Genetic Disorder Research Paper
Research Paper and Visual Presentation
Name_______________________________________ Topic:________________________ Due Date:________________
Each student will research and present information on a genetic disorder to the class via a multimedia visual
project. Requirements/rubric for this presentation is listed below. This will be counted as a three hundred point lab
grade.
Listed below are numerous genetic disorders but students may pick one not on the list as long as it is approved by the
teacher. A great website to research other possibilities is http://ghr.nlm.nih.gov/. Only one student per class may pick a
disease.
Possible Topics
Adrenoleukodystrophy (ALD)
Familial Dysautonomia (FD)
Prader-Willi Syndrome
Albinism
Familial Mediterranean fever
Progeria
Angelman Syndrome
Fragile X Disease
Proteus Syndrome
Asperger’s Syndrome
Gaucher’s Disease
Retineblastoma
Autism (not Asperger’s syndrome)
Hemophilia
Rett’s Syndrome
Bardet-Biedl Syndrome
Huntington’s Disease
Russell Silver Syndrome
Canavan
Jacobsen Syndrome
Sickle Cell Anemia
Celiac Disease
Klinefelters Syndrome
Stickler Syndrome
Charcot-Marie-Tooth Disease
Lou Gehrig’s Disease (ALS)
Tay-Sachs Disease
Cri Du Chat
Marfan Syndrome
Thalassemia
Crohn’s Disease
Mobius Syndrome
Tourette Syndrome
Cystic Fibrosis
Muscular Dystrophy
Treacher Collins Syndrome
Diabetes
Nail-Patella Syndrome
Turner Syndrome
Down Syndrome
Osteogenesis Imperfecta
Williams Syndrome
Dubowitz Syndrome
Phenylketonuria (PKU)
Dwarfism
Polycystic Kidney Disease
Research Paper: Your paper is to be at least 3 pages, double spaced, 12 font New Times Roman, 1 inch margins, NO
YOU’s, MY’s or I’s. If any of these specifications are not met, points will be deducted. You must have a cover page that
includes a photo (if applicable) of a person with this genetic disorder. No additional photos are needed in the paper
except the possibilities of drawings to show the pathway of the genetic disorder (not included in the 3 page count).
Please do not put your paper in a cover or a notebook. Make sure to summarize all of your information instead of just
directly copying for websites. All information in the paper is to be put into complete sentences. There should be no
bulleted lists in the research paper.
Name_______________________________________________ Project Name___________________ Grade:_________
Genetic Disorder Research Paper Rubric (190 points)
1. Introductory Paragraph (15 Points)
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What is a genetic disorder?
How often do genetic disorders occur?
What was thought about genetic disorders in the past versus the present?
What is the name of your genetic disorder?
2. Introductory Statement (15 points)
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Why was the disorder given this name?
Are there other names that it is commonly known as?
How was it discovered?
How many are affected by this disorder?
3. Mode of Inheritance Part A (25 points)
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How does a person get this disorder? (All genetic disorders are inherited, explain how)
Determine whether your disorder is a dominant trait, a recessive trait, an X-linked recessive trait, a
chromosomal error or a multifactorial trait.
Is it autosomal dominant, autosomal recessive, sex-linked or a mutation of the genes for an unknown reason?
Which chromosome does it occur on? (Chromosomal errors may take several types: a particular missing
chromosome (e.g. a missing X chromosome), an extra chromosome (e.g. an extra chromosome 21), or a
damaged chromosome (e.g. part of a chromosome deleted). A multifactorial disorder is one which is caused by
several genes or by a combination of genetic and environmental factors.
4. Clinical description of the disorder (20 points)
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What are the features of the disorder?
How does it affect the victim?
What is it like to have the disorder?
How would you describe the disorder to someone else?
5. What problems are associated with the disorder (20 points)
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What is the disorder like externally, internally, biochemically, psychologically, etc.?
Is the disorder physically limiting?
Is it life-threatening? It is invariably fatal?
Is it found more commonly in certain groups of people, such as a particular ethnic or religious group?
6. Treatment (20 points)
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Can anything be done for the disorder?
Can the basic defect be treated?
Can the symptoms or results of the disorder be treated?
Is there a cure for the disorder?
7. Detection (20 points)
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Can the disorder be detected before its symptoms appear?
Can it be detected prenatally? (Before the baby is born)
Is there any way to detect a carrier of the disorder?
8. Conclusion (20 points)
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Restate the definition of genetic disorder in a different way.
Restate an important piece of information about this specific disorder.
Emphasize some important details in the paragraphs above.
Tie a conclusion statement to our overall thesis statement from the first paragraph (you’re the expert now,
what’s your opinion?)
9. Grammar and Spelling (10 points)
10. Bibliography (15 points)
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(at least 6 sources in correct format – MLA format) – one must be a book. Wikipedia is not a valid source.
11. Parent signature that they have read your paper must appear under your name on the cover page (10 points)
PowerPoint or Other Visual Presentation Rubric: 110 Points
Part I: Title Page (5 points)
___Title of the disorder
___ Name, date and period
___ A relevant graphic
Part II: Introduction (15 points)
___ What is the disorder?
___ Briefly describe what the disorder is (what does it do to its victim)
___ Is there one ethnic group that your disorder affects more than others?
Part III: Symptoms (20 points)
___ How does the disease affects its victims (more detail than in the introduction) – graphics and visual are useful in this
section
Part IV: Treatment (20 points)
___ How are the symptoms treated?
___ If possible, describe the efforts that are being made to find a cure
___ Any other relevant information
Part V: Genetics (20 points)
___Describe how this disorder occurs (graphics/video useful)
Part VI: Conclusion (15 points)
___ What will you do with this information, and what affect did this report have on your understanding of and attitude
towards people with genetic diseases.
Part VII: Bibliography (15 points)
___ List all of your references – at least 6. No Wikipedia. At least one must be a book reference. Include any visual
graphic citations.
Reminder: No YOU’s/I’s/My’s in paper or powerpoint. There will be a 15 point deduction for each!