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- Epidemiology and Risk Factors
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23 min
1. Coronary heart disease epidemiology: global context for a new genetic understanding- Prof. Harry Hemingway
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44 min
2. Cardiovascular risk factors- Dr. Michal Vrablik
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65 min
3. Lipoproteins- Prof. Arnold von Eckardstein
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39 min
4. Thrombotic risk factors for cardiovascular disease- Prof. Gordon Lowe
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20 min
5. Lipoprotein(a)- Dr. Jaimini Cegla
- Biology of Coronary Heart Disease
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42 min
6. Plaque rupture- Prof. Petri Kovanen
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56 min
7. Transcription factors and complex disease development- Dr. Ines Pineda-Torra
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39 min
8. Animal models to explore cardiovascular disease- Prof. Martin Merkel
- Treatment
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26 min
9. Diagnosis and treatment of dyslipidemias- Prof. Anton Stalenhoef
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31 min
10. Key drug discovery challenges in cardiovascular medicine- Dr. Dan Swerdlow
- Dr. Michael V. Holmes
- Genetics
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50 min
11. Moving from GWAS hits to functional variants- Prof. Steve Humphries
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51 min
12. Heart disease genes and SNPs- Prof. Steve Humphries
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39 min
13. Familial hypercholesterolaemia: genetic causes and treatment- Prof. Steve Humphries
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22 min
14. Familial hypercholesterolaemia: cascade testing and monogenic vs. polygenic causes- Prof. Steve Humphries
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28 min
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52 min
16. Genetics of cardiovascular disease- Prof. Philippa Talmud
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54 min
17. The genetics of CHD: moving research findings into patient benefit- Prof. Steve Humphries
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35 min
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33 min
19. The genetics of abdominal aortic aneurysm- Dr. Seamus Harrison
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49 min
20. Genome scans for hypertension- Prof. Patricia Munroe
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43 min
21. Telomeres and cardiovascular disease- Dr. Jess Buxton
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33 min
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26 min
23. Genetics of hypertrophic cardiomyopathy (HCM)- Dr. Petros Syrris
- Archived Lectures *These may not cover the latest advances in the field
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44 min
24. Gene-environment interaction and oxidative stress in cardiovascular disease- Dr. Jeffrey Stephens
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34 min
25. Gene therapy as a therapeutic option for lipoprotein lipase deficiency- Dr. Jan Albert Kuivenhoven
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60 min
26. Cardiovascular diseases: from epidemiology to nutritional interventions- Dr. Antonis Zampelas
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45 min
27. Genetic testing for CHD risk: fact or fiction?- Prof. Steve Humphries
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35 min
28. Pharmacogenetics: progress, pitfalls and clinical potential- Prof. Steve Humphries
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50 min
29. Familial hyperchlolesterolaemia: a monogenic cause of early CHD- Prof. Steve Humphries
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29 min
30. Lipid metabolism- Dr. Ulrike Beisiegel
Printable Handouts
Navigable Slide Index
- Introduction
- Talk outline
- Pharmacogenetics: vision of the future?
- Pharmacogenetics and clinical potential
- Major potential areas of patient benefit
- Treatment of high blood cholesterol by statins
- Pharmacogenetics of statin response (1)
- Pharmacogenetics of statin response (2)
- Better-than-average response: LDL plasma levels
- Better-than-average response: inflammation
- WOSCOPS study
- Pharmacogenetics - IL6 genotype and CHD risk
- Better-than-average response: conclusions
- Pharmacogenetics - pitfalls
- The REGRESS trial and CETP genotype (1)
- The REGRESS trial and CETP genotype (2)
- CETP TaqI meta-analysis
- CETP TaqI - pravastatin meta-analysis
- Use of pharmacogenetics to avoid side-effects
- Warfarin, CYP2C9*3 and avoiding bleeds
- The TPT trial and bleeds by CYP2C9 genotype
- Ethical concerns: pharmacogenetics and ethnicity
- Summary: progress, pitfalls and clinical potential
Topics Covered
- Therapeutic index, genetic variation determining codine and thiopurine metabolism
- Pharmacogenetics and statin response, involvement of HMG co-reductase
- Statin response in patients with FH
- Anti-inflammatory effects of statins and the IL-6 gene
- Pravastatin and CETP genotype
- Initial studies
- Pravastatin and CETP genotype
- Meta-analysis results
- Use of pharmacogenetics to avoid side effects
- Warfarin and CYP2C9 as an example
- Ethical concerns
Links
Series:
Categories:
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Talk Citation
Humphries, S. (2008, November 24). Pharmacogenetics: progress, pitfalls and clinical potential [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved March 21, 2025, from https://doi.org/10.69645/HWLE7854.Export Citation (RIS)
Publication History
Financial Disclosures
- Professor Humphries is the Medical Director of StoreGene a UCL spin out company that offers DNA testing for Cardiovascular Disease risk including testing for FH. Professor Humphries is a consultant for Verve Therapeutics, a US based company that is developing gene-editing agents to treat individuals with hypercholesterolaemia, including those with FH.
