Name ______________________________
Genetic Disorders Research Project and Presentation Instructions
You are being asked to research a specific genetic disorder and give an oral presentation along with creating an
engaging presentation:
Your presentation should include the following information:
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What is the name of the disorder?
Who discovered it or/and who has done research on the disease? What is the current status of research
for the disease?
What are the signs and symptoms of the disorder?
What body systems are affected by this disorder?
How does a person receive the disorder? Is it sex-linked? Is it a mutation? Is it due to heredity?
What types of treatment(s) are given for someone who has this disorder?
How is the disorder diagnosed?
YOUR PRESENTATION should have 2 distinct parts:
1) A visual aid that helps present your information. Choose from the following options for your
presentation format: brochure/pamphlet, poster/tri-fold poster, power point, newspaper article, skit, tshirt, or other teacher approved idea. This should not be read from but used to enhance your
presentation!
2) The teacher and the students will have a Q&A. You should be able to answer all reasonable
questions.
Other information:
1. You will choose a genetic disease out of a bag. If you partner with someone, you can choose one of the
two genetic diseases.
2. You most turn in a bibliography/reference page for the sources used in your presentation. There must
be a minimum of 3 sources. You may use just the html as the source.
3. How you behave in class while working on the presentation and also during the presentations will
impact your grade.
4. There will be a quiz on the genetic diseases following the presentations so TAKE NOTES!! The
quiz is a formative grade and you can use your notes on the quiz.
Edward’s Syndrome
Pataus’ syndrome
Philadelphia translocation
47,XYY Syndrome
Cri du chat
Sickle-Cell Anemia
PKU (Phenylketonuria)
Hemophilia
Triple X syndrome (also called 47,XXX or
trisomy X)
Turner’s Syndrome
Tay-Sachs Disease
Albinism
Duchenne muscular dystrophy
Down Syndrome
Trimethylaminuria
Progeria
Parkinson's Disease
Marfan syndrome
Huntington's disease
Cystic Fibrosis
Crohn's Disease
Autism
List of Internet resources that may be helpful to you in creating your presentation:
Genetic Disorder Library, University of Utah
http://learn.genetics.utah.edu/content/disorders/whataregd/
To learn more about different genetic disorders, browse through the Genetic Disorder Library.
Genetics Education Center
http://www.kumc.edu/gec/
Seeks to help educate people about genetics.
National Human Genome Research Institute
http://www.genome.gov/10001204
National Institutes of Health
Teens Health
http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html
The Basics on Genes and Genetics Disorders.
Understanding Gene Testing – These sites will help you with understanding genetic terms and disorders.
Gene Testing, National Cancer Institute
http://www.cancer.gov/cancertopics/understandingcancer/genetesting
Understanding Genetic Testing, Center for Genetics Education
http://www.genetics.edu.au/Information/Understanding-Genetic-Testing
List your Genetic Disorder to Research: ________________________________________________
List your references below to help you track the various websites, books, etc you use for your project. Make
sure that you do not list “google” or “yahoo” as a resource, I want the actual pages you use to get the
information. The information presented in your project must be in your own words. If not, your grade will
suffer for plagiarizing your project information.
Name(s): ________________________
Disorder: _______________
Genetics Disorder Grading Rubric
Presentation Requirements
Introduction
 Name the disorder
Definition of the disorder
 What happens to the body?
 What part of the body does it
generally affect?
Discovery and Research
 Who discovered it or/and who has
done research on the disease?
 What is the current status of
research for the disease?
Description of the symptoms
 List possible effects on the body
Cause of the disorder
 Is it a mutation? A genetic
tendency triggered by other factors?
How the disorder is inherited
 Is it sex-linked?
 Is there a particular chromosome it
is located on?
 Is it recessive or dominant?
How the disorder is treated
 Medications? Gene therapy?
Other?
How the disorder is diagnosed
 What tests are done?
Total Points Earned
Earned
Points
Possible
Points
2
5
5
2
5
5
5
2
31
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