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
The Lililwan Project: Prevalence Of Fetal Alcohol Spectrum Disorders In The Fitzroy Valley
Funder
National Health and Medical Research Council
Funding Amount
$777,758.00
Summary
Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service deliver ....Alcohol use in pregnancy is widespread in Australia. Alchohol may cause physical and developmental problems in the developing child including the Fetal Alcohol Spectrum Disorders (FASD). This collaborative project, initiated and led by Aboriginal leaders in the Fitzroy Valley in the remote East Kimberley, WA, will establish the prevalence of FASD, health and developmental problems in a population of primary school-aged, predominantly Aboriginal children and develop strategies for service delivery, prevention and education.Read moreRead less
Developmental Programming: Mechanisms And Interventions
Funder
National Health and Medical Research Council
Funding Amount
$705,501.00
Summary
Disturbances during pregnancy can impact on developmental processes and result in increased risk of disease in later life. This project will examine the impact of perturbations such as maternal stress or alcohol consumption on the development of the placenta and fetal kidney. By gaining an understanding of how these organs are affected by prenatal insults, we are likely to be able to develop more effective intervention strategies to ensure all babies receive a healthy start to life.
Identification Of Genes Responsible For Disorders Of Sexual Development Using Genome-wide Copy Number Analysis
Funder
National Health and Medical Research Council
Funding Amount
$305,774.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.
Periconceptional Alcohol Exposure: Effects On The Embryo And Fetus And Disease Risk In Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$555,780.00
Summary
It is known that consuming large amounts of alcohol during pregnancy can have deleterious effects on fetal growth and development. Less is known about the effects of consumption of alcohol just around the time of conception. This project will use animal models to explore if alcohol can alter development of the very early embryo and whether this has long term consequences for the health of offspring after birth.
Developmental Functions Of A Novel Zinc-finger Protein
Funder
National Health and Medical Research Council
Funding Amount
$666,812.00
Summary
Diseases of the respiratory track and the immune system represent major public health burdens, from the common cold and lung cancer, to increased risk of infections and auto-immune diseases. We have identified a new gene that is essential for lung development, and required for normal development of antibody-producing immune cells. Here we want to define the mechanism by which this gene functions, in order to better understand how lungs and immune cells develop.
Mediator Kinase As A Therapeutic Target For Wnt/β-catenin Dependent Malignancies
Funder
National Health and Medical Research Council
Funding Amount
$949,907.00
Summary
Colorectal cancer is the third leading cause of cancer mortality in Australia and globally. The Wnt/?-catenin signalling pathway is a well established driver of colon cancer growth in >90% of cases. Using sophisticated genetic screens, we identified CDK8/19 as a colon cancer oncogene and critical regulator of Wnt/?-catenin activity. In this proposal, we will use innovative cancer models in mice and human cancer tissues to investigate newly developed CDK8/19 inhibitors for colon cancer therapy ....Colorectal cancer is the third leading cause of cancer mortality in Australia and globally. The Wnt/?-catenin signalling pathway is a well established driver of colon cancer growth in >90% of cases. Using sophisticated genetic screens, we identified CDK8/19 as a colon cancer oncogene and critical regulator of Wnt/?-catenin activity. In this proposal, we will use innovative cancer models in mice and human cancer tissues to investigate newly developed CDK8/19 inhibitors for colon cancer therapy.Read moreRead less