期刊
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
卷 74, 期 23, 页码 2921-2938出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacc.2019.10.011
关键词
dilated cardiomyopathy; functional genomics; genetics; precision medicine
资金
- National Health and Medical Research Council
- Estate of the Late R.T. Hall
- St. Vincent's Clinic Foundation
- Simon Lee Foundation
- Victor Chang Cardiac Research Institute
- National Institutes of Health
- Leducq Foundation
- Howard Hughes Medical Institute
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. (C) 2019 by the American College of Cardiology Foundation.
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