Functional Analysis Of Recently Identified Novel Glaucoma Genes.
Funder
National Health and Medical Research Council
Funding Amount
$519,918.00
Summary
Glaucoma is the commonest cause of irreversible blindness in the world. Recently, through genetic studies in cohorts of blinding glaucoma cases from Australia, our group has found that variants in two genes increase the risk of blinding glaucoma. This project will investigate how these genes contribute to pathological changes in the optic nerve and retina, at the back of the eye, that lead to glaucoma. This knowledge will be useful for developing new strategies to treat glaucoma.
Functional Restoration Of OTC Deficient Primary Human Hepatocytes In A Xenograft Model Using An AAV Vector Uniquely Configured For Impending Clinical Trial Use.
Funder
National Health and Medical Research Council
Funding Amount
$235,525.00
Summary
The aim of this project is to acquire preclinical data which will underpin an international gene therapy trial for severe ornithine transcarbamylase (OTC) deficiency, the most prevalent urea cycle defect in infants and children. In most severe cases, liver transplantation is required for long term survival. We, with colleagues at Stanford University, have recently developed a novel gene therapy tool for optimal targeting of human liver cells which will be tested in a humanised mouse model.
Minimally-invasive Gene Delivery Of A Novel Inhibitor Of Retinal Angiogenesis
Funder
National Health and Medical Research Council
Funding Amount
$883,883.00
Summary
Excessive growth of blood vessels in the eye causes vision loss and can only be treated with lasers or painful and frequent injections into the eye. Vasostatin is a specific inhibitor of angiogenesis and a promising agent for the management of ocular neovascularisation. We will provide pre-clinical evidence that gene delivery of vasostatin-like peptides is an effective therapeutic strategy and it has potential to revolutionize the current ophthalmic care of age-related macular degeneration.
Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
Regulating Gene Expression Changes In Cardiac Hypertrophy
Funder
National Health and Medical Research Council
Funding Amount
$690,754.00
Summary
Following the success in decoding human genome, i.e. DNA sequence, a major task is to understand how the activity of genes with consequent changes in respective proteins. As proteins are an important component for cell structure and function, such changes in quantity and quality of proteins will play a pivotal role to affect disease development and progression.
Identification Of Protein Altering Variants Influencing Preeclampsia Risk
Funder
National Health and Medical Research Council
Funding Amount
$572,014.00
Summary
Preeclampsia is a common and serious pregnancy disorder for which there is currently no early diagnostic test or cure other than delivery. It is also associated with later life cardiovascular disease. The identification of gene mutations for preeclampsia in this study will provide insight into the cause of this disorder that may lead to new treatments and tests to predict those women at risk.
Identifying Disease Genes For Neurogenetic Disorders Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$2,523,023.00
Summary
This project aims to identify novel disease genes, in other words, find genes, which have not previously been shown to cause human diseases when they are mutated. The collaborating laboratories on the project in Perth, Sydney, Melbourne and Boston, USA have a successful history in working together in finding human disease genes, harnessing, in the last few years, the now readily available power of next generation DNA sequencing to accelerate disease gene discovery.
Neuromuscular Disorders: Gene Discovery And Disease Mechanism
Funder
National Health and Medical Research Council
Funding Amount
$880,569.00
Summary
Inherited muscle disorders lead to lifelong disability and early death. Less that 50% of patients get an accurate diagnosis and there are currently no effective therapies. In this project, two leading Australian laboratories will use state-of-the-art methods to identify novel disease genes and how they cause muscle weakness. This research will have immediate outcomes to diagnosis, management and prevention and for the development of new therapeutic agents.
Molecular Control Of Interneuron Development And Function In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$527,828.00
Summary
This project will study the changes that occur in neurons, during normal brain maturation and in pathology. We hypothesise that early signs of brain malfunction can be detected in neurons before symptoms appear. The role of a gene will be studied during development and disease in a mouse model of autism, in order to identify the molecular and electrical signs of abnormal activity. This research will ultimately enable us to propose new strategies to treat symptoms of brain disease.
FOXP3 Regulated MicroRNAs: A Novel Component Of FOXP3 Tumour Suppressor Function In Breast Epithelial Cells.
Funder
National Health and Medical Research Council
Funding Amount
$554,716.00
Summary
Until there is a cure, breast cancer research must continue to discover new targets for therapy. We have novel insight into a new tumour supressor; FOXP3, and have identified the genes it regulates in T cells. We can now apply this information to normal breast tissues to reveal the mechanism and targets that FOXP3 controls to prevent cancer