Identification of Novel Genetic Markers 

Principal Investigator: Dr Omar Albagha from the Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh.

A grant was awarded, in 2017, by the Paget’s Association to fund research which will improve our understanding of the biology of Paget’s disease.
Paget’s Disease of Bone often runs in families and sometimes can be passed on from one generation to the next. Until relatively recently very little was known about the genetic characteristics of patients with Paget’s disease and because of this, it was almost impossible to predict if the disease would be passed on from parent to child. There have been huge advances in understanding exactly which genetic factors are associated with the development of Paget’s disease. Over the past 15 years, however, huge advances have been made in identifying the gene abnormalities, which occur in the condition. So far, about 8 gene variants that predispose to Paget’s disease have been discovered, but research indicates that there are
other variants that remain to be identified.

The aim of this project will be to identify new genetic variants, which predispose to Paget’s disease. We will do this using a technique called, A Genome Wide Association Study. The new study will build upon work that has already been performed, with the aim of providing a comprehensive picture, of which genetic variants predispose to the condition. The value of the project is that it will allow us to develop accurate genetic markers for Paget’s disease that could be offered to people
who have a family history of the disease and provide information whether they are likely to develop it themselves, in future years. People who were found to have markers suggestive of developing Paget’s disease could be entered into a programme of enhanced surveillance so that the disease could be picked up early and they could be offered preventative therapy.

The project will improve our understanding of the biology of the disease and offers the prospect that pain and other complications could be avoided or minimised by early diagnosis and treatment.