Identifying The Critical Pathways Which Regulate Vertebrate Craniofacial Development
Funder
National Health and Medical Research Council
Funding Amount
$552,131.00
Summary
Understanding the genes which underlie human birth defects is of immense clinical importance. Our laboratory is a world-leader investigating a gene responsible for facial skeleton development, Grhl2. With our wide range of models, we will discover how Grhl2 works to ensure the face and skull develop properly during birth.
The Role Of The Mammalian Grainyhead-like Gene Family In Neural Tube Closure
Funder
National Health and Medical Research Council
Funding Amount
$569,541.00
Summary
Failure of the skin to close over the brain and spinal cord during human development results in the devastating congenital birth defects anencephaly and spina bifida, known collectively as the neural tube defects. These are the second most common congenital birth defects affecting 1:1000 pregnancies. Anencephaly is not compatible with life and affected babies die at birth. In contrast children with spina bifida survive, but suffer from limb paralysis, bowel and bladder dysfunction, learning diff ....Failure of the skin to close over the brain and spinal cord during human development results in the devastating congenital birth defects anencephaly and spina bifida, known collectively as the neural tube defects. These are the second most common congenital birth defects affecting 1:1000 pregnancies. Anencephaly is not compatible with life and affected babies die at birth. In contrast children with spina bifida survive, but suffer from limb paralysis, bowel and bladder dysfunction, learning difficulties and psycho-social disturbances. Our laboratories have identified a family of genes essential for the colsure of the neural tube in mammals. The aim of this proposal is to understand the mechanisms of action with a view to developing new therapeutics that mey be used preventatively in these conditions. We also hope that these studies may facilitate the development of a genetic test to screen couples at risk.Read moreRead less
Impact Of Extreme Prematurity Or Extreme Low Birthweight On Young Adult Health And Well-Being: The Victorian Infant Collaborative Study (VICS) 1991-92 Longitudinal Cohort
Funder
National Health and Medical Research Council
Funding Amount
$725,496.00
Summary
Significant advances in medical care have increased survival of the tiniest and most premature babies. Those who have benefited from modern medicine are now in their mid-20s. We know they have more problems in childhood and adolescence compared with those born full term. However, we know little about their health problems in adulthood. This study will inform us of adult health problems in this vulnerable group and provide vital information about the best care for this increasing group of adults.
Improving The Neonatal Transition In Infants With A Congenital Diaphragmatic Hernia
Funder
National Health and Medical Research Council
Funding Amount
$551,644.00
Summary
Congenital diaphragmatic hernia is a common congenital abnormality and occurs when the diaphragm fails to separate the abdominal and thoracic compartments before birth. This prevents the lung from growing properly and so at birth, the lung is unable to take over the role of gas exchange without considerable assistance. As a result, these infants are at high risk of death or significant disability and this application is focused on improving care and reducing morbidity in these infants.
Respiratory failure at birth is a major cause of death and disease in newborn infants. At birth the airways must be cleared of liquid to allow the inhalation of air, but, little is known about the process of lung aeration, because it has not been possible to observe or measure it. We have developed imaging and analytical techniques to observed and measure lung aeration. We will determine ventilation procedures that promote uniform lung aeration and minimise lung injury in ventilated infants.
Determining The Impacts Of Epigenetic Modifying Drugs On Germline Programming And Offspring Health
Funder
National Health and Medical Research Council
Funding Amount
$863,918.00
Summary
New drugs have been developed that inhibit specific enzymes that regulate epigenetic pathways in cells. These pathways significantly affect growth and development in offspring and may represent a risk to future children of patients taking the drug. This project will determine these risks and provide data for developing clinical guidelines for safe use of the drugs.
Optimising Non-invasive Ventilation At Birth For Preterm Infants
Funder
National Health and Medical Research Council
Funding Amount
$735,912.00
Summary
Infants born very premature require respiratory support at birth to make the transition to newborn life. As these infants are very immature and prone to injury, modern respiratory care strategies utilise the least invasive approaches mainly applied using a facemask. However, we have discovered that the larynx is closed at birth and thereby prevents air from entering the lung. This application is focussed on optimising the efficiency of facemask ventilation at birth and stimulating breathing.
Mental Health Across Generations: Pre-and Post Conception Predicators Of Early Life Risks
Funder
National Health and Medical Research Council
Funding Amount
$666,231.00
Summary
In 2003, mental illnesses were among the ten leading causes of disease burden in Australia, accounting for 13% of the total burden of disease, according to the Australian Institute of Health and Welfare. Mental health problems and mental illness are among the greatest causes of disability, diminished quality of life, and reduced productivity. People affected by mental health problems often have high levels of morbidity and mortality, experiencing poorer general health and higher rates of death f ....In 2003, mental illnesses were among the ten leading causes of disease burden in Australia, accounting for 13% of the total burden of disease, according to the Australian Institute of Health and Welfare. Mental health problems and mental illness are among the greatest causes of disability, diminished quality of life, and reduced productivity. People affected by mental health problems often have high levels of morbidity and mortality, experiencing poorer general health and higher rates of death from a range of causes, including suicide. These conditions are significant in terms of prevalence and disease burden, and have far-reaching impacts for families, carers and others in the community. Mental health problems commonly cluster in families. However, few studies have previously been able to investigate the range of ways in which mental disorders may pass from one generation to another. Further, evidence suggests that influences that arise prior to conception may have major effects on early life risks such as development in utero, birth outcomes and early maternal infant bonding. Mental Health across Generations: Pre- and post-conception predictors of early life risks is a unique study that will examine antenatal maternal mental health and risk behaviours during pregnancy. The study will also examine the links between prior maternal mental health and later birth outcomes, and post natal maternal infant bonding. The risk processes to be tested will include genetic, epigenetic (changes in gene expression), physiological and psycho-social parameters.Read moreRead less
Defining Epigenetic Predictors Of Long-term Outcomes Of Preterm Birth
Funder
National Health and Medical Research Council
Funding Amount
$409,408.00
Summary
On average, those born premature do worse health-wise than those born at term. However, some do worse than others. Our aim is to identify these people at birth to better help doctors and parents to closely monitor their health. For this, we will be “reading the diary of pregnancy” in the molecules added to chromosomes in blood during pregnancy in young adults with will characterised states of health. We will analyse DNA from blood that we will extract from stored heel prick spots.
We aim to predict neurodevelopmental disability in babies born very preterm, earlier and more accurately than currently possible, by identifying structural and functional connectivity features that correlate with clinical measures of motor and neurodevelopmental functions. To do this we will use brain magnetic resonance imaging (MRI), dense array electroencephalography (EEG) and structured clinical neurodevelopmental assessments to provide a cutting edge view of the state of brain development.