Genetics and Epigenetics in Cardiology
- Genetic Basis of Cardiovascular Diseases
- Epigenetics and Gene Regulation in Cardiovascular Diseases
- Precision Medicine and Genomics in Cardiology
- Gene Therapy and CRISPR Applications in Cardiology
- Mitochondrial Genetics and Cardiovascular Health
- Inherited Cardiovascular Disorders and Genetic Counseling
- Environmental Influences and Gene-Environment Interactions
The interplay between heritable DNA variation and reversible epigenetic programming shapes susceptibility, progression and therapeutic response in many heart and vascular diseases. The Genetics and Epigenetics in Cardiology session focuses on how genome sequencing, polygenic risk scores, methylation patterns and histone modifications provide mechanistic insight and enable precision approaches to diagnosis and treatment. Speakers will present human genetic discoveries, functional follow-up studies, and epigenomic mapping efforts that connect genetic loci to cellular phenotypes. The session explores clinical translation of genetic knowledge—how to apply cardiac genetics in risk stratification, cascade screening and variant interpretation—and how epigenetic biomarkers may serve as dynamic readouts of disease activity or treatment response. Panels will cover implementation challenges, including variant classification, consent and data-sharing frameworks, and equity in genetic testing access. Workshops will demonstrate analytical pipelines for variant calling, polygenic score construction and integrative multi-omic analysis. Attendees will also consider ethical, legal and social implications as well as clinical pathways to incorporate genomic and epigenomic data into multidisciplinary care models aligned with the broader Cardiology Genetics Conference program goals.
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Key Scientific Areas
Human genetics discoveries
- Rare variant analyses revealing monogenic cardiomyopathies and channelopathies
- Population sequencing and loci associated with common cardiac traits
Polygenic risk and prediction
- Construction and calibration of polygenic risk scores for coronary disease and AF
- Integration with clinical risk models to improve stratification
Epigenomics and regulatory biology
- Methylation, histone marks and chromatin accessibility mapping in cardiac tissues
- Functional assays linking regulatory variants to gene expression
Clinical implementation & ethics
- Variant interpretation workflows and reporting standards
- Consent models, data sharing, and equitable access to testing
Translational Impact
Improve early detection
Use genetic and epigenetic markers to identify high-risk individuals before clinical disease.
Enable targeted therapy
Match molecularly defined subgroups to precision therapeutics and repurposed agents.
Inform family-based care
Facilitate cascade screening and preventive strategies for relatives of affected patients.
Address policy and equity
Develop frameworks that ensure diverse populations benefit from genomic medicine.
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