Genes Encoding The Epithelial Sodium Channel Subunits And Blood Pressure
Funder
National Health and Medical Research Council
Funding Amount
$429,330.00
Summary
High blood pressure is a prominent risk factor for heart attack and stroke which kill over 30,000 Australians each year. Blood pressure is determined by the combination of inherited predisposition and lifestyle factors such as diet. Understanding these combinations offers new opportunities for preventing or treating high blood pressure and reducing the incidence of cardiovascular disease. As part of an NHMRC-funded project, we have discovered recently that genes controlling the amount of salt ex ....High blood pressure is a prominent risk factor for heart attack and stroke which kill over 30,000 Australians each year. Blood pressure is determined by the combination of inherited predisposition and lifestyle factors such as diet. Understanding these combinations offers new opportunities for preventing or treating high blood pressure and reducing the incidence of cardiovascular disease. As part of an NHMRC-funded project, we have discovered recently that genes controlling the amount of salt excreted by the kidneys appear to be linked with high blood pressure. If confirmed, this observation might provide an explanation of salt on blood pressure in susceptible individuals. Building on our basic observation, we shall extend our studies to place the findings beyond reasonable doubt. We shall investigate the gene sequences to discover what changes might lead to high blood pressure and examine how these affect the kidney and body salt. These studies combine forces of two large international blood pressure research groups. Our observation is the first internationally to define a blood pressure gene in the general community. Our results are potentially relevant to many more people than only those with very high blood pressure.Read moreRead less
Molecular Genetics Of Hereditary Motor And Sensory Neuropathy With Pyramidal Signs
Funder
National Health and Medical Research Council
Funding Amount
$235,500.00
Summary
This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neu ....This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neuropathies yet to be defined. Because this disorder affects long spinal cord neurones, identifying the mutated gene and studying its function may shed light on possible mechanisms involved in other spinal cord diseases. This research is a systematic search and should lead to identifying the abnormal gene causing disease. Once the gene involved is known then an effective diagnostic test will be developed. When a test for the disease is available, it is likely that we will find that the disorder is more common than previously recognised. Knowledge of the function of the gene will lead to an understanding of how the disease develops and will eventually enable development of effective treatments.Read moreRead less
Enhancing Joint Replacement Outcomes Through National Data Linkage
Funder
National Health and Medical Research Council
Funding Amount
$776,063.00
Summary
This is an Australian Orthopaedic Association National Joint Replacement Registry (AOANJRR) project that involves linking Registry data with state and federal government health datasets. This will help to better understand the complications and factors affecting the rate of complication after hip, knee and shoulder joint replacement. This information will be used to improve outcomes for patients having this surgery.
Osteoarthritis is the major cause of disability in elderly Australians. It is a disease of unknown aetiology that results in deterioration of the structure and function of articular cartilage. Current treatment is palliative or involves joint replacement, which is very costly. No preventive strategies are currently available. These facts have led to 2000-2010 being labelled the Bone and Joint decade. Studies have consistently indicated a higher risk of this disease in families. This study will e ....Osteoarthritis is the major cause of disability in elderly Australians. It is a disease of unknown aetiology that results in deterioration of the structure and function of articular cartilage. Current treatment is palliative or involves joint replacement, which is very costly. No preventive strategies are currently available. These facts have led to 2000-2010 being labelled the Bone and Joint decade. Studies have consistently indicated a higher risk of this disease in families. This study will examine for novel genes for this condition in a large family study involving over 500 subjects. Identification of susceptibility or severity genes in OA is of marked importance as it is likely to lead to a better understanding of the biochemical basis of these disorders, and translate to rational therapeutic strategies and preventative strategies in at-risk individuals in the longer term.Read moreRead less