Genetic Disorder Research Projects

"Disorder" for lack of a better term. It's a little difficult to know exactly what to call the various genetic "abnormalities" (itself a loaded term), which range from obvious diseases like Cystic Fibrosis to the chromosomal disorders such as Down Syndrome to multi-factorial disorders such as diabetes & cancer that sometimes depend to a certain extent on enviromental interactions.

I assigned students to do a long-term investigation of one disorder. I have tried to limit them to the "simpler" disorders involving single genes or chromosomal abnormalities.

Timing is a challenge with long-term studies. If you assign the project too early, the students may not be able to make any sense of what they read. Assign it too late, and the chance to integrate their questions into the curriculum vanish. Since I had broken up my curriculum into non-linear chunks, I assigned the topic a month ago when we were discussing reproduction & Mendelian heredity. I hope to have the projects finished in the coming weeks as we study DNA, genetics & human reproduction.

I'm posting below the list of questions I provided students to help guide their research. They are supposed to come back from the holiday break with most of these questions answered.

Genetic Disease Study for Regents Biology Classes

Answer the following questions in your own words. Answer each question in a short paragraph if possible. You may want to write the question on one side of an index card, with the answer on the opposite side.

• What is the name of your genetic disorder?
• What are the causes of the genetic disorder?
• What is the effect of the genetic disorder on the body – at the cellular level and at the “organismic” level (how does it affect the whole body, what are the symptoms)?
• How does a “healthy” gene differ from a gene that causes the disorder?
• Have scientists identified the gene or genes that cause the problem? Where are the genes located? (Which chromosome? Include karyotype in your report to show location.)
• How common is the disorder in the general population?
• Does the disorder affect some population groups more than others?
• Is the disorder more common in some parts of the world than others?
  Is the disorder inherited? If so, is it dominant or recesive? Or is it more complicated than that?
• If your disease is a chromosomal abnormality, like Down Syndrome, how does that chromosomal abnormality occur? Use pictures to show how it happens.
• What kind of life does a person with the disorder lead?
• Are there any treatments for the disorder?
• Is there any other interesting information you found that you would like to add?

Remember, eventually your paper will need to discuss the relationship between DNA, genes, & proteins. So save any information you find about that, even if it doesn’t make sense right now.

I will create a simple rubric and post later.