Genetics 2416 Disease report

You will work on your own to create a Powerpoint presentation about a genetic disease of your choice.

Your report should not be all text, it should have pictures to illustrate each point on each slide. No length limit for the presentation; however, the presentation should include all of the following info.

Each portion is equally weighted for grading.

Things that must be included your presentation:

· Your full name and section number.

· Name of the genetic disorder.

· What causes this genetic disease? Is the cause known? If not, what do we know? Be as specific as possible, for example, which chromosome is affected, which gene(s)? What kind of mutation is it? (e.g. translocation, point mutation, chromosomal deletion? Is it sex-linked?).

· If a gene is mutated, what was the function of this gene product (protein).

· How is the disease inherited? Is it dominant? Recessive? Codominant?

· How prevalent is this disease?

· What are the disease symptoms? What is the disease phenotype? How exactly are the tissues affected? Include penetrance and expressivity

· Which cell types, tissues, and organs are affected? How are they affected?

· What is the mortality rate? What is the life expectancy? How does this affect the individual?

· What is interesting or different about this disease? This is your chance to include fascinating details regarding your disease topic.

· How do people cope with this condition? Are there treatments available to ease the symptoms?

· Citations.

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