BIOL 1406: Genetic Disorders - LSC-Kingwood

Diagram of DNA strands, from the National Institutes of Health



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. 


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.

Fragile X
Phenylketonuria (PKU)
Color Blindness (color Vision Deficiency)
Prader-Willi Syndrome
Cri du Chat
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


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 use 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.


Begin your research by looking at Reference Books for an overview of the disease. Search for specific diseases for circulating books available.  Check the library catalog for other books - limit your search to Collection: Reference Books and Location: LSC-Kingwood for print books on hand or search for eBook Collection for books available 24/7. Use your LSCS ID or library card barcode (14 digits) to login from off-campus.
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.
Database of medical reference books, including Merck Manual, Oxford Desk Reference: Clinical Genetics, and Current Diagnosis & Treatment Pediatrics. Search all resources or search/browse specific titles.


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.
International index to articles in medical journals.  More thorough than the other indices but often only abstracts, not full text. 
Health Source Nursing
Articles from medical journals
Academic Search Complete
Also includes articles from popular scientific journals.  Easier to understand.


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.
Merck Manual of Diagnosis and Therapy
Disease diagnosis, prevention, and treatment.
National Institutes of Health
Start here to locate health information from the 27 specialized institutes that make up the National Institutes of Health. Search for a specific disease or browse the Genetics/Birth Defects subject category.
National Center for Biotechnical Information
Database of genetics and genetic information, intended for professionals.
NOAH: New York Online Access to Health/Genetic Disorders
Link to information from organizations and other medical and health reference web sources.
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.


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 your professor for questions about the assignment.

 Page by Sue Goodwin, Librarian, 2003. Updated 6/12 bb
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