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What causes Paget's disease of bone and how can complications be prevented?

Award Details

  • Principal Investigator
    Professor Stuart Ralston
  • Type of grant
    Programme Grant Full application
  • Amount Awarded
    £400,000.00
  • Institute
    University of Edinburgh
  • Location
    Edinburgh
  • Status
    Complete
  • Start Date
    01/08/2012
  • Grant reference number
    19799
  • Condition
    Paget’s disease

What are the aims of this research?

Genetic risk factors are important in Paget’s disease of bone and this programme of research aims to pinpoint the abnormal genes and find out why they cause disease. A blood test will also be developed to identify people at risk of Paget’s disease so that treatment can be targeted more effectively and prevent complications developing.

Why is this research important?

Paget’s disease of bone is a common condition that afflicts over 1 million people in the UK and can lead to a great deal of disability by causing bones to bend and break. Although it can be treated with drugs called bisphosphonates, these drugs have been shown to have a minimal impact on pain or quality of life in patients with advanced disease, probably because they are given too late. There is therefore a need for earlier detection of Paget’s disease and better targeting of treatments.

Genetic risk factors are known to play a central role in the development of Paget’s disease of bone; however most of the genes involved have not yet been identified. There is a genetic test available for this condition but it is applicable to only a small percentage of suffers (less than 10%). Previous work in this research group has identified that there are seven genes which increase an individual’s risk of developing Paget’s disease by up to ten times, and this programme of research will investigate these genes further to identify in what way they are abnormal and why these abnormalities cause the bones to bend and break. This information will be used to develop a genetic test for Paget’s disease which is applicable to the vast majority of patients with the disease and can identify people at risk before complications have developed. There are also known to be environmental factors which contribute to disease development, however these are not yet well understood and so this study will also investigate the environmental factors involved in Paget’s disease and whether they can be modified.

How will the findings benefit patients?

Pinpointing the causes of Paget’s disease will improve understanding of why this condition develops and lead to improved methods of detecting the disease at an early stage. Individuals identified as being at risk of Paget’s disease could be monitored and treated early, before complications occur. The results of these studies could also lead to the development of new treatments which specifically target the pathways which cause disease.

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