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
Novel Retinal Architectural Vascular Signs And Risk Of Cardiovascular Disease: The AusDiab Study
Funder
National Health and Medical Research Council
Funding Amount
$754,254.00
Summary
Cardiovascular disease (CVD) and diabetes are major health problems. Identifying 'people at risk' is critical to design preventative strategies. We have developed new computer software to measure detailed characteristics of retinal vessels. By appling this system to predict CVD or diabetes in the AusDiab Study we aim to find 'the best combination of risk factors' to predict CVD and diabetes. This will open up the possibility of new risk assessment using a simple 'eye scan.'
Measuring The Productive Efficiency Of Hospitals - A Comparison Of Parametric And Non-parametric Approaches
Funder
National Health and Medical Research Council
Funding Amount
$61,815.00
Summary
In the face of rising health service costs, an ageing population, and falling private health insurance rates, the efficient use of scarce health service resources has become a central theme in health system reform. Productive (or technical) efficiency is a key aspect of health system reform - that given health services are produced with the minimum feasible amount of resources. Despite the importance of technical efficiency there have been few published studies in Australia which measure technic ....In the face of rising health service costs, an ageing population, and falling private health insurance rates, the efficient use of scarce health service resources has become a central theme in health system reform. Productive (or technical) efficiency is a key aspect of health system reform - that given health services are produced with the minimum feasible amount of resources. Despite the importance of technical efficiency there have been few published studies in Australia which measure technical efficiency in the health sector. This study will develop theoretical and empirical approaches to measuring technical efficiency in the production of hospital services using data from Victoria. Measures of hospital technical efficiency will be developed using two quantitative modelling approaches: stochastic frontier modelling and data envelopment analysis. Results will be used to investigate the impact of patient and hospital characteristics on efficiency, and to identify economies of scale and scope in the provision of hospital services. The robustness of results to changes in variables, the sample of hospitals studied, and model assumptions will be tested, and two techniques will be compared to assess their appropriateness in the health services context which has not previously been done. Criteria for assessing the approaches include the degree to which: assumptions affect the robustness of results; the techniques capture the salient features of health services production; and the techniques produce similar rankings and estimates of inefficiency. The methods used will represent a significant contribution to international knowledge of hospital efficiency measurement, and the relationships between hospital characteristics, casemix, and efficiency. The study wil provide improved measures of hospital efficiency in Victoria, and will inform debate on hospital funding policy.Read moreRead less