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.
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.
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.
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.
Predicting Obstructive Sleep Apnoea Using 3D Craniofacial Photography
Funder
National Health and Medical Research Council
Funding Amount
$424,715.00
Summary
Sleep Apnoea is a common medical condition associated with snoring and collapse of the throat during sleep. Diagnosis of sleep apnoea involves an overnight sleep study in a specialised laboratory, which is expensive and time consuming. It is possible that sleep apnea could be diagnosed from a 3-dimensional photograph of the face. This study will define the relationships between sleep apnea and 3D face photographs in 956 young adults and 1,200 of their parents, and 3,000 sleep clinic patients.
Defining The Role Of Nedd4 In Neural Crest Cell Development
Funder
National Health and Medical Research Council
Funding Amount
$541,565.00
Summary
Neural crest cells are specialised stem cells that give rise to many tissues and organs during embryonic development. We recently identified an essential role for a regulatory protein in neural crest cells. Our research is aimed at understanding how this protein influences the growth of structures such as the heart and facial skeleton. Understanding these processes underpins the ultimate goal of implementing diagnostic and preventative medicine for highly prevalent congenital birth defects.
Identifying Strategies To Improve Perinatal Outcomes After Assisted Conception
Funder
National Health and Medical Research Council
Funding Amount
$724,799.00
Summary
Around 20% of young women express concern with being able to conceive, 16% experience clinical infertility, and ~8% use invasive therapies for which there can be limited safety data. We, and others, have reported adverse events for mother and child after infertility treatment, including neonatal death and birth defects. This project will provide urgently needed, robust evidence to guide patient and clinical decision making so as to optimise health of mother and baby.
Mobilisation Of Endogenous Mesenchymal Progenitor Cells For Growth Plate Regeneration
Funder
National Health and Medical Research Council
Funding Amount
$605,251.00
Summary
Growth plate cartilage is responsible for bone growth in children. Its injury is common and is often repaired undesirably by bony tissue which causes significant bone growth defects. This project will develop a biological treatment through mobilising endogenous progenitor cells to enhance growth plate regeneration and prevent bone growth defects, which will allow patients to avoid highly invasive/costly corrective surgeries.
Defining The Role Of VEGF And Vascular Formation In Craniofacial Development
Funder
National Health and Medical Research Council
Funding Amount
$636,417.00
Summary
Aberrant neural crest cell development gives rise to common congenital malformations such as cleft lip and/or palate and cardiac outflow tract defects that effect over 1% of all births. As the aetiology of these disorders are largely unknown it is critical to understand the cell and molecular mechanisms coordinating NCC development such that alternative therapies may be devised to target the underlying pathological defects and to provide definitive diagnostic / prognostic tools.
Pre-clinical Validation Of A Novel Implant For Bone Tissue Engineering
Funder
National Health and Medical Research Council
Funding Amount
$435,767.00
Summary
The aim of this grant to was examine a new method for manufacturing implants to improve repair of critical bone defects. It involves new technology for the manufacture of porous scaffolds and testing their delivery in a biological, bone repair setting.