Preventing Blindness: Blocking TGF¤-induced EMT And Cataract Development
Funder
National Health and Medical Research Council
Funding Amount
$343,824.00
Summary
Cataract, the loss of transparency of the eye lens, is a major cause of blindness. We have identified molecules in the lens important for maintenance of its transparency and plan to characterise their effectiveness in preventing cataract formation.
Most diseases are much more common in the elderly. The reasons are poorly understood. We have evidence that the most common eye diseases, cataract and presbyopia, are due to the fact that the large molecules that make up the lens do not turnover. In lenses of older people proteins, which make up the bulk of the transparent tissue, become degraded. It turns out that very long lived proteins are quite common in the body. This proposal seeks to determine what role degradation of these ancient prote ....Most diseases are much more common in the elderly. The reasons are poorly understood. We have evidence that the most common eye diseases, cataract and presbyopia, are due to the fact that the large molecules that make up the lens do not turnover. In lenses of older people proteins, which make up the bulk of the transparent tissue, become degraded. It turns out that very long lived proteins are quite common in the body. This proposal seeks to determine what role degradation of these ancient proteins has in other diseases of aging.Read moreRead less
The Role Of EphA2 Signalling And Environmental Modifiers In Cataract.
Funder
National Health and Medical Research Council
Funding Amount
$591,547.00
Summary
In cataract the clear lens in the eye becomes opaque causing blindness. Cataract is very common in the elderly, but is rarely also seen in babies and children. In babies certain gene defects, and in the elderly the genes and environmental factors contribute to cataract. The EPHA2 gene causes cataract in both young and old people. This project aims to understand how EPHA2 and other related genes cause cataract in young and old people, to prevent, delay or improve its treatment in the future.
Characterisation Of Eurl, A Novel Gene Implicated In The Etiology Of Abnormal Brain Development And Intellectual Disability
Funder
National Health and Medical Research Council
Funding Amount
$597,541.00
Summary
Intellectual disability affects around one per cent of Australians, and can arise from genetic abnormalities during fetal life, such as through abnormal regulation of gene expression. We have identified a novel gene, known as eurl, which controls brain assembly as well as the ability of neurons to form functional connections within the brain. We will investigate how this novel gene controls brain development, and characterise eurl as a potential therapeutic target for learning and memory.
Defining The Role Of The Ubiquitin Protein Ligase Nedd4 In Vascular Development.
Funder
National Health and Medical Research Council
Funding Amount
$702,166.00
Summary
Blood and lymphatic vessels are vital components of the cardiovascular system. Abnormalities in the growth and development of these vessels are associated with human disorders including cancer and cardiovascular disease. The focus of this application is to characterise the role of the ubiquitin protein ligase Nedd4 in vascular development, with the aim of identifying targets to which novel therapeutics for the treatment of blood and lymphatic vascular diseases could be generated.
Analysis Of Gene Regulation In Disorders Of Sex Development
Funder
National Health and Medical Research Council
Funding Amount
$524,852.00
Summary
Disorders of Sex Development (DSD) are surprisingly common, however the majority of cases still cannot be explained. Our hypothesis is that a significant proportion of DSD is due to disturbed gene regulation. We will use state of the art methods to analyse the regulation of DSD genes. Our research will improve our knowledge of the regulation of genes that affect DSD and provide a diagnosis for DSD patients for whom the underlying cause is unknown. This in turn will improve clinical management.
Muscle Fusion Defects May Be A Common Cause Of Human Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$391,419.00
Summary
While muscle fusion is a crucial step of muscle formation, it is surprising that human muscle diseases were never associated with muscle fusion defects. We have recently undertaken a genome-wide functional screen using a mouse muscle cell line. We identified 21 genes that were previously associated with muscle dystrophies in human. The aim of this project is to examine the role of those genes during muscle fusion in vivo, using the chick embryo, mouse mutants and lines from patients as models.
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.
Stress-induced Disease Risk For Pregnant Mothers Born Small
Funder
National Health and Medical Research Council
Funding Amount
$613,124.00
Summary
This proposal addresses the likelihood that mothers born small and exposed to stress during pregnancy will develop adverse physiological adaptations to pregnancy, slowing placental and fetal growth, programming intergenerational disease and compromising maternal health later in life. The outcomes from our human and rat studies will enable development of diagnostic tests to identify pregnancies at greater risk and lead to therapies to reduce adverse intergenerational and long-term health effects.
The Hippo Pathway, Neural Stem Cells And Brain Growth
Funder
National Health and Medical Research Council
Funding Amount
$363,137.00
Summary
During organism development, the brain grows to the right size without overgrowing. Neural stem cells are key regulators of brain size. We will define how the Hippo pathway crosstalks with nutrition-induced signals to control proliferation of neural stem cells and brain size. As well as producing important insights into normal growth, we will increase our understanding of brain diseases associated with aberrant brain growth, such as cancer.