• Basic Concepts
• 19 min
  1. Molecular structure of the human genome

  • Prof. Jonathan Wolfe
• 31 min
  2. Introduction to mutation and disease

  • Prof. Jonathan Wolfe
• 26 min
  3. Introduction to genetic diseases

  • Prof. Jonathan Wolfe
• 26 min
  4. Historical introduction to human diversity I

  • Prof. Dallas Swallow
• 28 min
  5. Historical introduction to human diversity II

  • Prof. Dallas Swallow
• 23 min
  6. Introduction to cytogenetics 1

  • Dr. Sioban SenGupta
• 15 min
  7. Introduction to cytogenetics 2

  • Dr. Sioban SenGupta
• 16 min
  8. Introduction to cytogenetics 3

  • Dr. Sioban SenGupta
• 42 min
  9. The Y-chromosome

  • Prof. Mark Jobling
• 42 min
  10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases

  • Prof. Immo Scheffler
• 66 min
  11. Mechanisms of DNA repair by recombination

  • Prof. James Haber
• 26 min
  12. Techniques utilized in molecular genetics

  • Dr. Cecil Lewis
• 36 min
  13. Genome mapping

  • Dr. Simon Gregory
• 35 min
  14. Copy number variation

  • Dr. Ömer Gökçümen
• Genetics and Disease
• 45 min
  15. Genetic association studies

  • Prof. David Balding
• 42 min
  16. Quantitative genetics and multifactorial inheritance

  • Dr. Lara Bauman
• Human Evolutionary Genetics
• 34 min
  17. Population genetics

  • Dr. Murray P. Cox
• 59 min
  18. Inference on human history through DNA

  • Prof. Guido Barbujani
• 37 min
  19. Human adaptation

  • Prof. Rasmus Nielsen
• Specialized Topics
• 44 min
  20. Accessing and using ENCODE data

  • Prof. Peggy Farnham
• 44 min
  21. Pharmacogenetics

  • Prof. Ann Daly
• 33 min
  22. Genetics in forensics

  • Dr. Angel Carracedo
• 29 min
  23. The development and evolution of human gene therapy

  • Prof. Theodore Friedmann
• 33 min
  24. Next generation sequencing technologies

  • Dr. Krishna Veeramah

Printable Handouts

PDF

Navigable Slide Index

1. Introduction
2. Treatment of human disease
3. Gregor Mendel - 1865
4. Archibald Garrod 1908
5. Mutation, disease & therapeutic approaches
6. DNA structure discovery
7. Can DNA be a therapeutic agent?
8. Lesch-Nyhan disease
9. Metabolic pathway of Lesch-Nyhan disease
10. Can we modify cells with foreign DNA? (1)
11. Can we modify cells with foreign DNA? (2)
12. HPRT(-) cells can't incorporate hypoxanthine
13. Transient HPRT expression after transfection
14. Viruses as vectors
15. Converting normal cells into tumor cells with a virus
16. 1972 - human gene therapy paper
17. Gene transfer by retrovirus
18. Retroviral vector corrects a disease phenotype
19. Different vectors for transferring DNA into cells
20. Extensive regulation and oversight
21. Optimism about human gene therapy (1)
22. Optimism about human gene therapy (2)
23. A difficult controversial beginning
24. Criticism against human gene therapy
25. Gene transfer trials by year
26. Death from gene therapy trial - 1999 (1)
27. Death from gene therapy trial - 1999 (2)
28. Severe combined immunodeficiency diseases
29. Texas bubble boy
30. SCID-X1; Gamma-c deficiency
31. Success, but at a cost
32. A vector integrated foreign DNA into the lmo2 gene
33. Leber's congenital amaurosis
34. Why do children with Leber's not see?
35. rRPE65 defect in a dog model
36. Sub-retinal injection of AAV2.hRPE65v2
37. Gene therapy for Leber's amaurosis
38. Summary - the reality of gene therapy

Topics Covered

• Background in genetic concepts
• Application by Sir Archibald Garrod to human disease
• Discovery of the structure of DNA and new opportunities to understand and manipulate genes
• Proof of principle of gene transfer into human cells using the Lesch Nyhan disease model
• Rapid expansion of clinical gene therapy trials, high level of optimism and expectation
• Major setback in human OTC gene therapy study
• Patient death
• Scientific and clinical success with another disease model
• Severe combined immunodeficiency (SCID)
• Setback in SCID
• Leukemia in some treated patients
• Additional clinical successes, especially in Leber's congenital blindness

Links

Series:

• Introduction to Human Genetics

Categories:

• Clinical Practice
• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

• Published on October 18, 2010

Financial Disclosures

• Prof. Theodore Friedmann has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.