Mechanistic and Therapeutic Advances in Rare Skeletal Diseases Meeting, September 26–27, 2018: A Meeting in Affiliation With the American Society for Bone and Mineral Research (ASBMR)

Abstract

The initial session focused on diagnostic approaches to rare skeletal diseases ranging from classical radiographic and ultrasonographic approaches to multi‐omic approaches based on next‐generation DNA sequencing, RNA sequencing, and metabolomics; evaluation of chromatin architecture in controlling gene expression in the context of translating rare genetic mutation to common bone phenotypes; and finally, analysis of protein modifications of macromolecules such as collagens in the pathogenesis of bone disease. [...]partnership with industry is also essential for moving mechanistic discoveries to patients. [...]there is an enormous opportunity for discoveries in skeletal development and homeostasis. [...]a multi‐omic approach combining whole‐exome/genome sequencing and RNAsequencing can increase the yield of diagnostic findings in rare skeletal diseases as well as point to novel genotype‐phenotype correlations that will inform structure function discoveries.