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Cerebral Palsy (CP) is a devastating, common developmental brain disorder once assumed to be due to lack of oxygen at birth. Using our unique Biobank with DNA and clinical data from families with a CP child, we are examining the genetic origins of CP and how genes and risk factors in pregnancy contribute. We will use computer modelling and testing in animals and brain cells, to understand causes of CP and devise predictive, preventative and therapeutic strategies.
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Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health ser ....Development of a diagnostic microarray to detect aneuploidy in single cells. Chromosomal abnormalities account for about 10 per cent of all babies born with a defect. The risk of chromosomal abnormalities increases with maternal age and in patients with fertility problems. It has been estimated that 50 per cent of all embryos are aneuploid. Chromosomal aberrations also occur in the vast majority of tumours in humans. Accurate and rapid detection of chromosomal defects is an important health service delivered to the Australian public. This project aims to develop better tests for application in prenatal diagnostics including non-invasive testing of fetal cells from maternal circulation or cervical samples at 6-13 weeks gestation, IVF and cancer diagnostics.Read moreRead less
Birth Weight, Adult Weight And Podocyte Depletion.
Funder
National Health and Medical Research Council
Funding Amount
$796,252.00
Summary
A major role of our kidneys is to filter our blood. A key cell type in our kidney filters is an octopus-shaped cell known as the podocyte. If we are not born with enough podocytes, or if the filters grow too large after birth due for example to excessive weight gain, the podocytes cannot adequately filter the blood, and this can lead to kidney disease. We will measure podocyte endowment at birth, and assess the effects of weight gain and loss after birth on podocyte features and kidney health.