The Characterisation Of The Genetic Basis Of Paget's Disease Of Bone
Funder
National Health and Medical Research Council
Funding Amount
$266,402.00
Summary
Paget's disease is a bone disease in which the normal process of bone being formed and then broken down doesn't take place in the usual way. This results in bones that are enlarged, misshapen, dense and fragile. Paget's disease usually affects people of middle age or older. Although some cases are asymptomatic, Paget's disease is a major cause of bone pain and deformity. In Australia, 3-5% of people aged 40 years and over have Paget's disease. Paget's disease usually affects one of the long bone ....Paget's disease is a bone disease in which the normal process of bone being formed and then broken down doesn't take place in the usual way. This results in bones that are enlarged, misshapen, dense and fragile. Paget's disease usually affects people of middle age or older. Although some cases are asymptomatic, Paget's disease is a major cause of bone pain and deformity. In Australia, 3-5% of people aged 40 years and over have Paget's disease. Paget's disease usually affects one of the long bones in the leg, the pelvic bone, the skull or the spine. One of the most serious complications of Paget's disease is the devlopment of bone cancer. A genetic predisposition is an important factor in the development of Paget's disease. At least a quarter of patients with Paget's disease have at least one close relative with the same condition. Although it is more than 100 years since Sir James Paget first described Paget's disease, the underlying cause remains unknown. We have identified a large family with over 200 members in which there are 35 subjects affected by Paget's disease. The pattern of inheritance in this family is consistent with an autosomal dominant disorder. We have identified a discrete genetic region that is linked with the inheritance of Paget's disease in this family, indicating that a suscpetibility gene for Paget's disease lies in this region. The research program outlined in this application will refine this localisation and will define and characterise this susceptibility gene for Paget's disease. This research program is of great clinical relevance as the identification of the causative gene will open up new approaches for the treatment and prevention of this disease.Read moreRead less
TRF2 Protein And T-loop Replication In Alternative Lengthening Of Telomeres
Funder
National Health and Medical Research Council
Funding Amount
$398,156.00
Summary
Telomere loss acts as a clock telling cells when to stop proliferating. Cancer cells ignore this clock and grow indefinitely by preventing the normal loss of telomeres. Little is known about one of the methods cancers use to preserve telomeres, called ALT, which is employed by some brain tumours and other cancers. We will determine if the TRF2 protein is involved in controlling ALT. This will lay the basis for future anti-cancer treatments targeted at ALT.
Identification And Characterisation Of Amplified Oncogenes In Liposarcoma
Funder
National Health and Medical Research Council
Funding Amount
$354,293.00
Summary
Liposarcoma is the commonest single subtype of sarcomas, a group of cancers that disproportionately affects the young. The overall mortality for liposarcomas is approximately 50%. Chemotherapy may temporarily controlling disease in under a third of patients, but is toxic and cannot achieve cure. We have identified new potential therapeutic targets, and aim to develop these in the clinic.