Research Programme Over the past years I have investigated the genetic determinants of bone disease with emphasis on osteoporosis and Paget’s disease of bone. I have investigated and contributed to the identification of many genetic variants predisposing to osteoporosis. Recently I have identified 7 new genetic variants that predispose to Paget’s disease of bone (Albagha et al, Nat Genet 2010 and Albagha et al, Nat Genet 2011). These genetic variants were also significant predictors of Paget’s disease severity (Albagha et al, JBMR 2013). Current research interest is aimed at defining new genetic and epigenetic factors contributing to Paget’s disease of bone by employing next generation sequencing and epigenetic profiling. I am also investigating the functional effects of the newly identified genetic variants on bone cell function using in vivo and in vitro methods to understand how these genes and variants predispose to the disease. The findings of my studies will increase our understanding of disease mechanism and define new molecular pathways that could be useful in designing new treatments and in case of Paget’s disease; the identified genetic markers could be useful clinically in predicting the disease severity. This article was published on 2024-09-23
