GENETICS: Edited by Nathaniel H. RobinOsteogenesis imperfecta: advancements in genetics and treatmentRossi, Vittoriaa; Lee, Brendana,b; Marom, Ronita,bAuthor Information aDepartment of Molecular and Human Genetics, Baylor College of Medicine bTexas Children's Hospital, Houston, Texas, USA Correspondence to Brendan Lee, MD, PhD, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room R814, Houston, TX 77030, USA. Tel: +1 713 798 5443; fax: +1 713 798 5168; e-mail: email@example.com Current Opinion in Pediatrics: December 2019 - Volume 31 - Issue 6 - p 708-715 doi: 10.1097/MOP.0000000000000813 Buy Metrics Abstract Purpose of review The purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for this disorder. Recent findings The introduction of next-generation sequencing technology has led to better understanding of the genetic cause of osteogenesis imperfecta and enabled cost-effective and timely diagnosis via expanded gene panels and exome or genome sequencing. Clinically, despite genetic heterogeneity, different forms of osteogenesis imperfecta share similar features that include connective tissue and systemic manifestations in addition to bone fragility. Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to include the maximization of growth and mobility, and the management of extraskeletal complications. The standard of care in pediatric patients is bisphosphonates therapy. Ongoing preclinical studies in osteogenesis imperfecta mouse models and clinical studies in individuals with osteogenesis imperfecta have been instrumental in the development of new and targeted therapeutic approaches, such as sclerostin inhibition and transforming growth factor-β inhibition. Summary Osteogenesis imperfecta is a skeletal dysplasia characterized by bone fragility and extraskeletal manifestations. Better understanding of the mechanisms of osteogenesis imperfecta will enable the development of much needed targeted therapies to improve the outcome in affected individuals. Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.