Quantum advances have occurred in the field of human genetics in the six decades since Watson and Crick expressed their “wish to suggest a structure for the salt of deoxyribose nucleic acid.” These culminated with the human genome project, which has opened up myriad possibilities, including that of individualised genetic medicine, the ability to deliver medical advice, management, and therapy tailored to an individual’s genetic blueprint.

Advances in genetic diagnostic capabilities have been rapid, to the point where the genome can be sequenced for several thousand dollars. Crucially, it has facilitated the identification of targets for “precision” treatments to combat genetic diseases at their source. The authors review the innovative, pathogenesis-based therapies that are revolutionising management of skeletal dysplasias, giving patients and families new options and outcomes.