Registration for a live webinar on 'Neuroleptic malignant syndrome' is now open.
See webinar detailsWe noted you are experiencing viewing problems
-
Check with your IT department that JWPlatform, JWPlayer and Amazon AWS & CloudFront are not being blocked by your network. The relevant domains are *.jwplatform.com, *.jwpsrv.com, *.jwpcdn.com, jwpltx.com, jwpsrv.a.ssl.fastly.net, *.amazonaws.com and *.cloudfront.net. The relevant ports are 80 and 443.
-
Check the following talk links to see which ones work correctly:
Auto Mode
HTTP Progressive Download Send us your results from the above test links at access@hstalks.com and we will contact you with further advice on troubleshooting your viewing problems. -
No luck yet? More tips for troubleshooting viewing issues
-
Contact HST Support access@hstalks.com
-
Please review our troubleshooting guide for tips and advice on resolving your viewing problems.
-
For additional help, please don't hesitate to contact HST support access@hstalks.com
We hope you have enjoyed this limited-length demo
This is a limited length demo talk; you may
login or
review methods of
obtaining more access.
- Basic Concepts
-
1. Molecular structure of the human genome
- Prof. Jonathan Wolfe
-
2. Introduction to mutation and disease
- Prof. Jonathan Wolfe
-
3. Introduction to genetic diseases
- Prof. Jonathan Wolfe
-
4. Historical introduction to human diversity I
- Prof. Dallas Swallow
-
5. Historical introduction to human diversity II
- Prof. Dallas Swallow
-
6. Introduction to cytogenetics 1
- Dr. Sioban SenGupta
-
7. Introduction to cytogenetics 2
- Dr. Sioban SenGupta
-
8. Introduction to cytogenetics 3
- Dr. Sioban SenGupta
-
9. The Y-chromosome
- Prof. Mark Jobling
-
10. Mitochondrial DNA, molecular genetics and human mitochondrial diseases
- Prof. Immo Scheffler
-
11. Mechanisms of DNA repair by recombination
- Prof. James Haber
-
12. Techniques utilized in molecular genetics
- Dr. Cecil Lewis
-
13. Genome mapping
- Dr. Simon Gregory
-
14. Copy number variation
- Dr. Ömer Gökçümen
- Genetics and Disease
-
15. Genetic association studies
- Prof. David Balding
-
16. Quantitative genetics and multifactorial inheritance
- Dr. Lara Bauman
- Human Evolutionary Genetics
-
17. Population genetics
- Dr. Murray P. Cox
-
18. Inference on human history through DNA
- Prof. Guido Barbujani
-
19. Human adaptation
- Prof. Rasmus Nielsen
- Specialized Topics
-
20. Accessing and using ENCODE data
- Prof. Peggy Farnham
-
21. Pharmacogenetics
- Prof. Ann Daly
-
22. Genetics in forensics
- Dr. Angel Carracedo
-
23. The development and evolution of human gene therapy
- Prof. Theodore Friedmann
-
24. Next generation sequencing technologies
- Dr. Krishna Veeramah
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 12, 2024, 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.