Transcriptional Control Of Blood Vessel Development By Sox18
Funder
National Health and Medical Research Council
Funding Amount
$468,564.00
Summary
Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of ....Blood vessels play an essential role in maintaining the supply of nutrients to every organ and tissue in the body. Improper development of blood vessels in the embryo can compromise survival of the embryo, and defects in the ability of blood vessels to grow, regenerate and adapt to change during adult life can be life-threatening. The growth of new blood vessels (angiogenesis) is also an important factor in the ability of solid tumours to grow during the progression of cancer. It is therefore of fundamental importance in the health sciences to gain an understanding of how blood vessels form and regenerate. As a result of our collaborative research efforts, we have discovered a gene, Sox18, that appears to regulate blood vessel development by controlling the formation and-or behaviour of endothelial cells, which line the blood vessels and make them impermeable. Our research so far indicates that MICE WITH DEFECTS IN SOX18 DIE FROM VASCULAR DEFECTS, underlining the importance of this gene. THIS PROJECT IS CONCERNED WITH FINDING OUT HOW SOX18 WORKS - exactly what goes wrong in mice lacking this gene, whether Sox18 can influence endothelial cell behaviour in cell culture, how Sox18 comes to be active in endothelial cells, what genes are switched on by Sox18, and what genes Sox18 co-operates with in its role in endothelial cells. The answers to these questions will not only provide fundamental basic information about how blood vessels development is controlled, but also sow the seeds for possible future therapies in which blood vessel development could be stimulated (eg in wound healing) or suppressed (eg in tumour progression) through pharmaceutical intervention.Read moreRead less
Identifying The Pathological Mechanism Of PCDH19-Girls Clustering Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$523,988.00
Summary
Changes in the PCDH19 gene are a relatively common cause of epilepsy. To better understand the basis of this disorder, we have developed unique mouse models that mimic the genetic changes and symptoms of this condition. We will perform careful analysis of brain development in these models to determine the primary cause of this condition. These experiments will create greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Understanding The Causes Of Childhood Congenital Anomalies Of The Kidney And Urinary Tract
Funder
National Health and Medical Research Council
Funding Amount
$609,748.00
Summary
Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified ....Congenital anomalies of the kidney and urinary tract (CAKUT) is a common cause of renal failure in children. The majority of patients with CAKUT do not know the underlying cause of their renal anomalies. In this proposal we will characterise the developmental events that are perturbed in three mouse models of CAKUT and identify the causal gene responsible in each mouse model. We will translate this information to the clinic by screening patients with CAKUT for mutations in these newly identified genes.Read moreRead less
The Transmission Of Perinatal Maternal Mental Health To Preschool Emotional Disorders: Examining Pathways And Intervention Points In The MPEWS Study
Funder
National Health and Medical Research Council
Funding Amount
$970,795.00
Summary
While it is known that depression, anxiety and stress in pregnancy increase the risk for poorer child mental health, what is unknown is the key pathways and intervention points to prevent this transmission of risk. This study will examine potential mechanisms and intervention points through a selected cohort study: Mercy Pregnancy and Emotional Wellbeing Study. This study follows 500 women and their children from first trimester in pregnancy until the children are 3 years of age.
Genome-wide Association Study (GWAS) For Juvenile-onset Myopia And Its Component Measures To Identify Molecular Pathways To Prevent Myopia
Funder
National Health and Medical Research Council
Funding Amount
$495,364.00
Summary
We will examine 2,000 young adults from the Western Australian Raine Cohort at the Lions Eye Institute / University of Western Australia. Ocular data will be collected relating to myopia (short-sightedness) and will be combined with extensive previous childhood and genetic research data collected on the Cohort, to investigate the genetic and environmental factors predisposing to myopia. This will assist in understanding the factors leading to myopia.
Evolution of the dermomyotome in vertebrates. The project seeks to understand how different muscle populations within the embryo form and have evolved within the vertebrate phylogeny. All amniote muscles, except that of the head, derive from a transient embryonic structure termed the dermomyotome. The formation of muscle from the dermomyotome of amniotes uses a highly conserved mechanism that is distinct from that deployed by bony fish and amphibians. How the dermomyotome evolved to generate th ....Evolution of the dermomyotome in vertebrates. The project seeks to understand how different muscle populations within the embryo form and have evolved within the vertebrate phylogeny. All amniote muscles, except that of the head, derive from a transient embryonic structure termed the dermomyotome. The formation of muscle from the dermomyotome of amniotes uses a highly conserved mechanism that is distinct from that deployed by bony fish and amphibians. How the dermomyotome evolved to generate the distinct types of locomotor systems we see deployed throughout the vertebrate phylogeny remains unresolved. This project aims to contribute to an understanding of how different locomotor strategies deployed at important evolutionary transitions were generated.Read moreRead less
Motor coordination in infancy and its relationship to motor and psychosocial development in childhood. Few studies have examined the impact of early motor development on later development, even though there is evidence to show that these early movements influence later motor ability. Motor development can also impact on cognitive, emotional and social development. The current study has data on early motor ability in over 90 infants which includes children at risk of developmental disorders. We ....Motor coordination in infancy and its relationship to motor and psychosocial development in childhood. Few studies have examined the impact of early motor development on later development, even though there is evidence to show that these early movements influence later motor ability. Motor development can also impact on cognitive, emotional and social development. The current study has data on early motor ability in over 90 infants which includes children at risk of developmental disorders. We will carry out a longitudinal investigation of the relationship between early motor development in infancy on motor and psychosocial development in childhood. The results will provide information on early markers for developmental disorders and appropriate intervention techniques than can be initiated in infancy. Read moreRead less
Technology is changing the lives of Australians. We need to understand the impact on health to gain the benefits with minimal harm. This fellowship will support a program of internationally leading research drawing together ergonomics, physiotherapy and physical activity expertise. Example projects include the impact of electronic games on children’s activity, walking workstations to increase physical activity of office workers and a family-based program for overweight adolescents.
Protect, prepare and engage: Does extracurricular activity participation offer sustained benefits for youth? Organized extracurricular activities such as sport and music have the potential to promote healthy development and to reduce the levels of risk behaviours in teenagers. However, current research evidence, often based on middle-class youth in the US, is inadequate for making policy recommendations for improvement to the after-school lives of Australian youth. This study will offer insight ....Protect, prepare and engage: Does extracurricular activity participation offer sustained benefits for youth? Organized extracurricular activities such as sport and music have the potential to promote healthy development and to reduce the levels of risk behaviours in teenagers. However, current research evidence, often based on middle-class youth in the US, is inadequate for making policy recommendations for improvement to the after-school lives of Australian youth. This study will offer insight into the long-term benefits of making a diverse selection of organised activities available to Australian teenagers, and will improve our understanding of which aspects of participation are most likely to enhance their social and educational opportunities.Read moreRead less