title: Mechanistic and therapeutic insights gained from studying rare skeletal diseases.
abstract: 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 patients with rare conditions as well as patients with common skeletal disorders.
authors.affiliation: Division of Orthopaedics and Sports Medicine, Children's National Health System, 111 Michigan Avenue NW, Washington, DC 20010, USA. Electronic address: LTOSI@childrensnational.org.
authors.forename: Laura L
authors.initials: LL
authors.lastname: Tosi
authors.affiliation: Orthopaedic Research Laboratories, Boston Children's Hospital, 320 Longwood Avenue, Room EN260.1, Boston, MA 02115, USA. Electronic address: Matthew.Warman@childrens.harvard.edu.
authors.forename: Matthew L
authors.initials: ML
authors.lastname: Warman
mesh_terms: D001847:Bone Diseases / Q000503:physiopathology* / Q000628:therapy*; D006801:Humans; D035583:Rare Diseases / Q000503:physiopathology* / Q000628:therapy*; D014158:Transcription, Genetic
keywords: Nosology; Pathophysiology; Rare bone diseases; Therapeutics