Endocrine Abstracts

Recent genome-wide association studies of estimated BMD (eBMD) have now included 426,000 individuals, identifying 518 genome-wide significant loci (301 novel), which explain 20% of the total variance in eBMD. Some of these loci are also strongly associated with risk of fracture in a GWAS meta-analysis of 1.2 million individuals. In this talk, I will discuss functional genomics methods that can use this information to identify proteins strongly enriched for known causal protein...

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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 oppo...