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              - Archived Lectures *These may not cover the latest advances in the field
- 
                                
                                1. Introduction to cytogenetics 3- Dr. Sioban SenGupta
 
- 
                                
                                2. Population genetics- Dr. Murray P. Cox
 
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                                3. Inference on human history through DNA- Prof. Guido Barbujani
 
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                                4. Human adaptation- Prof. Rasmus Nielsen
 
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                                5. Accessing and using ENCODE data- Prof. Peggy Farnham
 
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                                6. Pharmacogenetics- Prof. Ann Daly
 
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                                7. Genetics in forensics- Dr. Angel Carracedo
 
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                                8. The development and evolution of human gene therapy- Prof. Theodore Friedmann
 
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                                9. Next generation sequencing technologies- Dr. Krishna Veeramah
 
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                                10. Copy number variation- Dr. Ömer Gökçümen
 
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                                11. Molecular structure of the human genome- Prof. Jonathan Wolfe
 
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                                12. Genome mapping- Dr. Simon Gregory
 
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                                13. Mitochondrial DNA, molecular genetics and human mitochondrial diseases- Prof. Immo Scheffler
 
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                                14. Techniques utilized in molecular genetics- Dr. Cecil Lewis
 
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                                15. Introduction to mutation and disease- Prof. Jonathan Wolfe
 
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                                16. Introduction to genetic diseases- Prof. Jonathan Wolfe
 
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                                17. Introduction to cytogenetics 2- Dr. Sioban SenGupta
 
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                                18. Introduction to cytogenetics 1- Dr. Sioban SenGupta
 
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                                19. Genetic association studies- Prof. David Balding
 
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                                20. The Y-chromosome- Prof. Mark Jobling
 
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                                21. Quantitative genetics and multifactorial inheritance- Dr. Lara Bauman
 
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                                22. Historical introduction to human diversity II- Prof. Dallas Swallow
 
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                                23. Mechanisms of DNA repair by recombination- Prof. James Haber
 
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                                24. Historical introduction to human diversity I- Prof. Dallas Swallow
 
Printable Handouts
Navigable Slide Index
- Introduction
- Cystic fibrosis
- Cystic fibrosis: survival
- Positional cloning
- Linkage analysis
- Pedigree analysis
- Further linkage analysis
- Step 1: chromosome walking to make a contig
- Chromosome jumping
- The resulting contig
- Step 2: Identification of candidate genes: Zoo blot
- Zoo blots
- Identification of candidate genes: Northern blots
- Northern blots
- Identifying the cystic fibrosis gene: conclusions
- Mutations in CFTR
- Identifying the cystic fibrosis gene: summary
- Remaining questions
- Duchenne muscular dystrophy
- Translocation between chromosomes X and 21
- Subtractive cloning
- Subtractive cloning using PERT
- Role of dystrophin
- References
Topics Covered
- Cystic fibrosis
- Survival
- Positional cloning
- Linkage analysis
- Pedigree analysis
- Zoo blots
- Northern blots
- Mutations
- Duchenne muscular dystrophy
- Translocation
- Subtractive cloning between chromosome X and chromosome 21
- Role of Dystrophin
Talk Citation
Wolfe, J. (2009, December 28). Introduction to genetic diseases [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2025, from https://doi.org/10.69645/WTDA5396.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Jonathan Wolfe has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
 
       
    























 
                    
                     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
    