Mechanistic and therapeutic insights gained from studying rare skeletal diseases

Laura L. Tosi, Matthew L. Warman
2015 Bone  
Rare bone diseases account for 5% of all birth defects and can cause significant morbidity throughout patients' lives. Significant progress is being made to elucidate the pathophysiological mechanisms underlying these diseases. This paper summarizes presentation highlights of a workshop on Rare Skeletal Diseases convened to explore how the study of rare diseases has influenced the field's understanding of bone anabolism and catabolism and directed the search for new therapies benefiting
more » ... benefiting patients with rare conditions as well as patients with common skeletal disorders.
doi:10.1016/j.bone.2015.03.016 pmid:25819040 fatcat:matfcmfvazbwhhajbs7hm7gkku