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.
Investigating The Genetic Cause Of Genital Abnormalities In Males
Funder
National Health and Medical Research Council
Funding Amount
$299,564.00
Summary
This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.
An Exploration Of Cerebral Palsy Aetiology: Assisted Reproductive Technology And Congenital Anomalies
Funder
National Health and Medical Research Council
Funding Amount
$89,420.00
Summary
Cerebral palsy (CP) is the most common physical disability of childhood, describing a group of permanent disorders of movement caused by damage to the developing brain. The causes of CP are poorly understood for most people. This study will explore and quantify the impact of two known risk factors on CP: assisted reproductive technology and congenital anomalies. When these causes of CP are better understood, possibilities for prevention of this disability can be sought.
The Role Of The MYST Family Transcriptional Co-activator, Mof, In Embryonic Development
Funder
National Health and Medical Research Council
Funding Amount
$319,446.00
Summary
A major task in biology is to understand how the human genome directs the development of a single cell to form an entire individual. Clearly, a large part of this task is to understand how the expression of genes is regulated during embryonic development. Gene expression requires co-activator complexes. Co-activator complexes typically contain proteins which regulate the structure of chromatin (a complex of DNA and histones). However, the physiological function of most co-activators is entirely ....A major task in biology is to understand how the human genome directs the development of a single cell to form an entire individual. Clearly, a large part of this task is to understand how the expression of genes is regulated during embryonic development. Gene expression requires co-activator complexes. Co-activator complexes typically contain proteins which regulate the structure of chromatin (a complex of DNA and histones). However, the physiological function of most co-activators is entirely unclear. The aim of this project is to study the function of Mof during embryonic development. Mof is a co-activator that directly regulates chromatin structure by modifying histones. Mof is a member of the MYST family of co activators, which includes Moz and Qkf. We have recently shown that Moz and Qkf are essential for the haematopoietic stem cell population and the neural stem cell population, respectively. The purpose of this project is to produce a detailed analysis of the function of Mof in vivo and determine it's importance in regulating gene expression. All biological processes relay on accurate regulation of gene transcription and all diseases, whether they involve pathogens or cell intrinsic pathological changes, such as cancer, lead to changes in gene expression. Regulation of chromatin structure has been identified as a major mechanism of transcriptional regulation in health and disease. However, our understanding of the precise molecular mechanisms regulating chromatin structure in vivo are very limited. This work will fully investigate the role of an important co-activator in vivo including a mechanistic analysis. This will increase understanding of how gene expression is regulated and, ultimately, this knowledge will find wide application in the development of new treatment paradigms.Read moreRead less
The Role Of The MYST Family Lysine Acetyltransferase, Hbo1, In Development And In The Adult
Funder
National Health and Medical Research Council
Funding Amount
$403,368.00
Summary
This project will produce a detailed analysis of the function of Hbo1, a transcription factor, and determine its importance in regulating gene expression. All biological processes rely on accurate regulation of gene transcription and all diseases lead to changes in gene expression. This work will increase understanding of how gene expression is regulated and, ultimately, this knowledge will find wide application in the development of new treatment paradigms.
Population-based Data Linkage To Investigate The Health And Development Of Children Born After IVF
Funder
National Health and Medical Research Council
Funding Amount
$321,972.00
Summary
In Australia 1 in 25 births are conceived from IVF treatment and this is increasing. My research program will use a comprehensive set of linked population data to address key questions in the IVF field following major changes to IVF practice in the last decade. This research (examining fetal growth, birth defects, intellectual disability and school achievement) has the potential to influence clinical practice and will greatly improve the information available for pre-treatment counselling.
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