There are over 450 genetic diseases affecting the bone, and the cause of at least 75 of them is still unknown. Identifying the genetic basis of bone disease has previously been helpful not only to help the families affected by these genetic diseases, but also to develop therapies for more common conditions such as osteoporosis. In recent years, we have been able to identify the genetic basis of over four genetic diseases using new DNA sequencing technologies. Identifying the gene is a first step in the process of understanding the diseases and developing targeted therapies.
In our research program, we propose to study other rare bone diseases to identifying the gene responsible, to use cell and mouse studies to understand the way the genes work, and finally to attempt to develop new therapies targeting the pathway affected by these genes. Notably, we have recently identified mutations in fibronectin, a key protein of conjunctive tissues, as a cause of a skeletal dysplasia causing scoliosis and abnormal growth plates. Moreover, we found rare fibronectin mutations in individuals with idiopathic scoliosis, a condition affecting up to 3% of the population.
Our research will not only help the patients and families affected by these diseases, but will advance the field of bone development and maintenance and cell signaling research, and will allow us to test emerging therapies for bone diseases.