promote jaw growth, and our research proposal aims to identify what exactly these factors are. These factors have the potential to be used to therapeutically treat children with a small jaw to help it grow correctly.
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    Funded Activity

    Pre-clinical Validation Of A Novel Implant For Bone Tissue Engineering

    Funder
    National Health and Medical Research Council
    Funding Amount
    $435,767.00
    Summary
    The aim of this grant to was examine a new method for manufacturing implants to improve repair of critical bone defects. It involves new technology for the manufacture of porous scaffolds and testing their delivery in a biological, bone repair setting.
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    Funded Activity

    Optimising Bone Regeneration Using Advanced Design And Fabrication Technologies

    Funder
    National Health and Medical Research Council
    Funding Amount
    $916,671.00
    Summary
    The aging population has produced a rapidly increasing demand for synthetic implants that can regenerate lost or diseased bone. This project will produce an implant that represents a viable alternative to bone autografts and allografts with broad applications for the repair of large or challenging bone defects. Such an achievement will have significant healthcare benefits by reducing patient morbidity and recovery time, and improving long-term outcomes.
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    Funded Activity

    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.
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    Funded Activity

    Tyrosine Kinase Receptor C-ros-oncogene 1 Mediates Twist-1 Haploinsufficiency Induced Craniosynostosis In Children: A Novel Therapeutic Target

    Funder
    National Health and Medical Research Council
    Funding Amount
    $562,863.00
    Summary
    Children with Saethre-Chotzen syndrome exhibit premature fussed coronal sutures, and other skull/ skeletal malformations. Surgical intervention is the only treatment option to ensure optimal cognitive and skeletal development. Our studies have identified a candidate molecular pathway that regulates bone formation by cranial bone cells from these patients. Targeting these key molecular signalling components with chemical inhibitors will help prevent the premature fusion of cranial sutures.
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    Funded Activity

    Multipotent Stem Cells Derived From Postimplantation Mouse Embryos: Evaluation Of Germ Layer Differentiation Potential

    Funder
    National Health and Medical Research Council
    Funding Amount
    $788,818.00
    Summary
    This study of the properties of cells that can differentiate into specific lineages provides useful insights into the cellular and molecular mechanisms for the specification of these progenitors from the pluripotent stem cells. The procurement of tissue-specific precursor cells that are capable of self-renewing and population expansion is a critical pre-requisite for achieving directed differentiation of stem cells into therapeutically useful cells for tissue replacement and regeneration.
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    Funded Activity

    A Novel Molecular Player In Ciliopathy Phenotypes

    Funder
    National Health and Medical Research Council
    Funding Amount
    $644,624.00
    Summary
    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.
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    Funded Activity

    Involvement Of The Asciz Gene In Kidney Development And Disease

    Funder
    National Health and Medical Research Council
    Funding Amount
    $591,128.00
    Summary
    Congenital abnormalities of the kidney and urinary tract (CAKUT) affect more than 1/500 children. Urogenital development is primarily controlled by a small number of genes that regulate the timing and position of kidney formation. In this application we describe a novel gene involved in this process, establish where it acts, how it regulates gene expression and whether mutations in it cause CAKUT.
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    Showing 1-10 of 110 Funded Activites

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