Genetic Disease Reports

Seventh Grade Science
Project Due Date: Report: Friday January 14
Presentation: Friday January 14

As you now know, illness and disorders begin at the cellular level. Some illnesses are a product of your environment and/or exposure (flu), and others are genetically transmitted. Your challenge is to incorporate your knowledge about cells, cell division, genetics, and DNA to research and develop a presentation on a specific genetic disorder. You have already completed your basic study about the ideas of genetics and mutations. You may choose one disorder from the list to prepare your report and presentation about. EACH PRESENTATION MUST BE AT LEAST THREE MINUTES AND NOT MORE THAN SEVEN MINUTES IN LENGTH. A time for questioning will follow each presentation. You may choose any of the following media to use as visual aids during your presentation: PowerPoint, pictures shown on the Elmo, demonstrations, if you have other ideas, please let me know. You will be creating a written report to turn in but this cannot be read during your presentation.

You are expected to be an expert on the disorder you choose, you must deliver your talk WITHOUT reading it. You need to use your own words when presenting the project. Remember your audience! Try to steer clear of complicated terminology. You may jot down a few TOPICS (not facts) on an index card to be used only as a reminder of what you are going to say, NOT as a list of statements you are going to make. The index card will need to be passed in as soon as your talk is over.
Your presentation should include the following points (these are also part of your report):
• Introduction: What is the name of the disorder and what is the history behind the disorder? Are there any other names by which it is commonly known?
• Mode of inheritance: All genetic disorders are inherited. There are several different ways in which they can be inherited. Determine whether your disorder is an autosomal dominant trait, an autosomal recessive trait, an X-linked recessive trait, a chromosomal error or a multifactorial trait (polygenic disorder). 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.
• Clinical description of the disorder: 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? What is the disorder like externally, internally, biochemically, psychologically, etc. What problems are associated with the disorder? Is the disorder physically limiting? Is it life-threatening? Is it invariably fatal? Is it found more commonly in certain groups of people, such as a particular ethnic or religious group or particular sex?
• Treatment: 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? Is there any gene therapy for the disorder?

Detection: Can the disorder be detected before its symptoms appear? If so, how? Can it be detected prenatally? If so, how? Is there any way to detect a carrier of the disorder? If so, how?

Bibliography: At least one source should come from printed media (books, encyclopedias, periodicals, etc.) If possible, interview a field expert or a person who is affected by the disorder. You must site all references and sources that you use, including those where only pictures or videos were obtained.
You are encouraged to share any other information that you feel is important for others to know about the genetic disorder.

How will this activity be graded?
You will receive two grades on this project. One for the report and its contents (see attached rubric) and one for the presentation. The following factors will be used to determine the grade:
1. Accuracy – How accurate was your presentation? Did you give any misinformation? Did you appear to know the information well? Did you answer questions (that you were capable of answering) accurately? Did you make the effort to insure that all terms were pronounced correctly?
2. Following directions – Did you stick to the time limits? Did you make your note card and use it properly? Did you include all the required information?
3. Delivery – Did you speak loudly and clearly? Were you too fast or too slow? Did you appear confident and poised? Did you have proper eye contact with the class? Were you enthusiastic? Did you avoid silliness?
4. Use of visual aids – Did you use the board/overhead well? Did you use any other visual aids such as pictures, charts, objects, demonstrations, handouts, etc.
5 points Developing
10 Points Accomplished
15 Points Exemplary
20 Points Total
Oral Presentation Quality of Information Bare minimums have been accomplished. Little understanding about the genetic disorder delivered in oral presentation. Could only read slides with no further understanding. Minimums plus slight extras added. Answered questions from the intro and at least one question posed to them in the process section. All information present and complete. Some problems with flow and delivery. Shows more or less some understanding of knowledge – has minor flaws. Information is well thought out, flows well, all information is completed, Appears to have been practiced, knowledge shown.
Amount of additional Information for reading and websites found and presented One reference provided. At least 3 references presented in bibliography. At least 5 references presented in bibliography not in proper format. At least 5 references presented in bibliography in proper format.
Organization of presentation Random information is presented Disorganized at times. Organized Organized effectively with easy understanding.
Use of class time working on project Majority of class time was wasted. Half of class time was wasted. Little class time was wasted. No class time was wasted.
Overall Multimedia
Presentation Disorganized
Not Completed
Missing Key Component Questions
no graphics. Spelling errors present
presentation has some flow to it but is choppy. Easily understood by all. Includes graphics and data tables of information retrieved. Neatly done, organized, proper spelling, all parts included, above and beyond effort.
Information that is presented is aesthetically pleasing to the eye.

(or you may choose your own, but check with Mr. Frank first)
List of possible Genetic Disorders to Present:

1. Achondroplasia (Dwarfism)
2. Albinism
3. Adrenal hyperplasia
4. Autism/ Asperger syndrome
5. Cooley’s anemia
6. Cystic Fibrosis
7. Cri-du-chat Syndrome
8. Down Syndrome (Trisomy 21)
9. Duchenne Muscular Dystrophy
10. Edward’s Syndrome/Patau’s Syndrome
11. Familial Dysautonomia
12. Fragile X Síndrome
13. G6PD (Glucose 6 phosphate dehydrogenase) Deficiency
14. Gardner syndrome (intestinal polyposis)
15. Gaucher’s Disease
16. Hemophilia
17. Huntington’s Disease
18. Jacobsen Syndrome
19. Klinefelter Syndrome (XXY Syndrome)
20. Wilson’s Disease
21. Lou Gehrig’s Disease (ALS)
22. Marfan Syndrome
23. Moebius Syndrome
24. Neurofibromatosis
25. Osteogenesis Imperfecta
26. Phenylketonuria
27. Colorblindness
28. Polydactyl
29. Primordal Dwarfism
30. Progeria
31. Proteus Syndrome
32. Retinoblastoma
33. Rett’s Syndrome
34. Spina Bifida/Anencephaly
35. Spinocerebellar Ataxia
36. Tay-Sachs Disease
37. Tourette’s Syndrome
38. Triple-X Syndrome (Trisomy X)
39. Turner’s Syndrome
40. Xeroderma Pigmentosum

Helpful websites:
Yahoo – Genetic Disorders
Site explains several different disorders and contains links to all of the different types of genetic disorders.
Genetic & Rare Conditions Site
links to different types of disorders in alphabetical order.
What can our chromosomes tell us?
A site that talks about karyotyping of genotypes.
Genetic Disorder Library
To learn more about different genetic disorders, browse through the Genetic Disorder Library.
A Genetics Glossary
A basic genetic glossary.
Genetics Education Center
Seeks to help educate people about genetics.

Genetics Disorder Report Rubric

The report has a header, title, and is on 8.5 X 11 paper /5
The brochure accurately includes the following required information:
A brief history of the disorder /10
Cover with a graphic and name of disorder along with your name and date /10
General description of the disorder /10
How the disorder is inherited /10
Possible causes of the disorder /10
What gene or chromosome is affected by this disorder? (X, Y, #21) /10
Behavior of the person exhibiting the disorder /10
What are the chances of a baby being born with this disorder
and is there prenatal testing available? /10
How the disorder is treated /10
All information is typed, clearly organized and grammatically correct /10
A works cited page with at least 5 resources in the proper format /10

Total /95


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