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Research Topic : developmental delay
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Developmental Genetics (incl. Sex Determination) (26)
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  • Funded Activity

    Predicting Language Skills From Early Auditory Speech Discrimination In Infants With Hearing Loss: Implications For Early Management And Intervention

    Funder
    National Health and Medical Research Council
    Funding Amount
    $706,113.00
    Summary
    Now that newborn hearing checks are available, hearing loss can be picked up soon after birth and hearing aids are fitted shortly after. Although procedures exist for checking that the devices make sounds audible, there is no way to evaluate their effectiveness for supporting a child’s auditory discrimination. This study aims to 1) develop new clinical tools for assessing infants’ auditory discrimination, and 2) determine whether early discrimination predicts spoken language at 3 years of age.
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    Funded Activity

    How Language Develops, What Goes Wrong, And Why It Matters: Following The Early Language In Victoria Study To Age 13

    Funder
    National Health and Medical Research Council
    Funding Amount
    $857,242.00
    Summary
    One in five children start school with low language. Little is known about the long term effects on developmental, educational attainment and other outcomes later in life. In this landmark study we will track the children's language, literacy and wellbeing from ages 8 to 12 years. We will capture the children's ability as they finish their primary school education and prior to the crucial transfer to high school.
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    Funded Activity

    Should Very Premature Babies Receive A Placental Transfusion At Birth? A Randomised Controlled Trial.

    Funder
    National Health and Medical Research Council
    Funding Amount
    $2,875,774.00
    Summary
    Premature babies under 30 weeks gestation are up to a hundred times more likely than full term babies to die or survive with major disability, often from brain damage due to poor blood flow after birth. This randomised study will find out if giving them more placental blood at birth, by means of a delay in clamping the umbilical cord, then milking it, reduces anemia, blood transfusions, brain damage, infection, death and disability. The results may benefit millions of premature babies worldwide.
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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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    Funded Activity

    Tissue-dependent Proregenerative Mechanisms In Adult Vertebrates

    Funder
    National Health and Medical Research Council
    Funding Amount
    $638,742.00
    Summary
    This proposal addresses how immune cells participate in regeneration of damaged organs in adult zebrafish. Unlike mammals, zebrafish have a remarkable capacity to regenerate their various body parts in adulthood, providing a model to understand how regeneration capacity might be induced in humans. The proposed study will define mechanisms of immune-mediated regeneration that could provide new cellular and molecular targets for stimulating replacement of damaged organs in the human injury setting
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    Funded Activity

    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.
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    Funded Activity

    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.
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    Funded Activity

    Characterisation Of SRY Macromolecular Complexes To Provide An Enhanced Understanding Of Human Genetic Sex Reversal And Embryonic Sex Determination

    Funder
    National Health and Medical Research Council
    Funding Amount
    $237,360.00
    Summary
    SRY is the most important gene in the determination of human sex. Mutations in the SRY gene that disrupt its ability to interact with other cellular proteins that regulate its function have shown to result in genetic sex reversal. This project will provide a detailed structural profile of the interfaces that are critical for sex determination, provide a molecular basis for XY-genetic sex reversal, and an enhanced understanding of foetal development.
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    Funded Activity

    Identifying Genes Required For Vertebral Column And Heart Formation

    Funder
    National Health and Medical Research Council
    Funding Amount
    $950,418.00
    Summary
    Birth defects occur in about 3% of live births. These originate as the embryo forms, and we have previously shown that some of these are caused by gene mutation and/or environmental factors during gestation. However, the origins of many such defects remain unexplained. We will examine the DNA of patients to find gene mutations causing such defects. We will also test if mutations in these genes increase the likelihood of the embryo developing a defect if it is exposed to environmental stressors.
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    Funded Activity

    Molecular Regulation Of Apoptosis In Endothelial Cells

    Funder
    National Health and Medical Research Council
    Funding Amount
    $593,888.00
    Summary
    This project seeks to understand the mechanisms by which cells that make up our blood vessels are kept alive. Impaired blood vessel cell survival contributes to reduced blood vessel health, a major component of cardiovascular disease. Knowledge of how these cells are kept alive could prove useful in treating diseases affecting vessel cell survival, or potentially to combat those diseases that are caused by excessive blood vessel growth.
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    Showing 1-10 of 100 Funded Activites

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