Download Due Date: Genetic Mutations Project As you have learned in class

Due Date: _______________
Genetic Mutations Project
As you have learned in class, genetic mutations sometimes occur during DNA replication or during mitosis/meiosis.
While some mutations cause no change in how a person looks or functions, and some can be helpful, others can
cause dramatic changes and present a variety of challenges that persons must overcome. This prompts the
question:
How can society respond both medically and compassionately to the physical, emotional, and
intellectual effects of genetic mutations?
In our DNA and Genetics Unit of study, you are challenged to incorporate your knowledge about cells, cell division,
and DNA/Genetics to research and present your findings on a specific genetic disorder. Your end product should
be designed to inform the public about your topic of study and should answer the following:
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What is the name of the condition/disorder and what is the history behind it? Who discovered it
or/and who have done research on this condition?
How does this condition occur? Is it sex-linked? Is it hereditary? (If so, is it dominant or
recessive?) What are the chances of getting this mutation? Is it because of a specific gene
mutation? Or does it chromosomal?
What are the sings/symptoms? How is it diagnosed?
What types of treatment there are for those with this mutation? How can we help those affected?
Include a suggested list of resources that may be helpful to those wanting more information.
You are also encouraged to share any other information that you feel is relevant and important for
others to know about the genetic mutation you chose to research.
Possible Topics of Study
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Achondroplasia (Dwarfism)
Adenosine deaminase (ADA) deficiency
Albinism
Apha-1 Antitrypsin Deficiency
Cri-du-chat syndrome
Cystic Fibrosis
Down Syndrome (Trisomy 21)
Duchenne Muscular Dystrophy
Galactosemia
Gardner syndrome (intestinal polyposis)
Gaucher’s Disease
Hemophilia
Huntington’s Disease
Jacobsen Syndrome
Klippel-Feil Syndrome
Leukodystrophy
Lou Gehrig’s Disease (ALS)
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Methylmalonic acidemia
Maple Syrup Urine Disease
Marfan Syndrome
Moebius Syndrome
Patau Syndrome (Trisomy 13)
Phenylketonuria (PKU)
Polycystic Kidney Disease
Progeria
Proteus Syndrome
Retinoblastoma
Rett’s Syndrome
Severe Combined Immunodeficiency (SCID)
Sickle Cell Anemia
Spinocerebellar Ataxia
Tay-Sachs Disease
Tourette Syndrome
Williams Syndrome
Due Date: _______________
Expectations for Final Product:
4
Area of Focus
Your score
Visual
Symptoms and genes/chromosomes affected are fully drawn out or printed/shown and are
x2
representation explained in detail
of disorder
Information about the disorder includes:
Genetic aspect -Exact name of gene affected
-Inheritance (who gets it?)
of disease
x3
-Research that is being done on the disorder
Medical – Treatment, Screening/Genetic Testing, At least 3 symptoms/complications of
Consequences disorder and how patients can cope
Emotional – How can we help those affected?
of disease
x3
Intellectual – Are there disadvantages associated? If so, how can we help?
History/
Relevant/
Interesting
facts
Organization
Comments:
History of the disorder: How was it diagnosed
At least two relevant or interesting facts are stated and fully explained (does anyone famous
have this? Is it more common in certain areas over others?)
Information is organized effectively with easy understanding.
Outline is completed and handed in on time.
Works cited page/section is complete.
Total SCORE
___/40 points
Due Date: _______________