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BIOL 1406: Genetic Disorders

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.


Team Project: Choose a Genetic Disorder and Develop a PowerPoint Presentation

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 APA format.

Suggested Topics

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

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