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Navigable Slide Index

1. Introduction
2. Human genetic variation
3. Public database archive
4. dbSNP
5. Drug discovery pipeline - implications
6. Drug discovery pipeline
7. Most efficacious medicines
8. Human variation - drug discovery pipeline
9. Defining targets
10. A good target will play a role in disease pathology
11. Family and population based methods
12. Genetic association studies
13. Evidence for association
14. Genes confer low genetic relative risks (GRR)
15. Which SNPs to type?
16. Haplotype tagging SNPs
17. LD, haplotype estimation and tagging SNPs
18. The "druggable" genome
19. Whole genome by association
20. Clinical trials - predicting efficacy and safety
21. Phase 1 understanding drug ADME properties
22. Azathioprine and chronic inflammatory disease
23. Variation and metabolism l
24. CYP gene family variation
25. Variation and metabolism ll
26. Phase 2,3 will it work?
27. Atypical anti-psychotics and schizophrenia
28. Genome by association list for pharmacogenetics
29. Genotyping methods must be high-throughput
30. Tagging SNPs efficacy & disease allele frequency
31. Magnitude of effect size and multiple testing
32. Functional relevance of genetic variation
33. Non-synonymous coding SNPs
34. Allele specific differential gene expression
35. Conserved non-coding sequences (CNC)
36. Implication for future treatments
37. Redefining disease
38. Future treatment approaches
39. Increased benefits for patients
40. Marketed targeted treatments
41. Targeted treatments - overview
42. Summary

Topics Covered

• Common variation within the human genome
• The drug discovery pipeline
• The contribution of genetic variation to target identification, validation and clinical development
• Defining drug targets
• Genotype phenotype correlation
• The druggable genome
• Clinical trials
• Whole genome by association methods
• Functional relevance of genetic variation
• Implications for treatments

Links

Series:

• Using Bioinformatics in the Exploration of Genetic Diversity

Categories:

• Genetics & Epigenetics
• Pharmaceutical Sciences

Talk Citation

John, S. and Davies, N. (2007, October 1). Human genetic variation and therapeutic development [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/DKAL1609.
Export Citation (RIS)

Publication History

• Published on October 1, 2007
• Archived on May 31, 2018

Financial Disclosures

• Dr. Sally John has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
• Dr. Nick Davies has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.