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Genetic Disorders Project
Genetic disorders can be a challenge to individuals and families living with the condition. However,
a variety of disorders have been discovered, allowing for treatment to start right at birth. Your goal
of this project is to give a detailed presentation of the disorder to your peers. You will create an
informative piece of literature.
What you should know (minimum):
1. Description of mutation
2. How does the mutation occur or what causes the mutation. (Sex linked, mutation on DNA,
dominant, recessive)
3. How often does it show up in society?
4. What are the symptoms/signs/what does a person look like, what part(s) of the body does it
impact?
5. What is the expected life span of a person with the mutation?
6. How is it diagnosed?
7. Can we do genetic testing for it?
8. Discovery: What scientist(s) help discover/diagnose/ develop treatments for the disorder? What
year was it discovered? What country?
9. Are there support groups?
10. Is it curable or preventable?
11. Is there medicine associated with it to help cope with the mutation?
12. What are the hardships associated with the genetic mutation?
13. New research and organizations: Find new research or techniques in treating this disorder.
Share an article/news story that you read (sciencedaily.com is a great site!) and describe
organizations that help with research or treatment/assist people with this disorder.
Also
Include: Appropriate pictures (at least two!)
4-5 Credible Sources. Wikipedia is not a credible source. Credible sources can be websites that
end in: .edu, .org, or .gov
Cases to choose from:
1p36 deletion syndrome
Achondroplasia
Albinism
ALS
Angelman Syndrome
Blooms Syndrome
Canavan Disease
Cri du chat
Color Blindness
Cystic Fibrosis
Down Syndrome
Fragile X Syndrome
Hemophilia
Huntington’s disease
Klinefelter’s Syndrome
Maple Syrup Urine Disease
DUE DATE ________________________________________
Marfan’s Syndrome
Muscular Dystrophy
Phenylketonuria
Prader Willi Syndrome
Sickle Cell Disease
Tay-Sachs Disease
Turner’s Syndrome
XYY Syndrome