The Characterisation of the Genetic basis of Paget's Disease of Bone [ 2001 - 2001 ]

Research Grant

Researchers: A/Pr Joanne Shaw (Principal investigator)

Brief description 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.

Funding Amount $AUD 266,402.37

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant