title: From disease to treatment: from rare skeletal disorders to treatments for osteoporosis.
abstract: During the past 15 years there has been an expansion of our knowledge of the cellular and molecular mechanisms regulating bone remodeling that identified new signaling pathways fundamental for bone renewal as well as previously unknown interactions between bone cells. Central for these developments have been studies of rare bone disorders. These findings, in turn, have led to new treatment paradigms for osteoporosis some of which are at late stages of clinical development. In this article, we review three rare skeletal disorders with case descriptions, pycnodysostosis and the craniotubular hyperostoses sclerosteosis and van Buchem disease that led to the development of cathepsin K and sclerostin inhibitors, respectively, for the treatment of osteoporosis.
authors.affiliation: Center for Bone Quality, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. n.m.appelman-dijkstra@lumc.nl.
authors.forename: Natasha M
authors.initials: NM
authors.lastname: Appelman-Dijkstra
authors.affiliation: Center for Bone Quality, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
authors.forename: Socrates E
authors.initials: SE
authors.lastname: Papapoulos
mesh_terms: D001847:Bone Diseases / Q000209:etiology* / Q000628:therapy*; D016723:Bone Remodeling / Q000502:physiology; D055808:Drug Discovery / Q000379:methods; D006801:Humans; D015576:Hyperostosis / Q000209:etiology / Q000628:therapy; D010009:Osteochondrodysplasias / Q000209:etiology / Q000628:therapy; D010024:Osteoporosis / Q000209:etiology / Q000628:therapy*; D035583:Rare Diseases; D013576:Syndactyly / Q000209:etiology / Q000628:therapy
keywords: Cathepsin K; Osteoporosis; Pycnodystostosis; Sclerosteosis; Sclerostin; Van Buchem disease