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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
- FH diagnosis in family Y (1)
- Diagnosis of FH
- Genes involved in cholesterol metabolism
- LDL-r protein and LDLR gene arrangement
- Second FH-causing gene: ApoB
- The third FH gene: NARC-1 - PCSK9
- How statins work
- Are statins effective in patients with FH?
- Do statins reduce CHD in FH patients?
- How common is FH in UK? expect 1/500
- FH - five key facts
- DNA testing for FH - current status
- DNA testing for common mutations
- DNA screening for common deletions
- Screening strategy for FH samples
- UCL 2007 database of published LDLR mutations
- FH diagnosis in family Y (2)
- Confirming FH diagnosis in family Y
- Genetic diagnosis in FH family M
- Cascade testing (CT) for FH patients
- The overlap problem
- LDL-C in FH and non-FH, analysed by age
- Will DNA testing influence patient management?
- FH cascade testing (CT) is being started in UK
- Recommendations
- Clinical utility of DNA tests in FH
- The BHF-Simon Broome FH project
- Mutation type and cholesterol levels
- CHD risk and the specific mutation
- Clinical questions in FH management: adults
- Clinical questions in FH management: childhood
- Perception of genetic risk information
- Psychological impact of DNA testing in FH
- FH and eligibility for life insurance
- Test FH patient characteristics
- Test FH patient excess rating
- FH and DNA-based testing: conclusions
Topics Covered
- Clinical diagnostic criteria
- Prevalence in UK
- Effects of statins on cholesterol and CHD risk lowering
- The 3 genes where mutations cause FH (LDLR, APOB, PCSK9)
- Clinical Genetics Diagnostic service for FH and examples in families
- Cascade testing for FH patients using LDL cholesterol levels
- The Overlap problem
- The Simon Broome FH register project and the high risk of early CHD in those with an LDLR and PCSK9 mutation
- The LDLR mutation database
- Ethical issues about genetic testing for FH
- Clinical questions in the management of FH
- FH testing and insurance
Links
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Talk Citation
Humphries, S. (2008, November 24). Familial hyperchlolesterolaemia: a monogenic cause of early CHD [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved March 21, 2025, from https://doi.org/10.69645/WWAA8315.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.
