Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5
Clint L Miller1, Amy R Kontorovich2, Ke Hao3
1Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
Insights
Precision medicine offers tailored treatments for vascular diseases. This seminar explores approaches for complex atherosclerosis and single-gene Mendelian vascular diseases, highlighting genetic differences.
Area of Science:
- Cardiovascular Research
- Genetics
- Precision Medicine
Background:
- Atherosclerosis is a complex genetic vascular disease, a leading cause of heart disease and stroke.
- Mendelian vascular diseases result from single genetic mutations with significant impact.
- Precision medicine strategies differ based on the genetic underpinnings of vascular conditions.
Purpose of the Study:
- To explore precision medicine for vascular diseases.
- To differentiate approaches for atherosclerosis versus Mendelian vascular diseases.
Main Methods:
- Review of genetic basis for atherosclerosis.
- Review of genetic basis for Mendelian vascular diseases.
- Comparison of precision medicine strategies for both disease types.
Main Results:
- Atherosclerosis involves numerous genetic factors (polymorphisms).
- Mendelian vascular diseases are caused by single gene defects.
- Distinct precision medicine strategies are required for each disease category.
Conclusions:
- Precision medicine requires tailored genetic approaches for vascular diseases.
- Understanding genetic complexity is key for effective vascular disease treatment.
- Future research should focus on specific genetic targets for atherosclerosis and Mendelian vascular diseases.
Abstract:
In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, peripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve only a single genetic change, but these changes can often have a profound effect that is sufficient to cause disease. These are termed "Mendelian vascular diseases," which include Marfan and Loeys-Dietz syndromes. Given the very different genetic basis of atherosclerosis versus Mendelian vascular diseases, this article was divided into 2 parts to cover the most promising precision medicine approaches for these disease types.
Related Concept Videos
Atherosclerosis III: Management
Peripheral Artery Disease I: Introduction
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Peripheral Artery Disease III: Interprofessional Care
Peripheral Artery Disease IV: Nursing Management
Varicose Veins II: Diagnostic Studies and Interprofessional Care


