Epigenetic And Neurobehavioural Changes In A New Mouse Model Of Foetal Alcohol Spectrum Disorders.
Funder
National Health and Medical Research Council
Funding Amount
$949,466.00
Summary
Prenatal alcohol exposure can result in foetal alcohol syndrome (FAS) which involves growth restriction, changes to skull morphology, central nervous system defects and intellectual disabilities. At present, diagnosis is difficult and under-reporting is suspected. We are using a mouse model to study the underlying causes of FAS, focussing on changes in brain structure and function. Hopefully we will identify markers that can be used for the early diagnosis of FAS in the future.
A significant proportion of Australian children are at health risk due to environmental metal exposure. It is suspected that exposure to metals during the prenatal period can result in permanent impairment. Human studies are, however, limited by lack of biomarkers that accurately measure exposure at specific times of intrauterine development. We are proposing to develop a novel method that utilizes human primary teeth to provide a direct measure of metal exposure during foetal development.
Disrupted Neurosteroid Synthesis Mediates The Adverse Effects Of Prenatal Stress
Funder
National Health and Medical Research Council
Funding Amount
$695,973.00
Summary
Maternal anxiety and related stress in pregnancy influences the fetus causing developmental changes that adversely affect the offspring leading to behavioural problems in childhood. However, mechanisms which transfer maternal changes to the fetus are unclear. We propose that disruption of the fetal-placental neurosteroid system is a major link. We will identify the deficits in this system caused by maternal stress and then examine therapies to reverse these disruptions.
Is Developmental Vitamin D Deficiency Associated With Autism-related Phenotypes: A Birth Cohort Study.
Funder
National Health and Medical Research Council
Funding Amount
$348,285.00
Summary
There is evidence that low vitamin D before birth may increase the risk of autism. This study will examine this hypothesis based on a Dutch birth cohort. If there is a link between vitami D and autism, then this can be readily addressed with prenatal supplements.
Improving Maternal And Infant Outcomes: A Multicentre Randomised Controlled Trial Of Midwifery And Dental Intervention
Funder
National Health and Medical Research Council
Funding Amount
$457,724.00
Summary
Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and po ....Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and potentially improve pregnancy outcomes.Read moreRead less
Towards Adequate National Provision Of Genomic Testing In Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$515,493.00
Summary
Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential ....Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential legal and policy changes in Australia.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.
Defining The Role Of The Ubiquitin Protein Ligase Nedd4 In Vascular Development.
Funder
National Health and Medical Research Council
Funding Amount
$702,166.00
Summary
Blood and lymphatic vessels are vital components of the cardiovascular system. Abnormalities in the growth and development of these vessels are associated with human disorders including cancer and cardiovascular disease. The focus of this application is to characterise the role of the ubiquitin protein ligase Nedd4 in vascular development, with the aim of identifying targets to which novel therapeutics for the treatment of blood and lymphatic vascular diseases could be generated.
Analysis Of Gene Regulation In Disorders Of Sex Development
Funder
National Health and Medical Research Council
Funding Amount
$524,852.00
Summary
Disorders of Sex Development (DSD) are surprisingly common, however the majority of cases still cannot be explained. Our hypothesis is that a significant proportion of DSD is due to disturbed gene regulation. We will use state of the art methods to analyse the regulation of DSD genes. Our research will improve our knowledge of the regulation of genes that affect DSD and provide a diagnosis for DSD patients for whom the underlying cause is unknown. This in turn will improve clinical management.
Muscle Fusion Defects May Be A Common Cause Of Human Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$391,419.00
Summary
While muscle fusion is a crucial step of muscle formation, it is surprising that human muscle diseases were never associated with muscle fusion defects. We have recently undertaken a genome-wide functional screen using a mouse muscle cell line. We identified 21 genes that were previously associated with muscle dystrophies in human. The aim of this project is to examine the role of those genes during muscle fusion in vivo, using the chick embryo, mouse mutants and lines from patients as models.