Characterisation and therapeutic intervention of two novel mouse models of Paget's disease of bone

佩吉特？骨关节炎（PDB）是一种常见的骨骼疾病，在英国55岁以上的人群中约有3%的人受到影响，导致疼痛，骨骼软化，耳聋和关节炎。遗传因素在疾病中很重要，已经发现了两个异常基因。目前还不清楚这些有缺陷的基因是如何导致PDB的，也不清楚如果早期给予治疗是否能够预防疾病并发症。该项目的目的是为PDB开发一个实验模型，以便更多地了解疾病发生的原因，并确定早期治疗是否可以有效预防并发症。如果我们的实验成功，从这些研究中获得的信息将用于帮助设计对有缺陷基因的患者进行预防性治疗的临床试验。

Paget?s disease (PDB) is a common bone disease that affects about 3% of people over the age of 55 in the UK which causes pain, softening of the bones, deafness and arthritis. Genetic factors are important in the disease and two abnormal genes have been discovered. It is unclear how these faulty genes cause PDB and it is also unclear if treatment might be able to protect against disease complications if given early enough. The aim of this project is to develop an experimental model for PDB in order to find out more about why the disease occurs and to determine if early treatment might be effective in preventing complications. If our experiments are successful the information gained from these studies will be used to help design clinical trials of preventative therapy in patients with the faulty genes.