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
Synchrotron X-ray Assessment Of Airway Surface Physiology For Cystic Fibrosis
Funder
National Health and Medical Research Council
Funding Amount
$778,228.00
Summary
We seek a cure or long-lasting therapy for the fatal airway disease in cystic fibrosis. Disease is caused by a shallow and dehydrated airway surface liquid (ASL), allowing bacteria to infect the lung. We can introduce a corrective gene into mouse airways where it can be effective for over 1 yr, but no fast, accurate and non-invasive measurement exists to test if treatments are successful. We will develop methods using synchrotron light to directly measure ASL depth changes in live mouse airways.
How Does Dietary Cholesterol Induce Non-alcoholic Steatohepatitis?
Funder
National Health and Medical Research Council
Funding Amount
$802,600.00
Summary
Non-alcoholic fatty liver disease is the most common liver disease that can progress to non-alcoholic steatohepatitis (NASH), cirrhosis and liver cancer. Dietary cholesterol is a major risk factor for NASH. We can demonstrate that cholesterol changes the gut bacteria. These bacteria generate toxic chemicals (bile acids) that signal to the liver and induce NASH. In this project, we use novel ways to clarify the mechanisms of liver inflammation and test novel therapeutic approaches to reverse it.
Burden Of Rheumatic Heart Disease (RHD) And Impact Of Prevention Strategies: Comprehensive Evidence To Drive The RHD Endgame
Funder
National Health and Medical Research Council
Funding Amount
$960,655.00
Summary
Rheumatic heart disease is chronic damage to the heart valves caused by repeated bouts of acute rheumatic fever. Both are preventable, yet rates among Indigenous Australians are of the highest recorded. We propose to undertake the first multi-jurisdictional study of these conditions to determine trends in occurrence and evaluate the impact of existing interventions in Australia. Findings will be used to inform the development of a roadmap to remove RHD as a public health problem in Australia.
Management Of Breathlessness. Cognitive Behavioural Therapy For People With Chronic Obstructive Pulmonary Disease (BREVE RCT)
Funder
National Health and Medical Research Council
Funding Amount
$402,875.00
Summary
For people with chronic lung disease, breathlessness is common, distressing and difficult to relieve. Pulmonary rehabilitation programs have been demonstrated to improve exercise capacity and quality of life. This study will determine whether changing the way people think about the sensation of breathlessness while completing pulmonary rehabilitation, further reduces distress/anxiety and health service use and improve exercise capacity, disability related to breathlessness and quality of life.
CENTRE OF RESEARCH EXCELLENCE TO REDUCE INEQUALITY IN HEART DISEASE
Funder
National Health and Medical Research Council
Funding Amount
$2,607,253.00
Summary
There is increasing recognition of a societal responsibility to provide effective and sustainable health care to the entire population and not just to selected parts. Indigenous and regional Australians are most affected by Australia's biggest killer - heart disease. In response, the CRE to Reduce Inequality in Heart Disease, is a national collaboration of researchers from a range of health disciplines. Together they aim to address this problem by developing sustainable and cost-effective health ....There is increasing recognition of a societal responsibility to provide effective and sustainable health care to the entire population and not just to selected parts. Indigenous and regional Australians are most affected by Australia's biggest killer - heart disease. In response, the CRE to Reduce Inequality in Heart Disease, is a national collaboration of researchers from a range of health disciplines. Together they aim to address this problem by developing sustainable and cost-effective health care services.Read moreRead less
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.
Understanding The Experience Of Making Decisions For Persons With Dementia And Their Carers
Funder
National Health and Medical Research Council
Funding Amount
$71,110.00
Summary
This project aims to explore concepts of value, meaning, and experience of the diagnosis amongst sufferers of dementia through discussion of their approach to making care decisions, and reflection on how this dialogue has been conducted with others. These concepts will be assessed from the perspective of diagnosed sufferers, their primary carers and their diagnosing doctors.
Health, Economic, Psychological And Social Impact Of Educating Carers Of Patients With Advanced Pulmonary Disease (APD)
Funder
National Health and Medical Research Council
Funding Amount
$605,452.00
Summary
Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified ....Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified difficulties experienced by caregivers of the elderly in general, very little research has been undertaken with carers of patients with APD. The study will compare the usual practice of educating patients with APD who commence home oxygen therapy (HOT), and their carers, against a more detailed and individually targeted education program that increases the skills of patients and carers. This study has the potential to reduce hospital-residential care readmission, reduce carer distress, improve patient outcomes, reduce adverse effects of oxygen therapy and medication use, and minimize inappropriate presentation to tertiary care emergency departments.Read moreRead less
A Randomised Controlled Trial Of A Nurse-led Intervention For Less Chronic Heart Failure: The NIL-CHF Study
Funder
National Health and Medical Research Council
Funding Amount
$1,166,160.00
Summary
The overall aim of the unique NIL-CHF Study is to examine the benefits of applying a specialist nurse-led, home and clinic-based intervention to optimise the care of recently discharged hospital patients with heart disease. Involving 950 patients, it will explore whether more flexible and individualised care to apply the best possible medical treatments is able to PREVENT the most deadly and disabling form of heart disease (chronic heart failure - CHF) and save money in the process.