Finlands Akademi  
Sökande / Kontakt person Mäkitie, Outi
Organisation Samfundet folkhälsan
Projektets titel Clinical and genetic characteristics of early-onset osteoporosis
Beslutnr 318137
Beslutsdatum 03.05.2018
Finansierings period 01.09.2018 - 31.08.2022
Finansiering 450 000
Beskrivning av projektet
Osteoporosis is characterized by decreased bone strength and fractures. Genetic factors play an important role in osteoporosis. Our aim is to identify new genes with a major effect on the skeleton by studying families with early-onset osteoporosis. We have recruited several families in which family members have developed osteoporosis and fractures already in childhood. We plan to search for disease-causing gene mutations in these families using novel genetic methods which allow simultaneous evaluation of all genes. When the gene defect is identified, we use blood and skin cells from the patients to study the effects of the mutation on cell functions. We will evaluate the bone tissue in bone biopsies. We will perform clinical studies in these new forms of osteoporosis to learn about the natural course and possibly associated non-skeletal manifestations. This study will provide us new information of genetic osteoporosis and help us to improve diagnosis and treatment of osteoporosis.