• Epidemiology and Risk Factors
• 23 min
  1. Coronary heart disease epidemiology: global context for a new genetic understanding

  • Prof. Harry Hemingway
• 44 min
  2. Cardiovascular risk factors

  • Dr. Michal Vrablik
• 65 min
  3. Lipoproteins

  • Prof. Arnold von Eckardstein
• 39 min
  4. Thrombotic risk factors for cardiovascular disease

  • Prof. Gordon Lowe
• 20 min
  5. Lipoprotein(a)

  • Dr. Jaimini Cegla
• Biology of Coronary Heart Disease
• 42 min
  6. Plaque rupture

  • Prof. Petri Kovanen
• 56 min
  7. Transcription factors and complex disease development

  • Dr. Ines Pineda-Torra
• 39 min
  8. Animal models to explore cardiovascular disease

  • Prof. Martin Merkel
• Treatment
• 26 min
  9. Diagnosis and treatment of dyslipidemias

  • Prof. Anton Stalenhoef
• 31 min
  10. Key drug discovery challenges in cardiovascular medicine

  • Dr. Dan Swerdlow
  • Dr. Michael V. Holmes
• Genetics
• 50 min
  11. Moving from GWAS hits to functional variants

  • Prof. Steve Humphries
• 51 min
  12. Heart disease genes and SNPs

  • Prof. Steve Humphries
• 39 min
  13. Familial hypercholesterolaemia: genetic causes and treatment

  • Prof. Steve Humphries
• 22 min
  14. Familial hypercholesterolaemia: cascade testing and monogenic vs. polygenic causes

  • Prof. Steve Humphries
• 28 min
  15. Familial hypercholesterolaemia: case studies, universal screening and novel mutations

  • Prof. Steve Humphries
• 52 min
  16. Genetics of cardiovascular disease

  • Prof. Philippa Talmud
• 54 min
  17. The genetics of CHD: moving research findings into patient benefit

  • Prof. Steve Humphries
• 35 min
  18. Mendelian randomisation: using genetics to determine causality

  • Dr. Tina Shah
• 33 min
  19. The genetics of abdominal aortic aneurysm

  • Dr. Seamus Harrison
• 49 min
  20. Genome scans for hypertension

  • Prof. Patricia Munroe
• 43 min
  21. Telomeres and cardiovascular disease

  • Dr. Jess Buxton
• 33 min
  22. Translational applications of cardiovascular genomics: opportunities and challenges

  • Dr. Aroon Hingorani
• 26 min
  23. Genetics of hypertrophic cardiomyopathy (HCM)

  • Dr. Petros Syrris
• Archived Lectures *These may not cover the latest advances in the field
• 44 min
  24. Gene-environment interaction and oxidative stress in cardiovascular disease

  • Dr. Jeffrey Stephens
• 34 min
  25. Gene therapy as a therapeutic option for lipoprotein lipase deficiency

  • Dr. Jan Albert Kuivenhoven
• 60 min
  26. Cardiovascular diseases: from epidemiology to nutritional interventions

  • Dr. Antonis Zampelas
• 45 min
  27. Genetic testing for CHD risk: fact or fiction?

  • Prof. Steve Humphries
• 35 min
  28. Pharmacogenetics: progress, pitfalls and clinical potential

  • Prof. Steve Humphries
• 50 min
  29. Familial hyperchlolesterolaemia: a monogenic cause of early CHD

  • Prof. Steve Humphries
• 29 min
  30. Lipid metabolism

  • Dr. Ulrike Beisiegel

Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Outline (1)
3. Lipoprotein lipase biology
4. Consequences of loss of LPL activity
5. Genetic LPL deficiency
6. Clinical phenotype of LPL deficiency
7. Gene therapy for LPL deficient patients
8. Outline (2)
9. Gene replacement
10. Vector - adeno-associated virus
11. Transgene - LPLS447X
12. AMT-010 vector
13. Vector production
14. Proof of principle in LPL deficient mice
15. Proof of principle in LPL deficient mice - long term
16. AMT010 in LPL deficient mice - dose dependency
17. Feline LPL deficiency
18. Vector administration
19. Proof of principle in LPL deficient cats
20. LPL deficient cats - antibodies development
21. LPL deficient cats - immunosuppression (1)
22. LPL deficient cats - immunosuppression (2)
23. Gene delivery to myoblasts
24. Infection of myoblasts with AMT010
25. Conclusions for clinical trial
26. Outline (3)
27. Premonitoring study (1)
28. Premonitoring study (2)
29. Clinical trial
30. Clinical trial - design & inclusion criteria
31. Clinical trial - baseline characteristics
32. Clinical trial - gene defects and baseline
33. Administration of AMT-010
34. Clinical trial - safety analyses
35. Aknowledgements

Topics Covered

• No treatment for genetic lipoprotein lipase (LPL) deficiency
• This disorder has several specific characteristics which make it a feasible target for gene therapy approaches
• Development of LPL transgene delivery
• Use of adeno-associated virus

Links

Series:

• Genetics of Cardiovascular Disease

Categories:

• Clinical Practice
• Pharmaceutical Sciences

Therapeutic Areas:

• Cardiovascular & Metabolic

Talk Citation

Publication History

• Published on November 24, 2008
• Archived on February 25, 2021

Financial Disclosures

• Dr. Jan Albert Kuivenhoven has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.