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.
An Examination Of The Relationship Between Alcohol-related Injury (ARI) And Licensed Premises
Funder
National Health and Medical Research Council
Funding Amount
$78,686.00
Summary
There is growing interest in acute alcohol-related problems, and especially injuries. These are often experienced by young people, frequently as a consequence of intoxication or drinking in unsafe settings. Little work has been undertaken in Australia to systematically examined alcohol-related injuries (ARIs). This study will examine ARIs, identify the frequency with which such problems present to a local hospital, record the nature of the injuries, details of the person sustaining it, and the d ....There is growing interest in acute alcohol-related problems, and especially injuries. These are often experienced by young people, frequently as a consequence of intoxication or drinking in unsafe settings. Little work has been undertaken in Australia to systematically examined alcohol-related injuries (ARIs). This study will examine ARIs, identify the frequency with which such problems present to a local hospital, record the nature of the injuries, details of the person sustaining it, and the drinking location. Characteristics of drinking locations and drinking settings, in particular licensed premises, will be examined to determine their association with ARIs. Then an intervention will be undertaken in conjunction with local police, to address the conditions of the drinking environment with the aim of reducing ARIs and other alcohol-related problems stemming from licensed premises. The intervention will form part of a randomised controlled trial where licensed premises, identified through monthly police data as hot spots, receive either an intervention or act as a control. In the following month, controls receive the intervention (a cross-over design). The intervention was established in 1998 by Gold Coast police and involves police, fire and liquor licensing officers undertaking an on-site inspection and taking prescribed actions. It is hypothesised that this action should result in a decreased level of ARIs being generated from premises which receive the intervention, compared to those that do not. This is an intersectoral, collaborative project aimed at improving community safety through a concerted effort by police, health and the licensees.Read moreRead less
Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
MICROFABRICATED DEVICES: A SIGNIFICANT ADVANCE FOR THE DETECTION AND MOLECULAR ANALYSES OF CIRCULATING CANCER CELLS?
Funder
National Health and Medical Research Council
Funding Amount
$422,107.00
Summary
Using advanced microfabrication concepts, this project aims to develop a platform technology able to capture tumour cells circulating in the blood of cancer patients. Although present only in extremely small numbers, these cells provide invaluable insights into the pathophysiology of the disease and consequently provide vital diagnostic and prognostic information. Molecular analyses of these cancer cells could ultimately enable the design of improved and personalized cancer treatment.
The Role Of Arousal And Diaphragm Displacement In The Pathogenesis Of Obstructive Sleep Apnoea
Funder
National Health and Medical Research Council
Funding Amount
$410,875.00
Summary
Obstructive sleep apnea (OSA) affects 4% of men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease e.g. heart attacks and strokes. OSA is characterized by repetitive obstructions of the floppy portion of the throat during sleep with adverse effects on oxygen levels and sleep quality. OSA is strongly associated with obesity and is 2-3 times more common in men than women. How obesity and male gender predispose to OSA is ....Obstructive sleep apnea (OSA) affects 4% of men and causes excessive daytime sleepiness leading to increased accidents, high blood pressure and premature cardiovascular disease e.g. heart attacks and strokes. OSA is characterized by repetitive obstructions of the floppy portion of the throat during sleep with adverse effects on oxygen levels and sleep quality. OSA is strongly associated with obesity and is 2-3 times more common in men than women. How obesity and male gender predispose to OSA is not known. We will investigate two factors that we believe are most likely involved in causing and explaining this gender difference in OSA. We will examine if breathing responses with brief awakening are sufficient to promote OSA patterns of breathing in snorers and if they are greater in male than female OSA patients. We have already shown that healthy men have greater breathing response to arousal compared to women. These brief arousals occur hundreds of times a night in OSA patients, and over-breathing on arousal may increase the probability of upper airway obstruction on falling back to sleep. We will also investigate why even healthy men show greater breathing responses compared to women. Men tend to accumulate fat centrally, particularly in the abdomen, whereas in women fat tends to be distributed more to the hips and thighs. This could be very important in OSA because downward pull exerted on the upper airway by the diaphragm is likely to be reduced in people with more abdominal obesity. This mechanisms has not yet been studied in humans. We will therefore investigate if increased forces placed on the diaphragm during sleep make the upper airway more prone to collapse. We will also investigate these effects during sleep onset, when there may well be important changes in diaphragm position as muscles relax.Read moreRead less
