Department of Internal Medicine, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Front Endocrinol (Lausanne). 2020 Oct 9;11:556610. doi: 10.3389/fendo.2020.556610. eCollection 2020.
Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research progresses, novel insights into the molecular mechanisms are starting to provide support to clinical decision-making; now offering ample opportunities for disease screening, diagnosis, prognosis and treatment. Drug targets holding mechanisms with genetic support are more likely to be successful. Therefore, implementing genetic information to the drug development process and a molecular redefinition of skeletal disease can help overcoming current shortcomings in pharmaceutical research, including failed attempts and appalling costs. This review summarizes the achievements of genetic studies in the bone field and their application to clinical care, illustrating the imminent advent of the genomic medicine era.
当前针对单基因和复杂骨骼疾病的遗传学研究拓宽了我们对疾病病理生理学的理解，凸显了根据患者特征进行医疗干预和治疗的必要性。随着基因组研究的进展，对分子机制的新见解开始为临床决策提供支持；为疾病筛查、诊断、预后和治疗提供了丰富的机会。具有遗传支持的药物靶点机制更有可能取得成功。因此，将遗传信息应用于药物开发过程和骨骼疾病的分子重新定义有助于克服药物研究中的当前不足，包括失败的尝试和高昂的成本。这篇综述总结了骨骼领域遗传学研究的成果及其在临床护理中的应用，阐明了基因组医学时代的即将到来。
