Centre Of Research Excellence (CRE) In Newborn Medicine
Funder
National Health and Medical Research Council
Funding Amount
$2,622,320.00
Summary
Problems around birth are common and can have long-term implications, including into adulthood. Our goal is to improve health outcomes for all newborn babies and their families by determining factors that enhance outcome and assessing the benefits and consequences of new treatments for mothers and babies. We are world leaders in this field and are dedicated to training the next generation of health professionals in the care of newborn babies, in Australia and the rest of the world.
Significance Of Low-level Mosaicism To Intellectual Disability In Paediatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$483,402.00
Summary
My vision for the next 4 years is to improve outcomes for children and their families with inherited disorders associated with intellectual disability (ID) and autism through earlier diagnosis and intervention. This is of great importance with annual costs of ID close $14.72 billion to the Australian health system, and missed or delayed diagnoses being a significant problem, as ID is found in 1.7% of births, where a specific cause is currently identified in less than half.
Motor problems, ranging from clumsiness to cerebral palsy, are one of the most common adverse outcomes in children born early. This study will investigate the motor development of children born <30 weeks’ gestation compared with peers born at term from birth to 5 years. We will determine whether early clinical evaluations or neuroimaging in the newborn period can predict later motor impairment at 5 years to be able to identify those who will benefit most from early intervention.
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.
Environmental Influences In The Establishment Of The Epigenetic Landscape In Children
Funder
National Health and Medical Research Council
Funding Amount
$695,097.00
Summary
The DNA in each of our cells does not exist alone, it is packaged into complex structures called chromosomes, through association with many different proteins. The distribution of these proteins varies along the length of a chromosome depending on the type of cell and this phenomenon is called 'epigenetics', literally meaning 'above the DNA'. Epigenetic analysis is the study of how proteins and other molecules can change the activity of a gene without changing the DNA sequence. All of our cells ....The DNA in each of our cells does not exist alone, it is packaged into complex structures called chromosomes, through association with many different proteins. The distribution of these proteins varies along the length of a chromosome depending on the type of cell and this phenomenon is called 'epigenetics', literally meaning 'above the DNA'. Epigenetic analysis is the study of how proteins and other molecules can change the activity of a gene without changing the DNA sequence. All of our cells use epigenetic changes to help control how they grow and develop. Evidence suggests a direct link between diet and environmental influences on our epigenetic profile. Recent research has traced the origins of many of the health problems of adult life back to the earliest periods of development _ to the time spent in the womb and the first few years of life. If we are born with a low birth weight, we are more likely to get sick later in life. Overwhelming evidence exists that the environment in the womb is critical for a healthy birth weight (and health in later life) and it is thought that epigenetics may be the missing link between this environment, low birth weight, and therefore health in later life. In addition, mounting evidence supports a general link between epigenetic de-regulation and predisposition to disease. However, the timing and the overall contribution of environmental- genetic influences to the establishment of faulty epigenetic markings remain largely unknown. Twins are the best model to study this link as they share similar (but not identical environments) and some share identical genetic makeup. Using twins, Dr Jeffrey Craig and his team will investigate the factors in the prenatal environment that modify specific cells, leading to low birth weight and increase disease risk later in life. They predict that this occurs via specific changes in gene activity caused by epigenetic disruption.Read moreRead less
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
Implementation Of A New, Inexpensive And High-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry Test For Superior Detection Of Fragile X Syndrome In Targeted Diagnostics And Newborn Population Screening.
Funder
National Health and Medical Research Council
Funding Amount
$254,175.00
Summary
Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment int ....Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.Read moreRead less
Characterization Of A Novel Epigenetic Boundary And Long Range Epigenetic Modifications Specific To FMR1 Expansion Carriers With Behavioural And Cognitive Disorders - Implications For Earlier Diagnosis And Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$670,836.00
Summary
Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.