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See webinar details- Introduction to Genetic Diversity
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72 min
1. The sources of genomic diversity- Dr. George Nelson
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27 min
2. Bioinformatics tools in conservation biology- Dr. Mahmood Shivji
- Mr. Vincent Richards
- Populations, Samples and Biological Databases
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48 min
3. Specimen banking: saving for the future- Ms. Elaine Gunter
- Bioinformatics and Genome Analysis
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44 min
4. Accessing and using ENCODE data- Prof. Peggy Farnham
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47 min
5. Information content in sequences and its relation to protein structure prediction- Dr. Rosemarie Swanson
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40 min
6. Pattern discovery in bioinformatics- Prof. Giri Narasimhan
- Human Disease
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38 min
7. Genes in common diseases- Prof. Jennie Lou
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42 min
8. The impact of genomic architecture and diversity on infectious diseases- Prof. Vincent Chow
- Dr. Meena Sakharkar
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29 min
- Archived Lectures *These may not cover the latest advances in the field
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29 min
10. Unity and diversity in microbial genomes- Dr. Kishore Sakharkar
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38 min
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39 min
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59 min
13. Widespread structural variations in the human genome- Dr. Charles Lee
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39 min
14. Human genome variation- Dr. Kelly Frazer
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36 min
15. Human genetic variation and therapeutic development- Dr. Sally John
- Dr. Nick Davies
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62 min
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42 min
17. Population genetics studies in Africa: curiosity and challenges- Prof. Himla Soodyall
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37 min
18. Sample collection for human genetics- Dr. Michael Dean
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40 min
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
Series:
Categories:
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 20, 2024, from https://hstalks.com/bs/482/.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.
