冠状动脉疾病
疾病
医学
心脏病学
内科学
遗传学
生物
摘要
The increasingly widespread availability of genomic sequencing has enabled the identification of persons and families with uniquely favorable traits, including a very low incidence of clinical events. Such exceptional persons across diverse communities are playing an important role in the genesis of medicines for common cardiovascular diseases. The discovery of proprotein convertase subtilisin–kexin type 9 (PCSK9) as a therapeutic target for coronary artery disease established a playbook. Approximately 20 years ago, positional cloning of a novel candidate locus of families with familial hypercholesterolemia living in France and Utah identified gain-of-function variants in PCSK9. In short course, targeted sequencing of PCSK9 . . .
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