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Printable Handouts
Navigable Slide Index
- Introduction
- Deciphering the genomic determinants of CVD
- CVD: good news and bad news
- From risk factors to clinical CVD
- The Framingham heart study
- Framingham CHD risk algoritm
- Proposed \emerging \novel risk markers
- From risk factors to subclinical to clinical CVD
- From normal heart to clinical disease
- Environmental and genetic factors
- Rational for genomic cardiovascular medicine
- The human euchromatic genome project
- Genetic variation: 1 SNP \ 1000 bases
- Haplotypes: informative patterns of DNA variation
- The haplotype map of the human genome
- What is genomics?
- Common DNA variation predisposes to clinical CVD
- Mendelian vs. complex transmission in MI
- Prevalence of CHD in risk score positive families
- Risk of CHD death in 21,004 Swedish twins
- Risk of offsprings CVD by parental\sibling status
- Offspring CVD by parental CVD status
- Heritability of risk factors and subclinical CVD
- Genomic epidemiology
- Linkage vs. association
- Discovering genetic determinants of diseases
- Quantitative intermediate phenotypes
- Pogression from risk factors to clinical CVD - detail
- The electrocardiogram
- CT and ultrasound imaging
- Genome-wide linkage analyses for CHD\MI
- Framingham heart study - three generations
- Genome-wide linakage for quantitative traits
- Concepts in selection of CVD candidate genes
- Single candidate gene variants' studies
- Why genetic associations may not replicate
- Use of candidate gene associations
- Multiple gene variants studies
- Screening for missense gene variants
- Magnitudes of risk conferred
- Gene-based analysis and replication
- Haplotype approaches for dissecting CVD genetics
- Hemostatic factor genotyping summary (1)
- Hemostatic factor genotyping summary (2)
- Association: htSNPs with PAI-1 levels
- Risk haplotype'- 4G\5G polymorphism and PAI-1
- Evolving genomic research approaches
- Genome-wide studies of up to million gene variants
- Examples of genome-wide associations studies
- Common variation in the NOS1 regulator gene
- Genome-wide scans: population-based cohorts
- Challenges for genome-wide scans in CVD
- Sequence variations in PCSK9, low LDL and CVD
- Sequencing sarcomere genes variants
- From genome association to genomic medicine
- Potential translation into genomic medicine
- MultiSNP approach to disease predication for CHD
- Design new drugs treatment
- Personalize treatment
- Personalize lifestyle
- Social issues
- Translating genome-wide findings to clinical practice
- Evolving concepts in genetic epidemiology
Topics Covered
- Cardiovascular disease (CVD) as the leading cause of death in the Western world
- Role of long-term exposure to risk factors prior to disease manifestation
- Common CVDs: myocardial infarction, stroke, congestive heart failure and sudden cardiac death
- Complex traits with both genetic and environmental risk factors
- The Human Genome Project and the HapMap Project
- Genetic linkage families
- Genome-wide studies of Single Nucleotide Polymorphisms (SNPs)
- Drug development and predictive testing
Links
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Talk Citation
O'Donnell, C. (2007, October 1). Evolving genomic approaches to the study of complex cardiovascular diseases in human populations: genetic and genomic epidemiology [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/AMQX8060.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Christopher O'Donnell has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Evolving genomic approaches to the study of complex cardiovascular diseases in human populations: genetic and genomic epidemiology
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