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Identifying The Genetic And Environmental Causes Of Congenital Malformation
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
Birth defects are common, devastating and costly to families and to society. The cause is unknown in 80% of cases. This research is helping families by finding the gene mutations that cause birth defects. Gene discoveries, in some cases, will highlight environmental factors that are important for normal embryo formation, such as oxygen levels and dietary components. By identifying gene and environmental factors associated with causing birth defects, we hope to ameliorate or prevent many cases.
Defining The Role Of IGF-1 As A Novel Angiocrine Factor In The Development And Treament Of Common Craniofacial Disorders
Funder
National Health and Medical Research Council
Funding Amount
$573,848.00
Summary
1 in 1000 children are born with a small jaw, which requires invasive surgery for treatment. We identified that defects in blood vessel development in the jaw underlie some cases of these craniofacial defects. We found that factors secreted from the major artery in the jaw can promote jaw growth, and our research proposal aims to identify what exactly these factors are. These factors have the potential to be used to therapeutically treat children with a small jaw to help it grow correctly.
Genetic Autopsy Of Perinatal Death: Diagnosis And Discovery By Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$989,332.00
Summary
Stillbirth, miscarriage and genetic termination of pregnancy are common and traumatic events. Despite medical investigation, many of the causes of these events are unexplained. This project plans to employ the latest in whole genome sequencing and functional modelling to explain these occurrences as well as lead to an increase in knowledge of genetics and development.
Improved Treatment Of Congenital Cytomegalovirus Disease Through Study Of Placental Models Of Pathogenesis
Funder
National Health and Medical Research Council
Funding Amount
$674,918.00
Summary
Congenital CMV is the second most common cause of fetal malformation in Australia, and yet most pregnant mothers do not know about it, nor how to prevent congenital CMV in their baby. It is a viral infection that can severely damage the unborn baby. Our research aims to find more about how the virus damages the baby, and whether antiviral drugs are useful in reducing infection of the baby, and also reducing damage to the baby from such infection. If successful, these studies will be the basis fo ....Congenital CMV is the second most common cause of fetal malformation in Australia, and yet most pregnant mothers do not know about it, nor how to prevent congenital CMV in their baby. It is a viral infection that can severely damage the unborn baby. Our research aims to find more about how the virus damages the baby, and whether antiviral drugs are useful in reducing infection of the baby, and also reducing damage to the baby from such infection. If successful, these studies will be the basis for clinical trials in pregnant women.Read moreRead less
Novel Roles For Neural Crest Cells In Cardiac Morphogenesis
Funder
National Health and Medical Research Council
Funding Amount
$553,848.00
Summary
Abnormal formation of the cardiac outflow tract leads to common malformations affecting over 1% of all births. Taking advantage of novel mouse models this grant aims to identify the molecular mechanisms by which neural crest cells control formation of the cardiac outflow tract. New information generated from this study stands to identify new targets which may be used for predictive testing and regenerative therapies.
Birth defects can have devastating consequences for individuals and their families, and improving our ability to diagnose and screen for these disorders has implications for treatment and reproductive options. We are using the mouse as a model to discover genes important in a new class of birth defects caused by dysfunction of a hair-like cellular projection known as the cilium.
Understanding Human Dysmorphology Through Analysis Of ENU Mutant Mice
Funder
National Health and Medical Research Council
Funding Amount
$602,501.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Rapid Identification And Characterisation Of Genes Involved In Skeletal Development
Funder
National Health and Medical Research Council
Funding Amount
$550,536.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Homeodomain Nkx2-5-dependent Negative Feedback Loop Important In Heart Development And Congenital Heart Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,330,245.00
Summary
Congenital heart disease (CHD) is the cause of most deaths in children in the first year of life. We have identified a genetic pathway important for both normal cardiac development and CHD that involves the cardiac transcription factor Nkx2-5. This pathway controls a transition in embryos between cardiac cell specification and expansion. We will now explore the biochemical and genetic mechanisms underlying this pathway to help us understand CHD and identify its causative genes.
Long-term Surgical And Socioeconomic Outcomes Following Aortopulmonary Septal Defect Repair In Children
Funder
National Health and Medical Research Council
Funding Amount
$89,197.00
Summary
About 2% of heart defects are due to communication between the 2 main arteries exiting the heart (truncus arteriosus and aortopulmonary window). If untreated, up to 30% of children die in the first year of life. With surgery many patients are now surviving into adulthood. The long-term outcomes are unknown. This study will review all patients with this defect across Australian and New Zealand. Results from this study will allow us to best manage these patients in the short and long-term.