Identification Of Novel Mechanisms Governing Stage-specific Regulation Of The Human Globin Genes
Funder
National Health and Medical Research Council
Funding Amount
$481,826.00
Summary
Hemoglobin is the major protein in red blood cells and is essential for the transport of oxygen from the lungs to the tissues. The disorders of hemoglobin production are the commonest genetic diseases worldwide. These diseases can be markedly improved with elevation of the form of hemoglobin produced by the developing embryo, fetal hemoglobin. We have identified key factors important for fetal gene expression. Our goal is to translate these findings into therapies for the hemoglobin disorders.
What shapes our brain? This project aims to improve our fundamental understanding of the biological mechanisms that drive folding of the cerebral cortex, which occurs during development of the brain. Cortical folding is unique to humans and higher mammals, and is thought to underpin the emergence of intelligence and contribute to higher-order brain functions. This project will enhance knowledge of how the cerebral cortex folds and develop novel tools for analysing brain development. The project ....What shapes our brain? This project aims to improve our fundamental understanding of the biological mechanisms that drive folding of the cerebral cortex, which occurs during development of the brain. Cortical folding is unique to humans and higher mammals, and is thought to underpin the emergence of intelligence and contribute to higher-order brain functions. This project will enhance knowledge of how the cerebral cortex folds and develop novel tools for analysing brain development. The project will provide significant benefits including the generation of fundamental knowledge with implications for future understanding of cortical folding abnormalities in babies born preterm, following fetal growth retardation in utero, or when exposed to maternal alcohol. In the longer term, the project will contribute to improvements to human neurodevelopment and brain health.Read moreRead less
Neural migration: Which cells advance and which stay behind? This project aims to examine the neural crest cells that colonise the developing gut and to identify why some cells advance while others stay behind to populate a region. Directed cell migration is essential for normal development, including for the nervous system. In most of the migratory cell populations that have been analysed to date, all of the cells migrate as a collective from one location to another. However, there are also mi ....Neural migration: Which cells advance and which stay behind? This project aims to examine the neural crest cells that colonise the developing gut and to identify why some cells advance while others stay behind to populate a region. Directed cell migration is essential for normal development, including for the nervous system. In most of the migratory cell populations that have been analysed to date, all of the cells migrate as a collective from one location to another. However, there are also migratory cell populations that must populate the areas through which they migrate, and thus some cells get left behind while others advance. The planned data are likely to be relevant to other cell populations that also populate the areas through which they migrate, including neural crest-derived melanocytes and Schwann cell precursors.Read moreRead less
Wiring the gut's nervous system: formation and maturation of synapses. This project aims to determine how nerve circuits controlling intestinal functions develop; specifically how communication between specific nerve cells is established once they appear in the embryonic gut. It will fill a major hole in existing knowledge of mechanisms regulating the development of normal digestive behaviours.
A longitudinal study exploring women's experiences following a prenatal diagnosis of fetal abnormality. In Australia four per cent of babies are born with a congenital abnormality, many of which are detected during pregnancy. Little is known about women's experiences of a diagnosis. The aim of this study is to explore women's experiences following the diagnosis of a fetal abnormality during pregnancy, in order to develop appropriate models of supportive care.
Defining the pathways of developmental brain injury, for a healthy start to life. Injury to the developing brain, whether sustained during pregnancy or at birth, is the underlying cause of many cognitive and motor disabilities, including cerebral palsy. This project will identify the cellular pathways that cause developmental brain injury, arising from the three principal complications of pregnancy or birth; intrauterine growth restriction (IUGR), preterm birth with/without intrauterine infectio ....Defining the pathways of developmental brain injury, for a healthy start to life. Injury to the developing brain, whether sustained during pregnancy or at birth, is the underlying cause of many cognitive and motor disabilities, including cerebral palsy. This project will identify the cellular pathways that cause developmental brain injury, arising from the three principal complications of pregnancy or birth; intrauterine growth restriction (IUGR), preterm birth with/without intrauterine infection and birth asphyxia. This project will utilise this knowledge of the causal pathways leading to brain injury to implement targeted therapies to reduce injury or repair the brain. It will progress fundamental biomedical discoveries into clinical practice to decrease the incidence and severity of newborn brain injury and cerebral palsy.Read moreRead less
Using mouse genetics to understand skin development and cell biology. During embryonic development the skin forms a protective barrier which permits life outside the womb and provides a window into the biology of cells. This project aims to use the skin to identify and characterise genes necessary for embryonic development and maintenance, the development of diseases and to explore their broader roles in other organs.
New techniques to detect fetal heart abnormalities. Australia’s national fetal death rate is 6.7 per one thousand births. In Australia’s Indigenous community it surges to 12.3 deaths per one thousand births. Early diagnosis (and management) of abnormal fetu.ses with cardiac defects will go a long way in reducing these numbers. The proposed technology will help set up easy-to-use systems for fetal cardiac abnormality screening and reduce fetal deaths and congenital heart disease burden in adult l ....New techniques to detect fetal heart abnormalities. Australia’s national fetal death rate is 6.7 per one thousand births. In Australia’s Indigenous community it surges to 12.3 deaths per one thousand births. Early diagnosis (and management) of abnormal fetu.ses with cardiac defects will go a long way in reducing these numbers. The proposed technology will help set up easy-to-use systems for fetal cardiac abnormality screening and reduce fetal deaths and congenital heart disease burden in adult life. This project will also provide domain trained researchers with cutting edge international academic and industry expertise.Read moreRead less
Characterisation Of Eurl, A Novel Gene Implicated In The Etiology Of Abnormal Brain Development And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$597,541.00
Summary
Intellectual disability affects around one per cent of Australians, and can arise from genetic abnormalities during fetal life, such as through abnormal regulation of gene expression. We have identified a novel gene, known as eurl, which controls brain assembly as well as the ability of neurons to form functional connections within the brain. We will investigate how this novel gene controls brain development, and characterise eurl as a potential therapeutic target for learning and memory.
Investigating A Theoretical Model Of Cognitive Control In Children With Attention Deficit Hyperactivity Disorder (ADHD): Informing Our Approach To Cognitive Training.
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
ADHD is the most common childhood developmental disorder, characterised by inattentive and/or hyperactive behaviours. Cognitive control has been highlighted as a potential mediator of ADHD symptoms. This program will i) delineate the relationship between cognitive control and ADHD symptoms, ii) develop a cognitive training intervention to target the underlying mechanisms identified as mediators of ADHD symptoms and iii) evaluate the program in a gold-standard clinical trial.