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- Introduction to Genetic Diversity
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1. The sources of genomic diversity
- Dr. George Nelson
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2. Bioinformatics tools in conservation biology
- Dr. Mahmood Shivji
- Mr. Vincent Richards
- Populations, Samples and Biological Databases
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3. Specimen banking: saving for the future
- Ms. Elaine Gunter
- Bioinformatics and Genome Analysis
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4. Accessing and using ENCODE data
- Prof. Peggy Farnham
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5. Information content in sequences and its relation to protein structure prediction
- Dr. Rosemarie Swanson
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6. Pattern discovery in bioinformatics
- Prof. Giri Narasimhan
- Human Disease
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7. Genes in common diseases
- Prof. Jennie Lou
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8. The impact of genomic architecture and diversity on infectious diseases
- Prof. Vincent Chow
- Dr. Meena Sakharkar
- Archived Lectures *These may not cover the latest advances in the field
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10. Unity and diversity in microbial genomes
- Dr. Kishore Sakharkar
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13. Widespread structural variations in the human genome
- Dr. Charles Lee
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14. Human genome variation
- Dr. Kelly Frazer
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15. Human genetic variation and therapeutic development
- Dr. Sally John
- Dr. Nick Davies
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17. Population genetics studies in Africa: curiosity and challenges
- Prof. Himla Soodyall
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18. Sample collection for human genetics
- Dr. Michael Dean
Printable Handouts
Navigable Slide Index
- Introduction
- In real estate... location
- In human genetics... phenotype
- DNA and data
- Sources of DNA
- Alternatives to blood
- Blood alternatives - advantages and disadvantages
- Whole genome amplification
- Type of subject and data
- Approaches to finding disease genes
- Recessive disease pedigree
- Homozygocity mapping
- Whole genome analysis of genetic disease
- Complex diseases
- Sib pair analysis
- Sib pairs analysis - advantages and disadvantages
- One gene/many genes
- Gradation of CFTR function
- ABCA4 expression in retina
- Stargardt macular dystrophy
- Collection of Stargardt disease families
- ABCA4 mutation and Stargardt disease
- ABCA4 mutation in retinitis pigmentosum
- ABCA4 mutation in cone rod dystrophy
- Gradation of ABCA4 function
- Stargardt/AMD pedigrees
- Age-related macular degeneration
- Stargardt and AMD pathology
- ABCA4 mutations
- Association of the two ABCA4 variants with AMD
- AMD and decreased function of ABCA4
- Visual cycle with normal ABCA4
- Visual cycle with mutant ABCA4
- Potential STGD therapy
- Accutane treatment of ABCA4-/- mice
- Mutations in various genes - same phenotype
- Components of the visual cycle
- Types of candidate genes
- Complement factor H
- Membranoproliferative glomerulonephritis
- CFH in AMD eyes
- AMD - HF1 SNP associations
- HF1 haplotype association
- Other approaches
- AMD genome scan
- An example for an infectious disease
- HIV response genes
- CCR5-delta32 allele
- CCR5-delta32 and HIV resistance
- CCR2 V64I and CCR5-delta32 survival curve
- HIV entry inhibitors
- Commonness or effectiveness of the alleles
- Variants influencing complex disease
- Alleles associated with common disorders
- Both common and effective alleles can be found
- Pathogens and complex disease
- Conclusions
- 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:
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Talk Citation
Dean, M. (2007, October 1). Sample collection for human genetics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved March 20, 2025, from https://doi.org/10.69645/BHOT4369.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Michael Dean has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.