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Printable Handouts
Navigable Slide Index
- Introduction
- Human genetic variation
- Public database archive
- dbSNP
- Drug discovery pipeline - implications
- Drug discovery pipeline
- Most efficacious medicines
- Human variation - drug discovery pipeline
- Defining targets
- A good target will play a role in disease pathology
- Family and population based methods
- Genetic association studies
- Evidence for association
- Genes confer low genetic relative risks (GRR)
- Which SNPs to type?
- Haplotype tagging SNPs
- LD, haplotype estimation and tagging SNPs
- The "druggable" genome
- Whole genome by association
- Clinical trials - predicting efficacy and safety
- Phase 1 understanding drug ADME properties
- Azathioprine and chronic inflammatory disease
- Variation and metabolism l
- CYP gene family variation
- Variation and metabolism ll
- Phase 2,3 will it work?
- Atypical anti-psychotics and schizophrenia
- Genome by association list for pharmacogenetics
- Genotyping methods must be high-throughput
- Tagging SNPs efficacy & disease allele frequency
- Magnitude of effect size and multiple testing
- Functional relevance of genetic variation
- Non-synonymous coding SNPs
- Allele specific differential gene expression
- Conserved non-coding sequences (CNC)
- Implication for future treatments
- Redefining disease
- Future treatment approaches
- Increased benefits for patients
- Marketed targeted treatments
- Targeted treatments - overview
- 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
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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 November 23, 2024, from https://doi.org/10.69645/DKAL1609.Export Citation (RIS)
Publication History
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.