Genetic Disorder Research/PowerPoint
Due Date: 1/16/11
Introduction
There are thousands of genetic disorders that affect humans, some of which can have
profound effects on a person's quality of life. Genetic disorders are passed from parents to
offspring in the genetic code, and in some cases, a person may be a carrier for a disease
and pass it to their children without knowing. Because genetic diseases are usually caused
by errors or mutations in the genetic code, it is extremely difficult to cure the condition, and
in most cases, doctors can only treat the symptoms. For this assignment, you will explore a
genetic disease and present a short presentation to the class about the disease you
researched.
Genetic Disorders
1.
2.
3.
4.
5.
6.
Albinism
Marfan Syndrome
Klinefelter Syndrome
Cri du Chat
Progeria
Gigantism- see this website:
http://www.fipapatients.org/aip/
7. Treacher Collins Syndrome
8. Achondroplasia
9. Proteus Syndrome
10. Down Syndrome
11. Fragile X syndrome
12. Cystic fibrosis
13. Incontinentia pigmenti type I
14. Patau syndrome
15. Harlequin ichthyosis
16. Tay Sachs Disease
17. Maple Syrup Urine Disease
18. Turner Syndrome
19. Pachyonychia Congenita
20. Galactosemia
21. Williams Syndrome
22. Smith-Lemli-Opitz Syndrome
23. Sickle Cell Disease
24. von Willebrand disease
25. Angelman Syndrome
26. Triple X Syndrome
27, Duchenne Muscular Dystrophy
28. Goucher disease
29. Rhett Syndrome
30. Prader-Willi Syndrome
31. Edward’s Syndrome
Research your disorder: The following are very good sources- use these as well as
ones you find on your own.
http://www.ygyh.org/
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd
http://ghr.nlm.nih.gov/BrowseConditions
http://learn.genetics.utah.edu/content/disorders/whataregd/
http://www.marchofdimes.com (use the search bar)
http://kidshealth.org/teen/diseases_conditions/
http://science.jrank.org/pages/3596/Inherited-Disorders.html
Your presentation to the class will need to provide an overview of the disease,
addressing what causes it, what the effects and symptoms are, and how likely it is to
pass the disease on to the next generation. Use the following questionsas a checklist to
guide you in your research:
Medical- Describe the disease
___1. How does a person inherit it? Is it dominant or recessive?
___2. What are the possible genotypes of the parents? If the disease is a chromosomal
00000abnormality, describe the abnormality.
___3. How prevalent is the disease in the population (include statistics)?
___4. What are the chances of a person with this disease passing the disease to their
ooooooffspring (include possible scenarios)?
___5. How is the disease diagnosed?
___6. What are the physical symptoms of the disease?
___7. What is the life expectancy of someone with the disease?
___8. How can the disease be treated?
Personal
___1. What is everyday life like? What is the quality of life?
___2. What limitations does the person have?
___3. How possible is it that a cure will be found?
Prepare Your Presentation
Compile your information and present it as a POWERPOINT presentation. It is
recommended that you organize your presentation into sections (or slides). The purpose
of the presentation is to inform the class about the disease.
**Be sure to include a bibliography slide with websites listed.
Presentation- Do not simply read your presentation
At this point, you will present your findings to the class. At the end of the
presentation, you will allow the audience to ask questions.
*Refer often to the Rubric for this assignment. It includes a checklist of
information to be covered. THIS ASSIGNMENT WILL BE COUNTED AS A TEST
GRADE
**TO BE TURNED IN by Monday, Jan 16 on a CD or flash/stick drive or e-mailed
to me to copy to my computer.
Rubric (for teachers use)
Unsatisfactory
Satisfactory
Excellent
Organization
audience has difficulty
following, topics jump
around
logical sequence,
audience can follow
logical, interesting
sequence which audience
can follow.
Technical
Bullets and transitions
are used ineffectively,
or are distracting
Bullets and transitions
used, but there are
some problems with
flow
Bullets and transitions
used effectively,
presentation flows
smoothly
Information
Presentation has some
major gaps in
knowledge, or is
presented in such a
way that the audience
has trouble
understanding
Presentation provides
information on the
topic, some elements
are missing (see
questions)
Presentation provides a
wealth of information on
the topic, all questions are
answered in a way the
audience can understand
Information 2
A majority of the
information seems
copied from sources,
student does not
attempt to make it
understandable
Most information
understandable but
some seems cut and
paste from sources,
some information too
technical for a
layperson to
understand completely
Student presents
information in their own
words, with consideration
to the audience
Appropriate Pictures are
used
Speaking
Student seemed
unknowledgeable
Student seemed
unsure of some issues,
or questions were
answered inaccurately
Student appeared to
understand the issues of
the topic. Questions were
answered accurately
2 sources used- no
3 sources used w/
documentation
documentation
Miscellaneous
Medical
___
___
___
___
___
___
___
___
___
___
Personal
4 or more sources used w/
documantation
Project on time
Describe the disease
What chromosomes are involved? Describe the abnormality?
How does a person inherit it? Is it dominant or recessive?___
What are the possible genotypes of the parents?
How prevalent is the disease in the population (include statistics)?
What are the chances of a person with this disease passing the
disease to their
offspring (include possible scenarios)?
How is the disease diagnosed?
What are the physical symptoms of the disease?
What is the life expectancy of someone with the disease?
How can the disease be treated?
___ What is everyday life like? What is the quality of life?
___ What limitations does the person have?
___ How possible is it that a cure will be found?