One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to l ....One of the current challenges in public health is to translate the progress from the Human Genome Project into reduced morbidity and mortality from disease. Once genetic defects are characterised, knowledge about the variability in severity of disease in mutation carriers, is important from a public health perspective. Hereditary Haemochromatosis (HH) is a common genetic disorder of iron overload that results in a wide spectrum of disease, varying from non-specific symptoms to severe damage to liver, heart, pancreas and joints from iron deposition. It is easily treatable by regular blood donation, and population-based screening for HH has therefore been advocated. In this study we aim to address gaps in the existing data on HH regarding dietary and lifestyle factors that contribute to the variable clinical picture of HH. The study will be based on the Melbourne Collaborative Cohort Study, a cohort of 31,500 men and women who have been followed for approximately 10 years. Information on dietary and lifestyle factors was collected at initial enrollment, along with a blood specimen. We will test all non-Southern European participants (31,176) for the common HH mutations in the HFE gene and then select a subgroup of 1150 people, including all people with the main genetic defect as well as a comparison group, for further clinical followup. Participants will have genetic counselling and informed consent will be obtained. Participants will complete a short questionnaire and give a blood sample for measurement of iron overload, liver function, and other relevant blood tests, then undergo a brief clinical examination. Results of all tests will be given at a followup visit by genetic counsellor or physician. This study will provide important data on natural history of HH risk factors that influence variability in clinical presentation and the association of HFE mutations with chronic diseases and all cause mortality.Read moreRead less
Chronic Gastrointestinal Symptoms And Diabetes Mellitus: Risk Factors And Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$271,527.00
Summary
Why many people with diabetes mellitus are afflicted by gastrointestinal (GI) symptoms remains uncertain. Irreversible damage to the nerves controlling the gut (autonomic neuropathy) is often considered to be important. An alternative cause of increased GI symptomatology in diabetics is poor glucose control. Some studies have shown that acute shifts in glucose levels induce changes in the gut relevant to the onset of GI symptoms. For example, high glucose levels acutely cause slower stomach empt ....Why many people with diabetes mellitus are afflicted by gastrointestinal (GI) symptoms remains uncertain. Irreversible damage to the nerves controlling the gut (autonomic neuropathy) is often considered to be important. An alternative cause of increased GI symptomatology in diabetics is poor glucose control. Some studies have shown that acute shifts in glucose levels induce changes in the gut relevant to the onset of GI symptoms. For example, high glucose levels acutely cause slower stomach emptying times, leading to feelings of fullness. Though the effects of chronic glucose levels are yet to be properly explored, population data show that poor control in the long-term is related to an increase in symptoms. The aim of this prospective study is to determine the roles played by both autonomic neuropathy and glucose control in the development of GI symptoms among diabetics. All past research has been cross-sectional, and so cannot tell us if one or both of these factors cause GI problems in diabetes. For example, it is possible that autonomic neuropathy causes an increase in GI symptoms such as nausea and fullness, which in turn induces poor glucose control though lack of appetite or inadequate stomach emptying. Upon study inclusion, all study participants will undergo a series of autonomic tests. At 3 month intervals for a period of 30 months, they will be asked to complete a 2-week diary card detailing their GI symptoms and glucose readings, and also supply blood and urine samples for analysis twice each year. Two years from the study outset, participants will again complete the autonomic test series. Psychiatric co-morbidity will be investigated using the Composite Diagnostic Interview (CIDI-Auto) at the autonomic testing time points. The study will be undertaken at the Gastroenterology Research Unit at Nepean Hospital, in collaboration with the Royal Adelaide Hospital, centres with proven track records in diabetes investigation.Read moreRead less
Early Versus Delayed Therapeutic Venesection For The Prevention Of Hereditary Haemochromatosis
Funder
National Health and Medical Research Council
Funding Amount
$196,012.00
Summary
This study will investigate treatment by blood removal for the inherited iron overload condition hereditary haemochromatosis: Is treatment more effective in reducing risk of disease if performed early as a preventive measure rather than later after diagnosis with symptoms? Details of the lifetime history of blood donation from the Australian Red Cross Blood Service will be combined with existing information from questionnaires and clinical examination of 1,439 study participants in Melbourne.
The Real And Changing Atherothrombotic Disease Burden And Secondary Prevention
Funder
National Health and Medical Research Council
Funding Amount
$507,387.00
Summary
Absolute numbers of Australians with diseased narrowed blood vessels in the heart, brain or leg are increasing, dominating health priorities and expenditure. By linking Department of Health datasets, without identifying individual's, trends in hospital admissions, prescription of chronic protective medications and the cost consequences to the health system among and across conditions will be determined. The findings will provide quality measures of hospital care and inform quality improvement