Alternative Splicing- A Regulatory Mechanism Determining Self-renewal And Pluripotency Of ES And IPS Cells
Funder
National Health and Medical Research Council
Funding Amount
$664,650.00
Summary
Stem cells hold great promise in cell replacement therapies and may provide models to study human diseases and to screen new pharmaceuticals. For successful future therapeutic applications, a deeper understanding of the molecular mechanisms governing the behavior of stem cells is crucial. In this proposal we will investigate the role of alternative splicing in the control of the fundamental properties of stem cells, and identify target RNAs and gene expression networks regulated by splicing fact ....Stem cells hold great promise in cell replacement therapies and may provide models to study human diseases and to screen new pharmaceuticals. For successful future therapeutic applications, a deeper understanding of the molecular mechanisms governing the behavior of stem cells is crucial. In this proposal we will investigate the role of alternative splicing in the control of the fundamental properties of stem cells, and identify target RNAs and gene expression networks regulated by splicing factors.Read moreRead less
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 individualÍs 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.
Characterising The Novel Signalling Mechanism For A New Interferon
Funder
National Health and Medical Research Council
Funding Amount
$525,485.00
Summary
We have discovered a new regulatory protein called interferon epsilon, made in the female reproductive tract and is crucial for protection against bacterial( Chlamydia) and viral (Herpes Simplex Virus) infections. However, we are yet to understand how it interacts with target cells. This grant will study how IFN? binds to cells and the nature of the signals it transmits. This will help us understand its role in disease and its clinical potential
Nocturnin: A Post-transcriptional Regulator Of Circadian Fat Metabolism
Funder
National Health and Medical Research Council
Funding Amount
$574,696.00
Summary
Our metabolism is aligned with the 24-hour rotation of the earth in what is termed the circadian clock. Being misaligned to this clock explains jetlag and the poor health associated with shift-workers. For example, whether fat is utilised or stored depends on the time of day. This study aims to investigate the post-transcriptional mechanisms that underpin the rhythmic changes that occur throughout our bodies to ensure that our metabolism is matched to our environment.
The 3’ UTR Codes That Control MRNA Translation In Development
Funder
National Health and Medical Research Council
Funding Amount
$609,281.00
Summary
We are the product of an exquisite programme that controls when and where genes are turned on and off, over time, from a single cell to adulthood. This project concerns codes that regulate this programme with a focus on early development, the germline and neuronal cells. Using the same technology that now allows individuals to sequence their own genome, we will study an aspect of this timing in model organisms having genetic lesions in specific pathways that relate also to human health and disea ....We are the product of an exquisite programme that controls when and where genes are turned on and off, over time, from a single cell to adulthood. This project concerns codes that regulate this programme with a focus on early development, the germline and neuronal cells. Using the same technology that now allows individuals to sequence their own genome, we will study an aspect of this timing in model organisms having genetic lesions in specific pathways that relate also to human health and disease.Read moreRead less