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Printable Handouts
Navigable Slide Index
- Introduction
- Cardiovascular disease
- Monogenic form of common disorder
- Single gene disorders and cardiovascular disease
- Genetic basis of the common form of CHD
- Polygenic form of common disorder
- Common forms of cardiovascular disease
- CHD study design
- Candidate genes or whole genome
- Genome wide association studies
- Case and control
- SNPs on chromosome 9 associated with CHD
- A new dawn for genetics of complex disorders
- A new dawn for genetics of complex traits
- Allele frequency and effect size (1)
- Allele frequency and effect size (2)
- Genetic architecture of common disease
- Translation of genomic discoveries
- Genotype knowledge predicting risk of disease
- Potential advantages of genetic tests
- The problem
- Hypothetical population and a perfect test
- A perfect test (cont.)
- A less than perfect test (1)
- A less than perfect test (2)
- A genetic test (1)
- A genetic test (2)
- Rare, high penetrance mut. - population screening
- Rare, high penetrance mut. - family screening
- Another genetic test (1)
- Another genetic test (2)
- Apolipoprotein E as a genetic marker
- Predictive genetic screening for CHD (1)
- Predictive genetic screening for CHD (2)
- Multiple risk alleles
- Genetic profiling perform poorly as a discriminator
- Genotype and prediction of CHD
- Translation of genomic discoveries
- Unique properties of genotype
- Novel biomarkers and cardiovascular disease
- Cardiovascular disease and the translational gap
- Non-causal explanations
- Investigating causal role through experimentation
- Non-experimental studies in humans
- "The cholesterol myth"
- Identification and validation of a "drug-target"
- The final arbiter of the validity - RCT in humans
- Observational studies and RCTs of statin drugs
- Attrition of new molecular entities
- "Nature's randomised trials"
- Homocysteine and stroke
- Possible explanations of this observation
- Difference in Hcy according to genotypes
- Random allocation of MTHFR genotypes
- Genotype, risk marker and event rate (1)
- Genotype, risk marker and event rate (2)
- Observed genetic effect and observational studies
- LDL-C and CHD: Mendelian randomisation study
- Mendelian randomisation: a historical perspective
- Conclusion
Topics Covered
- Ischaemic heart disease
- Valvular heart disease
- Heart muscle disease
- Monogenic form of common disorder
- Single gene disorders and cardiovascular disease
- Mutation both necessary and sufficient to lead to disease
- Genetic basis of the common form of CHD
- Polygenic form of common disorder
- Complex disorders
- Study design
- Candidate genes or whole genome
- Genome-wide association studies
- A new dawn for genetics of complex disorders and traits
- Relationship between allele frequency and effect size
- Genetic architecture of common disease
- Translation of genomic discoveries
- Potential advantages of genetic tests
- Predictive genetic screening for CHD
- Low penetrance polymorphisms
- Multiple risk alleles
- Why genetic testing might perform poorly as a discriminatory test
- Genotype and prediction of CHD
- Using genotype to gain insight into the causes of CHD
- Unique properties of genotype
- Novel biomarkers and CVD
- CVD and the translational gap
- Attrition of new molecular entities
- Association of a quantitative trait with clinical events may have a non-causal explanation
- Investigating causal role through experimentation
- Validation of a drug target requires experimentation
- Non-experimental studies in humans
- The "cholesterol myth"
- Identification and validation of a "drug-target"
- The final arbiter of the validity of the therapeutic target is the RCT in humans
- Nature's randomized trials
- Homocysteine and stroke
- Triangulation between genotype, biochemical risk marker and event rate
- Mendelian randomization
Links
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Talk Citation
Hingorani, A. (2008, December 18). Translational applications of cardiovascular genomics: opportunities and challenges [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2024, from https://doi.org/10.69645/GAID3730.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Aroon Hingorani has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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