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Good Genes Gone Bad: Common Familial Diseases

  • Access the Human Genome Project: http://www.ornl.gov/sci/techresources/Human_Genome/home.shtml
  • Click on Gene Gateway: Download the Gene Gateway Workbook (I do not recommend printing this document as it is very long.)
  • View some pedigrees associated with specific diseases: http://www.ncbi.nlm.nih.gov/images


For this assignment, you will investigate one disease that can be passed through a family that may increase a person’s risk of developing the disease at some point in his or her life. You will prepare a Power Point Presentation.

This activity is as follows:

  1. Identify a disease that interests you (except hemochromatosis). Some examples might include sickle cell disease, cystic fibrosis, Lynch syndrome, or a BRCA I/II mutation. These are only examples and you are free to choose any disease that may interest you.

i. Identify the disease you choose to investigate

ii. Why did you choose this disease?

iii. Helpful websites:

  1. http://staff.washington.edu/sbtrini/Caselist.shtml has a list of different cases that might help you choose a disease to investigate.
  2. http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=genetests
  3. Genetics of the Disease: http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests
  4. Research the genetic component(s) responsible for transmission between generations, and identify some likely candidates for causing the disease (sometimes there are multiple genes causing the same problem). Is the mutation a dominant or recessive trait? Is it sex-linked (located on the X or Y chromosome)?
  5. Describe the disease and how it might affect a person’s anatomy and physiology (what is the disease, what organs does it affect and what complications can it cause, and why?).
  6. Investigate the various components of the Human Genome Project as it relates to the mutation and the impact on the resulting protein.
  7. Discuss the probability of inheriting the disease (disease development can be dependent on whether the mutation is dominant, recessive or sex-linked).
  8. Personal perspective:
    1. If you had a family history of this disease, would you take advantage of a genetic test if it told you the probability of passing the disease to your offspring (children)? Why or why not?
    2. What did you learn from this assignment?
    3. References (you should include the Human Genome Project links and your textbook, at a minimum)
    4. Format the information as a Microsoft PowerPoint presentation with 8-12 slides (approximately) and speaker notes.
    5. In-class overview: If time permits during class, students may be asked to present their findings to the class so come prepared.

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