A study, published in Nature Genetics, identified a mutated gene that causes Hajdu-Cheney syndrome, of which severe osteoporosis is a major factor.
The research identifies the possible causes of osteoporosis and highlights the possibility of using the gene as a target for therapies.
Professor Richard Trembath, of King's College London, said: "Up until now, we knew very little about the genetic mechanisms of severe bone disease. But these findings add to our understanding of the uncommon condition of HCS and provide an important basis to develop future studies in more common forms of osteoporosis, including the development of potential new therapies."
Meanwhile, a study published in JAMA found that those on medication for over five years are more likely to experience an atypical fracture involving the femoral shaft.