Identification And Characterisation Of Genes Required For Cardiac Morphogenesis
Funder
National Health and Medical Research Council
Funding Amount
$434,706.00
Summary
The heart is the first organ to become functional as an embryo forms, reflecting its critical role in sustaining life. Mistakes that occur as the heart develops have devastating consequences for an individualĂs survival and health. We have identified two zebrafish mutants with heart defects and, using sophisticated imaging and genetic studies, will investigate these defects and identify the genes responsible. This research will improve our understanding of correct and diseased heart formation.
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.
A Novel Gene Family Implicated In Neural Crest And Craniofacial Malformation
Funder
National Health and Medical Research Council
Funding Amount
$695,016.00
Summary
We have identified a new type of receptor that when defective causes facial clefting in animal models. We are using our unique laboratory and clinical resources to understand how these birth defects occur and to investigate the molecular signalling events that are controlled by this olfactory receptor. These studies will pave the way to designing pharmaceuticals that may eventually ameliorate or even stop this major group of birth defects.
Recent Changes In IVF Clinical Practice: Data Linkage To Investigate Their Impact On Fetal Growth And Birth Defects.
Funder
National Health and Medical Research Council
Funding Amount
$219,076.00
Summary
In Australia 1 in 25 births are conceived from IVF treatment and this is increasing with the continuing trend towards later childbearing. This study will use linked population data to assess fetal growth and birth defects in IVF-conceived children following major changes to IVF practice in the last decade. There are limited data internationally on health outcomes following the use of more recent IVF techniques and insufficient data to allow for adequate pre-treatment counselling.
Gene Identification In Familial Orofacial Clefts By Genomic Technologies
Funder
National Health and Medical Research Council
Funding Amount
$565,181.00
Summary
Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique t ....Cleft lip/palate (CL/P) is among the most common malformation disorders but the causes of this condition are largely unknown. We do know that gene mutations cause CL/P in some people. We have also shown that the p63 gene may influence the activity level of genes involved in CL/P by attaching to regulatory elements near these genes. Changes in as yet unidentified genes controlled by p63 are strong possibilities for the cause of CL/P. We will test these by next generation sequencing, a technique that analyses all human genes.Read moreRead less
Prospective Study Of Birth Defects From Fetotoxic Agents In The Public Water Supply
Funder
National Health and Medical Research Council
Funding Amount
$732,036.00
Summary
Recent research in Australia & internationally shows that birth defects are more common in areas where mothers are exposed to poor quality drinking water, particularly when treatment chemicals known as trihalomethanes (THMs) are present. We will determine the risk that high THM levels pose to unborn babies by accurately measuring individual exposures to THMs & correlating these with adverse birth outcomes. The study will be in Perth where THM levels are very high in a number of suburbs.
Determining The Causes Of Congenital Vertebral Defects
Funder
National Health and Medical Research Council
Funding Amount
$956,136.00
Summary
Many birth defects cause vertebral malformations along the spinal column. These originate as the fetus forms, and we have previously shown that some of these are caused by gene mutation and/or environmental factors during gestation. However, the origins of many such defects remain unexplained. We will examine the DNA of a large number of patients to find more genes causing such defects. We will also test if these new genes predispose a fetus to being more susceptible to environmental influences.
Each year approximately 24,000 Australian children are born too early. A new international study led by Western Australian researchers is studying the role that genetics play in preterm birth. This study will evaluate the genomes of 10,000 women of which 2,000 come from Western Australia. It is anticipated that this study will advance our knowledge about the genetic basis of preterm birth and assist in providing customised clinical care to those at highest risk.
Premature babies often need assistance to breathe but this can injure the lung and lead to abnormal lung development and long-term lung disease. We have recently identified 3 factors that we believe are fundamental to initiating this abnormal lung development. We will demonstrate that these 3 factors mediate abnormal lung development following lung injury at birth. This information can then be used to reduce the incidence and severity of chronic lung disease of the newborn.
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.