Genetic Disorders

Genes are the individual units of DNA, the building blocks of life. When mistakes or mutations occur, they can cause genetic disorders. Hereditary, or germline mutation, can be passed on from generation to generation. Acquired, or somatic mutation, may be caused by environmental stress.

Use reference and circulating library books for background information. Journal articles and some information on the web will help you round out your report.

TOPICS

Choose one of these topics for your research. If you have another genetic disease you would prefer to use, please discuss it with your instructor.


Achondroplasia	Fragile X	Phenylketonuria (PKU)
Color Blindness (color Vision Deficiency)	Galactosemia	Prader-Willi Syndrome
Cri du Chat	Hemophilia	Progeria
Cystic Fibrosis	Huntington's Disease	Sickle Cell Disease
Diabetes Mellitus	Klinefelter Syndrome	Tay Sachs
Down's Syndrome	Marfan Syndrome	Triple X Syndrome
Fanconi Anemia	Muscular Dystrophy (Duchenne's)	Turner's Syndrome

ASSIGNMENT

Your assignment is to design a PowerPoint presentation to describe and discuss a specific genetic disorder. The information will be presented orally in class and the PowerPoint slides will be added to the e-classroom. You are encouraged to this web site and Chapter 15 in the text.

The following criteria will be used to evaluate your presentation:
1.    The information must be current and correct.
2.    The information must be presented in a concise manner. Do the research first, and then design the slides. Use bullets appropriately and avoid wordiness.
3.    Do NOT copy information from your references.
4.    Organize the information in a logical manner.
5.    The information should be understandable. Do not use terms you cannot pronounce or do not understand. Please consult me for help.
6.    The presentation should have visual appeal but stay away from overly dramatic displays. (flying words, the “typed” effect, weird noises etc.)

You will be working in teams of two. Each person must participate in all aspects of the assignment. Do NOT split the work into research and presentation. Each person must take part in the research and the oral presentation.

The following points must be included in your slides and oral presentation:

1.    Briefly describe the disorder. Include characteristics, symptoms, age of onset and any relevant ethnic information. Do NOT list every symptom or characteristic. Include only the most relevant and important points.
2.    Discuss any unusual or unique features of the disorder.
3.    Discuss the genetic basis for the disorder.
a.    Is the disorder inherited?
b.    Is it an autosomal inheritance or recessive?
c.    Is the disorder a result of a mutation?
d.    Is the disorder a result of too many or too few chromosomes?
4.    Explain the inheritance by doing one of the following: construct a punnett square to illustrate path of inheritance, describe and illustrate with a diagram nondisjunction, show a karyotype of an affected individual, or design a pedigree chart to show several generations of inheritance.
5.    Describe the prognosis for individuals with this disorder. Are there any medical treatments available? What is the average life expectancy? Are there genetic tests available?
6.    What is the current research focus or gene therapy (if any) for this disorder?
7.    Finally, provide a references slide in proper MLA format.

REFERENCE BOOKS

Begin your research by looking at Reference Books for an overview of the disease. A few of these diseases have circulating books available. Check the library catalog for other books.

REF RB155.5 .G35 Gale Encyclopedia of Genetic Disorders: Diagnosis, treatment, prognosis. The bibliographies include organizations and websites.
REF RB155.5 .G455 Massimini, Kathy, ed. Genetic Disorders Sourcebook.: Several pages on each covered disease, including a bibliography and other resources to contact.
REF RB155 .G3593 King, Richard A., ed. Genetic Basis of Common Diseases.: Scientific overview of diseases, with graphs and extensive bibliography.
REF RB155.5 .W96 Wynbrandt, James. Encyclopedia of Genetic Disorders and Birth Defects.: Brief overview of diseases in alphabetical order. Good starting point.

FINDING JOURNAL ARTICLES

Research Journal Articles for the most recent information. Use peer reviewed or scholarly (articles) for authoritative information.

Health Reference Center: Academic: Includes articles from medical journals, reference books, and dictionary definitions.
PubMed: Index to articles in medical journals. More thorough than the other indices but usually only abstracts, not full text.
Health Source Nursing: Articles from medical journals
Proquest Research Library: Articles from less scientific journals. Easier to understand.

WEB SITES

Search these web sites for information. You may also want to try a web search on your own, but be sure to determine the authority of your source.

Medline Plus Genetic Disorders: Links to the latest research on genetic disorders. Includes overviews.
National Human Genome Research Institute: Specific genetic conditions or rare diseases, with descriptions, diagnosis and therapy.
Genetic Science Learning Center: Basic information on Genetic Disorders.
National Institutes of Health: A basic overview of the disease, ongoing research and links to further information.
Merck Manual of Diagnosis and Therapy: Disease diagnosis, prevention, and treatment.
National Center for Biotechnical Information: Database of genetics and genetic information, intended for professionals.
DMOZ Directory: A comprehensive list of genetic disorders with links to web sites. This is a good place to go if you are having trouble finding information. Most of the sources are excellent, but some are personal web pages.

GETTING HELP FOR YOUR ASSIGNMENT

Citing Sources Using the Library MLA Style Guide | LSC-Kingwood library guide. Examples of both paper and electronic citations.

Learning Center | Check our hours for in-house tutoring.

Contact Ms. Morgan | E-mail your professor

Lone Star College-Kingwood | Lone Star College-Kingwood Library | Write us | Page by Sue Goodwin, Librarian, 2003. Checked 6/08 sg.