Congenital skeletal disorders - identification of melocular mechanisms and pathways
Populärvetenskaplig sammanfattning av projektet
Skeletal dysplasia is a term describing a diverse group of genetic diseases affecting bones and cartilage. Usually, affected individuals present with short stature and deformities of the skeleton, which sometimes can affect other organs as well. The prevalence of skeletal dysplasias is around 1:3000. However, for some of very rare cases there are only few families or affected individuals described. Human skeleton is comprised of 206 bones that function together as a structural support for body and the inner organs, and it is also crucial for body movement and metabolic function.
Humans have approximately 20000 genes, where the information about our inherited traits is stored. It is known, that around 500 genes are responsible for proper development of our skeletons, and the disturbances of these genes lead to skeletal dysplasias. However, not all genes regulating growth and skeletal development are identified yet. Rapidly developing diagnostic tools and technologies enable researchers to study our genomes on the very deep level. Nevertheless, even after meticulous analyses, many cases remain unsolved.
Genetic inheritance is not a straightforward process and whole body is functioning like a complex machinery, where multiple pathways have to act harmoniously in order to ensure proper functioning and development. Molecular studies of inherited human diseases lead to better understanding of what causes the disease and which developmental pathways are important for skeletal growth and metabolism, which, in turn, leads to potential discovery of novel therapeutic strategies.