Randomised Double-blind Controlled Trial Of Oxygen Versus Air To Palliate Intractable End-of-life Dyspnoea When Pa02 >55
Funder
National Health and Medical Research Council
Funding Amount
$463,318.00
Summary
Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patie ....Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patients would most benefit from it. Because of this lack of evidence, oxygen is only funded in Australia in community settings for people who have severely low oxygen levels in their blood. Palliative oxygen is provided on a compassionate basis at times but this is on an ad hoc basis and does not ensure equitable access for people at the end of life who experience shortness of breath. This multi-centre study will compare oxygen and air, with neither the participant nor caring clinicians knowing which treatment they will receive. After careful explanation, volunteers who agree to participate will be asked to use the oxygen machine for at least 15 hours each day for 7 days and fill out a diary twice each day. Five centres across Australia are planning to enroll 240 participants in this study. Outcomes will include whether the sensation of breathlessness has improved, the overall quality of life while being treated, the ability to perform activities of daily living and any side effects experienced. This study is eagerly awaited by clinicians and health planners not only in Australia but in North America and Europe. This study will provide data in a long-standing international debate about the role of oxygen in people with relatively normal levels of oxygen in their blood who suffer from shortness of breath at the end-of-life.Read moreRead less
Development Of Diagnostic Tools To Characterise Predictors Of Therapeutic Outcome In Severe Constipation
Funder
National Health and Medical Research Council
Funding Amount
$433,999.00
Summary
This project will use fibre-optic technology to create detailed high resolution maps of colonic motor patterns in both health and in patients with severe constipation. The data will be used in combination with actual patient symptoms to help identify specific markers of disease that can differentiate sub-types of constipation and ultimately guide and improve treatment in constipated patients
Regulation Of Key Pathways Causing Peri-implant Bone Loss.
Funder
National Health and Medical Research Council
Funding Amount
$403,639.00
Summary
The failure of bone prostheses is becoming a major health problem in our aging population. Despite the impressive success of joint replacement surgery, a significant number of arthroplasties fail. It is now apparent that most implants fail due to bone loss around them which leads to loosening. This project aims to obtain a better understanding of the causes of implant failure and find ways to extend the life of these implants .
Effects Of The Fatty Acid, Lauric Acid, On Energy Intake And Gut Motor And Hormonal Function In Health And Obesity
Funder
National Health and Medical Research Council
Funding Amount
$744,645.00
Summary
Obesity is largely due to energy intake exceeding energy expenditure, thus, strategies that reduce energy intake will result in weight loss. We discovered recently that the fatty acid, lauric acid, markedly reduces energy intake. Our studies will determine the effects of lauric acid on energy intake and body weight reduction in obese subjects. The research is a new initiative and explores the potential of lauric acid as a novel, nutrient-based and side-effect free approach to obesity management.
Radiostereometric Analysis Of The Effect Of A Large Articulation On Prosthetic Wear And Migration After Hip Replacement
Funder
National Health and Medical Research Council
Funding Amount
$192,186.00
Summary
At total hip replacement, there has been a recent trend to use prostheses with a larger ball and liner in the socket. This may decrease the risk of post-operative dislocation, but may also increase the amount of wear, leading to bone loss and loosening of prostheses, which may then require replacement. This project will use a special type of x-ray to determine whether wear and movement of these new prostheses is clinically acceptable, so that they can be used with confidence in patients.