Genetic Disorder Presentation

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Describe the principles of genetics and genomics.

Scenario

As you work with your preceptor, you learn that she is planning a training session for all new nurses to familiarize them with principles of genetics and genomics using data from a three-generation family pedigree. She asks your help in building a pedigree and genogram to reflect inherited genetic disease processes. You agree to do some reading and describe a genetic disorder and provide a genogram that would indicate how this disorder is transferred over generations. Your preceptor asks you to pick one from this list:

  • Duchenne Muscular Dystrophy
  • Hemochromatosis
  • Neurofibromatosis
  • Turner Syndrome
  • Von Willebrand Disease
Instructions

After you pick one, create a brief 3 – 5 slide presentation using Microsoft PowerPoint® and a free recording software compatible with PC and MAC computers, Screencast -O-Matic©. Follow these instructions to download and use this software to create your presentation.

  1. Access the Screencast-O-Matic© homepage by clicking on the box in the upper right-hand corner titled, “Sign Up” to create your free account.
  2. Create a free account (be sure to write down the email and password created for account access.)
  3. Once logged in, click on the “Tutorials” link at the top of the homepage and view 1. Recorder Intros
  4. Create your presentation by clicking on the “Start Recorder” box.
  5. Once finished recording, click on the “Done” button.
  6. Next, choose, “Upload to Screencast-O-Matic.”
  7. Select “Publish.”
  8. Choose “Copy Link”
  9. Place the “Link” in a Microsoft Word document and then upload this document to the assignment drop box.
  10. For additional assistance on creating a Screencast-O-Matic, please visit the Library and Learning Services Answers page: How do I make a video of a PowerPoint presentation using Screencast-O-Matic?

Address the following principles of genetics and genomics:

  • Create a three-generation family pedigree and genogram with standard symbols with the interpretation of results explained using standard terminology
  • Definition of your chosen genetic disorder and how it presents in clients
  • Possible educational needs for the client and family
  • Possible genetic testing for the disease you selected