There are over 450 genetic diseases affecting the bone, and the cause of at least 100 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. For example, we plan to study how the regulation of the transport of small vesicles in bone cells helps to ensure their proper function. On the therapeutic front, we will test our hypothesis that supplementing the secreted protein WNT1 (which we identified as mutated in early-onset osteoporosis) can safely increase bone mass in mice. 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.