Bioengineering and Molecular Medicine Laboratory, the Children's Hospital at Westmead and the Westmead Institute for Medical Research, Westmead, Australia.
Children's Hospital Westmead Clinical School, University of Sydney, Camperdown, Australia.
J Bone Miner Res. 2022 May;37(5):826-836. doi: 10.1002/jbmr.4549. Epub 2022 Apr 17.
Osteogenesis imperfecta (OI) describes a series of genetic bone fragility disorders that can have a substantive impact on patient quality of life. The multidisciplinary approach to management of children and adults with OI primarily involves the administration of antiresorptive medication, allied health (physiotherapy and occupational therapy), and orthopedic surgery. However, advances in gene editing technology and gene therapy vectors bring with them the promise of gene-targeted interventions to provide an enduring or perhaps permanent cure for OI. This review describes emergent technologies for cell- and gene-targeted therapies, major hurdles to their implementation, and the prospects of their future success with a focus on bone disorders. © 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
成骨不全症（OI）描述了一系列遗传性骨骼脆弱疾病，这些疾病会对患者的生活质量产生实质性影响。OI 患儿和成人的多学科管理方法主要包括使用抗吸收药物、联合健康治疗（物理治疗和职业治疗）和矫形外科手术。然而，基因编辑技术和基因治疗载体的进步带来了基因靶向干预的希望，为 OI 提供持久或永久性的治愈方法。本综述描述了针对细胞和基因的靶向治疗的新兴技术、它们实施的主要障碍，以及它们在骨骼疾病方面未来成功的前景。
