Skeletal Rare Diseases Working Group

Members

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

Related content: Skeletal Rare Disorders

https://www.iofbonehealth.org/osteoporosis-musculoskeletal-disorders/skeletal-rare-disorders

Taxonomy of rare genetic metabolic bone disorders.

Masi, L., Agnusdei, D., Bilezikian, J. et al. and the Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation.

Osteoporosis International (2015). DOI 10.1007/s00198-015-3188-9

https://link.springer.com/article/10.1007/s00198-015-3188-9