Our main goal is to identify metabolic pathways defective in musculoskeletal diseases, by using genetic approaches. Although genome-wide association studies (GWASs) have revealed several interesting predisposing candidate genes for OA, they all indicate relatively low individual risk. These studies are also complicated by clinical and genetic heterogeneity and the contribution of numerous rare alleles that are not identified in GWASs. We will apply next-generation sequencing techniques to identify rare variants with high genetic impact on these common musculoskeletal diseases using well defined phenotypes in both population and family cohorts.
Viimeksi päivitetty: 28.10.2016