The Role Of The Zinc Finger Transcriptional Repressor Znf238 During Nerve Cell Maturation
Funder
National Health and Medical Research Council
Funding Amount
$394,264.00
Summary
Proper foetal brain assembly is critical for brain function, but the underlying genetic mechanisms remain poorly defined. In this study, I will investigate a family of proteins that “turn on” neural gene expression in combination with another protein that “turns off” their expression during nerve cell development. Understanding this novel on/off mechanism for controlling gene expression in newborn nerve cells will further our understanding of how the brain is assembled.
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
Prenatal Origins And Health Outcomes Of Male Reproductive Congenital Anomalies Diagnosed At Birth And Testicular Cancer In Adulthood
Funder
National Health and Medical Research Council
Funding Amount
$234,343.00
Summary
There is growing concern in increasing male reproductive congenital anomalies diagnosed at birth & testicular cancer in adulthood. Research suggests these conditions share a common origin due to disruption in the release of male hormones in early pregnancy. This study will use a novel method of record-linkage to investigate maternal and infant risk factors and their combined effect on male reproductive disorders at birth and later in life; & assess long-term health and fertility of these males.
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.
Mature red cells develop from hemopoietic stem cells in the adult bone marrow. The production of red blood cells is primarily controlled by the hormone erythropoietin (Epo). Previously we had identified that the protein Lyn must be present inside primitive red blood cells for Epo to stimulate them to become mature functional cells. We will determine the role of several molecules that interact with Lyn including Cbp, Liar and LACM, towards apects of red blood cell development.
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.
Erythroid Molecular Cascades Involving The Tyrosine Kinase Lyn
Funder
National Health and Medical Research Council
Funding Amount
$496,500.00
Summary
Mature red and white cells develope from hemopoietic stem cells in the adult bone marrow. The production of red blood cells is primarily controlled by the hormone erythropoietin (Epo). The availability of this hormone in a recombinant form has aided in the treatment of numerous forms of anaemia resulting from kidney failure, malignancies, and AIDS. Previously we had identified that the protein Lyn must be present inside primitive red blood cells for Epo to stimulate them to become mature functio ....Mature red and white cells develope from hemopoietic stem cells in the adult bone marrow. The production of red blood cells is primarily controlled by the hormone erythropoietin (Epo). The availability of this hormone in a recombinant form has aided in the treatment of numerous forms of anaemia resulting from kidney failure, malignancies, and AIDS. Previously we had identified that the protein Lyn must be present inside primitive red blood cells for Epo to stimulate them to become mature functional cells. Recently, we have demonstrated that mice lacking the Lyn gene develope major problems with their red blood cells. We have identified several molecules which interact with Lyn in red blood cells. We have shown that a molecule called Cbp is important for Epo function in individual red blood cells and now we plan to investigate its function in whole animals. We have shown that a new molecule called Arp is important for red blood cell development. This protein moves in and out of the nucleus (where DNA is stored) and may be important in the regulation of genes needed for red blood cells. The third gene (AFAPbeta) is also novel and is closely related to another called AFAP-110, which can exert effects on the structure of a cell. Since red blood cells have to shrink considerably during their development, the role of AFAPbeta on red blood cell structure will also be investigated. From these experiments we should develop a much better understanding of how the production of red blood cells is controlled and how diseases of red blood cells (such as anaemia) occur.Read moreRead less
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