Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
Improving Stroke Outcomes: Attenuating Progression And Recurrence
Funder
National Health and Medical Research Council
Funding Amount
$9,331,996.00
Summary
Stroke is the second most common cause of death and major cause disability. There are few proven interventions, so we need to introduce new ones. We developed a bench to bedside program to introduce new stroke therapies and its early secondary prevention. Our general goal is to provide evidence for their effectiveness and safety. We will use animal stroke models, markers in the blood to help diagnose and predict stroke outcome and imaging to help select patients for several clinical trials.
Identification And Characterisation Of Novel Genes For Congenital Cataract
Funder
National Health and Medical Research Council
Funding Amount
$432,750.00
Summary
Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Au ....Cataracts are the leading cause of blindness worldwide. The term describes a clouding of the lens which may lead to visual impairment. Congenital cataracts (present at birth) are less common than age-related cataract but the lifelong impact on vision can be severe, with a third of patients remaining legally blind. Late complications such as aphakic glaucoma may be blinding. We have shown that congenital cataracts are often inherited and have performed a population-based study in South-Eastern Australia over the past 5 years to determine the causative genes. A large number of families have been involved in the study and solid progress has been made in identifying mutations in cataract genes and understanding what effect these may have on the patient's prognosis. We have recently identified a new gene in a large Australian family with a syndrome of cataract, mental retardation and teeth problems. This syndrome, known as Nance-Horan syndrome was originally described in Australia 30 years ago and we have worked with the original family to find the exact gene responsible. We already know that this gene causes the same syndrome in other families and in this project we will examine whether it can cause cataract without the other features or mental retardation without cataract. We will perform a series of experiments to learn what this gene does and how it causes the disease. We have also selected 3 other very interesting families with congenital cataracts for further study as we either know already or strongly suspect that they will enable us to identify further new genes for cataract, and in one case mental retardation. Our work in other diseases indicates that understanding the genes in severe young onset cases can give valuable clues to the causes of age-related forms and may in the future enable new ways to prevent and treat the commonest cause of worldwide blindness.Read moreRead less
Understanding And Ameliorating The Human Health Effects Of Exposure To Air Pollution: From Knowledge To Policy And Public Health Practice
Funder
National Health and Medical Research Council
Funding Amount
$2,584,848.00
Summary
Urban consolidation and sprawl, traffic congestion, mining, climate change, heating and cooling living environments, and power generation – these manifestations of modernity produce regular headlines. Air pollution and its effects on human health are the focus of much popular concern. This CRE will build an integrated research capacity in the field of air pollution and its effects on human health that will allow Australia to address these major challenges - now and in the future.
Energy Transitions, Air Pollution And Health In Australia
Funder
National Health and Medical Research Council
Funding Amount
$2,491,229.00
Summary
Emissions from burning biomass (including fossil fuels) are major features of our environment and are the 4th leading global risk factor for premature death. As countries shift their patterns of energy use in response to global warming, new challenges are emerging. Understanding this is crucial to our ability to maintain health and stability in uncertain times. This CRE will examine the health consequences of (1) fossil fuel combustion, (2) landscape fires and (3) alternatives to fossil fuels.
From The Synchrotron To The Clinic: Translation Of A Novel Functional Lung Imaging Technology
Funder
National Health and Medical Research Council
Funding Amount
$891,834.00
Summary
Our team has recently developed a synchrotron technology with a startling capacity for dynamic functional imaging that can act as a sensitive regional indicator of lung disease. We will demonstrate that this technology can be translated from the synchrotron to the lab and eventually the clinic. We will provide proof of this concept by the application of this technology to emphysema, asthma, lung cancer, cystic fibrosis lung disease and neonatal resuscitation.
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.
Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less