Endocrine Abstracts (2018) 59 S2.3 | DOI: 10.1530/endoabs.59.S2.3

How rare bone disease will advance bone biology (Role of the Musculoskeletal GeCIP)

Kassim J Javaid


University of Oxford, Oxford, UK.


The study of rare bone diseases has fundamentally informed our understanding of bone biology and led to the development of novel therapies in common diseases such as osteoporosis. The 100,000 Genomes Project is a landmark enterprise of whole-genome sequencing and included rare musculoskeletal disorders. This presentation will describe how studies of Van Buchem disease, hypophosphataemia and Osteogenesis Imperfecta have informed bone biology as well as the current research opportunities from the 100,000 genome project for clinicians and researchers.

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