Human Genetic Disorders


Genetic counselors are individuals who are trained in the field of genetics. The genetics counseling community ascribes to a belief in non-directive counseling. That is, they feel that it is their duty to provide all of the information that is available and desired by a family so that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc. beliefs.

In your role as a genetic counselor, your assignment for the next three weeks will be to investigate an inherited disease and prepare a "story book" about the disease. Your investigation should include medical information important for people with this disease so that they can live a healthy and prolonged life. This might include:

Each image must have a caption. The presentation will be given using either ClarisWorks® or Microsoft PowerPoint® presentation software. It should be written such that someone else could view the presentation and understand the key points without an accompanying verbal explanation.


Students should be able to:

  1. discuss examples of inherited disorders, their symptoms, and their causes.


  2. demonstrate how modern knowledge and techniques have led to understanding the cause of genetic disorders. (If known, show the location of the defective allele).


  3. relate genes and protein synthesis to the expression of phenotypes.


  4. describe techniques that permit diagnosis of a genetic disorder.


  5. demonstrate how increased knowledge and advances in medicine have improved the quality of life for people with the disorder.


  6. use a Punnett square and a pedigree as a tool to provide parents with information about the possibility of having a child with a genetic disorder.


  7. discuss the impact of the disease on the victim, their family, and society.


  8. access, use and manage information from the Internet effectively (using links provided as well as locating other relevant links using search engines).


  9. communicate and collaborate with other people in other locations. (using e-mail, newsgroup, e-mail, snail mail, and/or telephone).


  10. follow the Acceptable Use Guidelines which both you and your parents signed.

Biology: Living Systems, Chapter 8, 9, 11(brown book) may be extremely helpful in preparing your presentation, in addition to the information obtained from using the Internet.

Presentation Requirements:

Presentation Design Tips:

  1. Limit text to about six lines, six words per line. Information on slides is meant to highlight the important points.


  2. Text should not be smaller than 18 points. Use 44 points for titles, 32 points for text, and 28 points for subtext.


  3. Limit yourself to 2-3 easy to read fonts.


  4. Use a dark, gradated background with brightly colored text for an on-screen presentation. Use a clear, light background with dark text for an overhead.


  5. Keep templates simple and free from too many lines, textures, and so on. Enhance with clip art or graphics.


  6. Avoid having more than three plain text slides in a row. Try to use tables or graphs wherever appropriate.

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Created by: Shelly Peretz,
May 13, 1996