Projects per year
Personal profile
Research interests
Her main research interests are rare bone disorders of childhood. These span bone fragility disorders (Osteogenesis Imperfecta or brittle bone disease, hypophosphatasia) to high bone mass disorders (Osteopetrosis or marble bone disease); a range of growth and bone disorders: hormone disorders, skeletal dysplasias, achondroplasia, calcium and phosphate disorders (such as XLH, Vitamin D disorders and placental calcium transfer disorders).
Current research includes Principal Investigator for several rare bone disease trials: 1. Prospective, multicenter study on Denosumab in children with osteogenesis imperfecta 2. An observational, longitudinal, long-term registry of patients with Hypophosphatasia (HPP) 3. International Registry for XLH 4. Natural history of children with Achondroplasia study; and active clinical research projects with international collaborations exploring mechanisms in osteopetrosis and rare forms of osteogenesis imperfecta and other bone fragility disorders.
External positions
Consultant Paediatric Endocrinologist
4 Oct 2004 → …
Fingerprint
- 1 Similar Profiles
Network
Projects
- 1 Active
Research output
-
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Blakes, A. J. M., Wai, H., Davies, I., Moledian, H. E., Ruiz, A., Thomas, T., Bunyan, D., Thomas, N. S., Burren, C. P., Greenhalgh, L., Lees, M., Pichini, A., Smithson, S. F., Tavares, A. L. T., O’Donovan, P., Douglas, A. G. L., Whiffin, N., Baralle, D. & Lord, J., 31 Jan 2022, (Accepted/In press)Research output: Other contribution
Open Access -
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Savarirayan, R., De Bergua, J. M., Arundel, P., McDevitt, H., Cormier-Daire, V., Saraff, V., Skae, M., Delgado, B., Leiva-Gea, A., Santos-Simarro, F., Salles, J. P., Nicolino, M., Rossi, M., Kannu, P., Bober, M. B., Phillips, J., Saal, H., Harmatz, P., Burren, C., Gotway, G. & 6 others, , 21 Mar 2022, In: Therapeutic advances in musculoskeletal disease. 14, p. 1759720X221084848Research output: Contribution to journal › Article (Academic Journal) › peer-review
Open AccessFile5 Downloads (Pure) -
Monitoring skull base abnormalities in children with osteogenesis imperfecta - Review of current practice and a suggested clinical pathway
Highly Specialised Service for Severe, Complex and Atypical Osteogenesis Imperfecta (NHS England), Jan 2022, In: Bone. 154, p. 116235 116235.Research output: Contribution to journal › Article (Academic Journal) › peer-review