当前位置：
X-MOL 学术
›
J. Am. Coll. Cardiol.
›
论文详情
Our official English website, www.x-mol.net, welcomes your
feedback! (Note: you will need to create a separate account there.)
Precision Medicine in the Management of Dilated Cardiomyopathy
Journal of the American College of Cardiology ( IF 21.7 ) Pub Date : 2019-12-01 , DOI: 10.1016/j.jacc.2019.10.011 Diane Fatkin 1 , Inken G Huttner 2 , Jason C Kovacic 3 , J G Seidman 4 , Christine E Seidman 5
Journal of the American College of Cardiology ( IF 21.7 ) Pub Date : 2019-12-01 , DOI: 10.1016/j.jacc.2019.10.011 Diane Fatkin 1 , Inken G Huttner 2 , Jason C Kovacic 3 , J G Seidman 4 , Christine E Seidman 5
Affiliation
|
Precision medicine promises to dramatically improve patient outcomes and reduce health care costs through a shift in focus from disease treatment to prevention and individualized therapies. For families with inherited cardiomyopathies, efforts to date have been directed toward discovery and functional characterization of single disease-causing variants. With advances in sequencing, the cataloging of personal genetic variation has been expedited, providing improved insights into the key importance of the genes in which variants occur. These advances have propelled seminal opportunities for successful variant-targeted disease-reversing therapy. New challenges have also emerged-particularly interpretation of the rapidly rising numbers of "variants of unknown significance." For treatments based on patient genotype to be feasible on a wider scale, these obstacles need to be overcome. Here the authors focus on genetics of dilated cardiomyopathy and provide a roadmap for implementing genomic information into future patient management.
中文翻译：
扩张型心肌病管理中的精准医学
精准医疗有望通过将重点从疾病治疗转移到预防和个性化治疗来显着改善患者的治疗效果并降低医疗保健成本。对于患有遗传性心肌病的家庭，迄今为止的努力主要集中在单一致病变异的发现和功能表征上。随着测序技术的进步，个人遗传变异的编目工作得到了加快，从而更好地了解了发生变异的基因的关键重要性。这些进展为成功的变异靶向疾病逆转治疗带来了开创性的机会。新的挑战也出现了——特别是对“意义不明的变体”数量迅速增加的解释。为了使基于患者基因型的治疗在更广泛的范围内可行，需要克服这些障碍。在这里，作者专注于扩张型心肌病的遗传学，并提供了将基因组信息应用于未来患者管理的路线图。
更新日期：2019-12-01
中文翻译：
扩张型心肌病管理中的精准医学
精准医疗有望通过将重点从疾病治疗转移到预防和个性化治疗来显着改善患者的治疗效果并降低医疗保健成本。对于患有遗传性心肌病的家庭，迄今为止的努力主要集中在单一致病变异的发现和功能表征上。随着测序技术的进步，个人遗传变异的编目工作得到了加快，从而更好地了解了发生变异的基因的关键重要性。这些进展为成功的变异靶向疾病逆转治疗带来了开创性的机会。新的挑战也出现了——特别是对“意义不明的变体”数量迅速增加的解释。为了使基于患者基因型的治疗在更广泛的范围内可行，需要克服这些障碍。在这里，作者专注于扩张型心肌病的遗传学，并提供了将基因组信息应用于未来患者管理的路线图。
京公网安备 11010802027423号