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.
Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.
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
Axon Degeneration And Axon Protection In CNS Disease And Injury
Funder
National Health and Medical Research Council
Funding Amount
$389,120.00
Summary
One of the major reasons for the clinical symptoms of neurological diseases such as Alzheimer’s disease and Motor Neuron Disease is the loss of connections between the nerve cells. Nerve cells are connected by specialized processes called axons. In disease these processes can breakdown. This project specifically looks at how axons break down in disease and tests therapeutic strategies to protect them.
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.
The Role Of Central Haemodynamics In Type 2 Diabetes Mellitus-related Brain Disease
Funder
National Health and Medical Research Council
Funding Amount
$899,704.00
Summary
Type 2 Diabetes Mellitus is associated with stiffening of major blood vessels which may allow the transmission of harmful pressure to the small vessels of the brain. This may in turn be responsible for damage to brain cells and a greater risk of dementia. This study will use state-of-the art techniques to test this theory. If true, it may open opportunities to reduce the risk of brain disease in diabetes by using therapies to reduce arterial stiffening.
The Role Of Excitotoxicity In Mediating Distal Axonal Degneration In ALS
Funder
National Health and Medical Research Council
Funding Amount
$392,952.00
Summary
Amyotrophic lateral sclerosis (ALS), the major cause of motor neuron disease, is a devastating diseasse for which there is no cure. There have been significant advances in understanding the pathology of ALS yet we still don’t know what causes the dying back of spinal motor neurons. We have new evidence that suggests that ALS may, in part, be caused by excitotoxcity - or over stimulation - of neurons in the spinal cord. We will follow this lead using a range of cutting edge experimental models.
The Tasmanian Healthy Brain Project: A Longitudinal Intervention Study To Reduce The Risk Of Ageing-related Cognitive Decline And Dementia
Funder
National Health and Medical Research Council
Funding Amount
$878,792.00
Summary
It has been proposed that engagement in purposeful complex mental stimulation provides protection against dementia. The Tasmanian Healthy Brain Project (THBP) is a unique, large-scale prospective trial that examines whether university-level study in older adult population reduces ageing-related cognitive decline and risk of dementia. This project will also examine how an individual’s genetic profile may influence the potential benefits of complex mental stimulation as well as risk of dementia.
Identifying genes that influence clinical course and susceptibility in multiple sclerosis. This project aims to identify the genetic basis of multiple sclerosis (MS), the most common neurologic disease in young Australian adults. MS urgently needs research to identify predisposition, aid early diagnosis and provide bona fide molecular targets for new therapies. This will benefit people with MS and those susceptible to it. Crucial new knowledge identified will benefit other major areas of MS rese ....Identifying genes that influence clinical course and susceptibility in multiple sclerosis. This project aims to identify the genetic basis of multiple sclerosis (MS), the most common neurologic disease in young Australian adults. MS urgently needs research to identify predisposition, aid early diagnosis and provide bona fide molecular targets for new therapies. This will benefit people with MS and those susceptible to it. Crucial new knowledge identified will benefit other major areas of MS research including epidemiology, immunology and neurobiology. Collaboration of 8 major Australian institutions is also important for this project and future studies. The team will have access to a new national MS GeneBank (platform) with samples from 2240 patients that should generate findings important to world-wide MS genetic knowledge.Read moreRead less
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.