Skeletal Rare Diseases
Chair: ML Brandi
Members: G Adib, D Agnusdei, J Bilezikian, C Bogado, M Chandran, D Chappard, R Chapurlat, B Clarke, JP Devogelaer, R Eastell, A El Magrahoui, S Ferrari, G Guglielmi, N Hamdy, 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, R Oheim, E Roldan, A Superti-Furga
To investigate skeletal rare disorders and skeletal complications in non-skeletal rare disorders.
- SRD Course worldwide
- Expression of hypophosphatasia in adults
- Review on the uptake of drugs that are available for SRD in different geographical areas of the world
- Developing brochures and risk cards for various skeletal rare diseases
- SRD Course
- Creation of a coalition of associations worldwide
- Paper describing the nomenclature of SRDs focusing on primary (congenital) metabolic diseases
- Hypophosphatasia in adults
Skeletal Rare Disorders - online detailed information about more than 90 of the main rare diseases that affect the skeleton.
- Masi, L., Ferrari, S., Javaid, M.K. et al. Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis 16, 11 (2021).
- Masi, L., et al., Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int, 2015. 26(10): p. 2529-58.