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
Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random ....Melanoma is one of Australia?s major cancer problems, but we still do not completely understand why certain people are at higher risk than others. This study is focussed on people who have developed melanoma at an early age (under 40yrs) and will compare their family history of cancer, skin features, genetic characteristics and various aspects of their previous sun exposure with people who don?t have melanoma. The large number of people involved and the fact that they will be selected at random from the population of Melbourne, Sydney and Brisbane which have very different melanoma rates, means that the study will be able to clarify what roles genes and environment play in the disease. It is intended to be an international benchmark in this regard, and Australia is the only country in which a study of this scope could be mounted. Potential benefits from this research will be a better understanding of the way sun exposure affects people differently, depending on their genetic makeup, the place of genetic testing in assessing people?s risk of melanoma, particularly if they have relatives with the disease, and way in which skin features like moles should be taken into account in that assessment. Finally, it is likely that better information about the types of genetic susceptibility to melanoma in the population will translate to more effective programs for the prevention of melanoma and for detection of melanomas efficiently at the earliest possible stage.Read moreRead less
Linkage And Sequence Analysis Of A Locus On The X Chromosome That Contributes To Population Variation In Blood Pressure
Funder
National Health and Medical Research Council
Funding Amount
$458,080.00
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 reducing the incidence of cardiovascular disease. We have discovered recently that genes on the sex chromosome known as chromosome X appear to be linked with high blood pressure. Building on this basic obs ....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 reducing the incidence of cardiovascular disease. We have discovered recently that genes on the sex chromosome known as chromosome X appear to be linked with high blood pressure. Building on this basic observation, we shall extend our studies to place the findings beyond reasonable doubt. We shall investigate the gene sequences in this region of the X chromosome to discover what changes in the DNA code might lead to high blood pressure and how this might happen. Our studies capitalise on the recent release of the draft sequence of the entire human genome. These investigations in almost 800 healthy volunteer families have the potential to provide new opportunities for prevention and treatment of cardovascular disease.Read moreRead less