Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Cardiovascular disease
3. Monogenic form of common disorder
4. Single gene disorders and cardiovascular disease
5. Genetic basis of the common form of CHD
6. Polygenic form of common disorder
7. Common forms of cardiovascular disease
8. CHD study design
9. Candidate genes or whole genome
10. Genome wide association studies
11. Case and control
12. SNPs on chromosome 9 associated with CHD
13. A new dawn for genetics of complex disorders
14. A new dawn for genetics of complex traits
15. Allele frequency and effect size (1)
16. Allele frequency and effect size (2)
17. Genetic architecture of common disease
18. Translation of genomic discoveries
19. Genotype knowledge predicting risk of disease
20. Potential advantages of genetic tests
21. The problem
22. Hypothetical population and a perfect test
23. A perfect test (cont.)
24. A less than perfect test (1)
25. A less than perfect test (2)
26. A genetic test (1)
27. A genetic test (2)
28. Rare, high penetrance mut. - population screening
29. Rare, high penetrance mut. - family screening
30. Another genetic test (1)
31. Another genetic test (2)
32. Apolipoprotein E as a genetic marker
33. Predictive genetic screening for CHD (1)
34. Predictive genetic screening for CHD (2)
35. Multiple risk alleles
36. Genetic profiling perform poorly as a discriminator
37. Genotype and prediction of CHD
38. Translation of genomic discoveries
39. Unique properties of genotype
40. Novel biomarkers and cardiovascular disease
41. Cardiovascular disease and the translational gap
42. Non-causal explanations
43. Investigating causal role through experimentation
44. Non-experimental studies in humans
45. "The cholesterol myth"
46. Identification and validation of a "drug-target"
47. The final arbiter of the validity - RCT in humans
48. Observational studies and RCTs of statin drugs
49. Attrition of new molecular entities
50. "Nature's randomised trials"
51. Homocysteine and stroke
52. Possible explanations of this observation
53. Difference in Hcy according to genotypes
54. Random allocation of MTHFR genotypes
55. Genotype, risk marker and event rate (1)
56. Genotype, risk marker and event rate (2)
57. Observed genetic effect and observational studies
58. LDL-C and CHD: Mendelian randomisation study
59. Mendelian randomisation: a historical perspective
60. 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

Series:

• Genetics of Cardiovascular Disease

Categories:

• Clinical Practice
• Genetics & Epigenetics

Therapeutic Areas:

• Cardiovascular & Metabolic

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 May 29, 2025, from https://doi.org/10.69645/GAID3730.
Export Citation (RIS)

Publication History

• Published on December 18, 2008
• Archived on May 28, 2025

Financial Disclosures

• Dr. Aroon Hingorani has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.