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1. Introduction
2. In real estate... location
3. In human genetics... phenotype
4. DNA and data
5. Sources of DNA
6. Alternatives to blood
7. Blood alternatives - advantages and disadvantages
8. Whole genome amplification
9. Type of subject and data
10. Approaches to finding disease genes
11. Recessive disease pedigree
12. Homozygocity mapping
13. Whole genome analysis of genetic disease
14. Complex diseases
15. Sib pair analysis
16. Sib pairs analysis - advantages and disadvantages
17. One gene/many genes
18. Gradation of CFTR function
19. ABCA4 expression in retina
20. Stargardt macular dystrophy
21. Collection of Stargardt disease families
22. ABCA4 mutation and Stargardt disease
23. ABCA4 mutation in retinitis pigmentosum
24. ABCA4 mutation in cone rod dystrophy
25. Gradation of ABCA4 function
26. Stargardt/AMD pedigrees
27. Age-related macular degeneration
28. Stargardt and AMD pathology
29. ABCA4 mutations
30. Association of the two ABCA4 variants with AMD
31. AMD and decreased function of ABCA4
32. Visual cycle with normal ABCA4
33. Visual cycle with mutant ABCA4
34. Potential STGD therapy
35. Accutane treatment of ABCA4-/- mice
36. Mutations in various genes - same phenotype
37. Components of the visual cycle
38. Types of candidate genes
39. Complement factor H
40. Membranoproliferative glomerulonephritis
41. CFH in AMD eyes
42. AMD - HF1 SNP associations
43. HF1 haplotype association
44. Other approaches
45. AMD genome scan
46. An example for an infectious disease
47. HIV response genes
48. CCR5-delta32 allele
49. CCR5-delta32 and HIV resistance
50. CCR2 V64I and CCR5-delta32 survival curve
51. HIV entry inhibitors
52. Commonness or effectiveness of the alleles
53. Variants influencing complex disease
54. Alleles associated with common disorders
55. Both common and effective alleles can be found
56. Pathogens and complex disease
57. Conclusions
58. Summary

Topics Covered

• DNA collection and isolation
• Approaches to human genetics
• Complex diseases
• Example of a Mendelian disease gene that led to a complex disease gene, ABCA4: Stargardt Disease and age-related macular degeneration
• Degeneration example of complement genes and retinal degeneration
• Infectious disease and host response genes
• CCR5 and HIV-1 resistance and AIDS progression: common variants, rare variants or both?

Links

Series:

• Using Bioinformatics in the Exploration of Genetic Diversity

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on October 28, 2018

Financial Disclosures

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