Genetic Susceptibility and Molecular Pathways in Degenerative Musculoskeletal Diseases
Degenerative musculoskeletal diseases, such as osteoarthritis (OA), have tremendous effect on individuals’ quality of life and create considerable costs for society. The mechanisms driving the disease progression are not fully understood and the current treatment relies mainly on relieving symptoms. While OA can be secondary to various factors, the majority of cases are considered primary and the proportion of heritability in OA has been estimated to be as high as 65 %. Our aim is to elucidate different factors contributing to the disease pathogenesis by identifying disease-causing variants using novel genetic approaches and studying their effect on protein function and signalling using in vitro analyses. Our study material consists of large families with early-onset musculoskeletal disease with clear inheritance in the family.
The project is part of Centre for Life Course Epidemiology at the Institute of Health Sciences. Large population based cohorts, the Northern Finland Birth Cohort (http://www.oulu.fi/nfbc/) and the Health 2000 Survey (http://www.terveys2000.fi/), are used to study the genetic, metabolic and environmental determinants for degenerative musculoskeletal diseases.
Last updated: 28.10.2016