Skeletal Rare Diseases Working Group

Chair: ML Brandi
Members: G Adib, D Agnusdei, C Bogado, M Chandran, D Chappard, R Chapurlat, B Clarke, JP Devogelaer, R. Eastell, A El Magrahoui, S Ferrari, G Guglielmi, F Jakob, K Javaid, J Kanis, JM Kaufman, U Liberman, G Lyritis, L Masi, P Miller, N Napoli, S Papapoulos, R Rizzoli, S Silverman, N Watts
Co-opted: M Collins, W Högler, W van Hul, E Roldan, A Superti-Furga

Aim

To investigate skeletal rare disorders and skeletal complications in non-skeletal rare disorders

Objectives

  1. Mentoring and knowledge sharing
  2. Networking opportunities
  3. Develop bone-related projects
  4. Initiate advocacy activities
  5. Integration of SRD into Rare Community

Projects

  1. SRD Course
  2. Creation of a coalition of associations worldwide
  3. Paper describing the nomenclature of SRDs focusing on primary (congenital) metabolic diseases
  4. Hypophosphatasia in adults

Skeletal Rare Disorders

Description of detailed information about more than 90 of the main rare diseases that affect the skeleton

Publications

Taxonomy of rare genetic metabolic bone disorders. Masi L, Agnusdei D, Bilezikian J, Chappard D, Chapurlat R, Cianferotti L, Devolgelaer JP, El Maghraoui A, Ferrari S, Javaid MK, Kaufman JM, Liberman UA, Lyritis G, Miller P, Napoli N, Roldan E, Papapoulos S, Watts NB, Brandi ML.Osteoporosis Int. 2015;26:2529-58. doi: 10.1007/s00198-015-3188-9.