Osteoporosis is characterized by decreased bone strength and fractures. Genetic factors play an important role in disease onset. Our research aims to identify new disease-causing genes in families with early-onset osteoporosis. We recruit families in which one or several members have developed osteoporosis and fractures already in childhood or early adulthood. We use novel genetic methods to identify the underlying gene mutations in these families. When the gene defect is detected, we use various cell-based studies and a zebrafish model to study the mechanisms through which the gene mutation leads to osteoporosis. We collaborate with international centers to learn about the disease course, characteristics, biomarkers, and treatment results in larger cohorts of patients with these rare diseases. This study will provide new information on inherited osteoporosis and helps us to improve diagnosis and treatment of osteoporosis.

2022

2026