Mechanistic and therapeutic insights into skeletal biology learned from the study of rare bone diseases

To date, nearly 500 unique rare bone diseases have been described,which in the aggregate affect 1 in 5000 live births and comprise 5% of all birth defects. Currently, the overwhelming majority of these disorders have no cure. Studying rare bone diseases has helped elucidate biological pathways and reveal valuable therapeutic targets that also benefit patients with common bone diseases. In an effort to engage scientists, clinicians, young investigators, advocacy groups and representatives of the pharmaceutical industry in fruitful discussion of how the study and treatment of rare bone diseases has helped, and will continue to help, expand our understanding of bone health, The National Bone Health Alliance and Rare Bone Disease Patient Network sponsored this workshop in partnership with the American Society for Bone and Mineral Research and the United States Bone and Joint Initiative.