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:
- a pedigree for the family described
- family members who appear to possibly have the disease
- a prediction of the chances of their offspring having this
- the ethical and social issues involved in this particular case
for the child and the parents
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
Students should be able to:
- discuss examples of inherited disorders, their symptoms, and
- demonstrate how modern knowledge and techniques have led to
understanding the cause of genetic disorders. (If known, show the
location of the defective allele).
- relate genes and protein synthesis to the expression of
- describe techniques that permit diagnosis of a genetic
- demonstrate how increased knowledge and advances in medicine
have improved the quality of life for people with the disorder.
- 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.
- discuss the impact of the disease on the victim, their family,
- access, use and manage information from the Internet
effectively (using links provided as well as locating other
relevant links using search engines).
- communicate and collaborate with other people in other
locations. (using e-mail, newsgroup, e-mail, snail mail, and/or
- 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.
- The presentation must be at least 10 slides long, not counting
resources, title and (student) author information.
- Presentation must include a discussion of the following
aspects of your inherited disorder:
- causes (etiology)
- diagnosis and treatment
- Punnett square and a pedigree to provide parents with
information about the possibility of having a child with a
- impact of the disease on the victim, their family, and
- List of resources which you found via the Internet (you should
be able display a copy of your bookmarks and copy these into your
- Submit 2 multiple choice questions to include on our final
Presentation Design Tips:
- Limit text to about six lines, six words per line. Information
on slides is meant to highlight the important points.
- Text should not be smaller than 18 points. Use 44 points for
titles, 32 points for text, and 28 points for subtext.
- Limit yourself to 2-3 easy to read fonts.
- 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.
- Keep templates simple and free from too many lines, textures,
and so on. Enhance with clip art or graphics.
- Avoid having more than three plain text slides in a row. Try
to use tables or graphs wherever appropriate.
Created by: Shelly Peretz,
May 13, 1996