Objectives:
Use internet resources to learn about the genetic basis of a disease or condition.
Summarize how the cellular level changes (changes affecting a specific protein or shape of the cell) lead to the symptoms of a specific disease.
Background:
Most diseases or disorders are either caused by pathogens or have a genetic basis. Some examples of diseases where the genetic cause is relatively well known include cystic fibrosis, sickle cell anemia, PKU, Huntington’s, and Marfan Syndrome. There are other diseases that clearly have a genetic component, but that we are still learning about like Alzheimer’s, Parkinson’s, and many cancers.
In this activity, you will choose a disease that has a genetic component and learn more about how changes at the genetic level can cause disease at the cell, tissue, organ, and body level. You are NOT limited to the diseases listed above and may choose any disease that interests you provided it has a genetic component.
Suggested Resources:
Your Genes, Your Health– make sure to click on “What causes it?” and watch the animation. :http://www.ygyh.org/
National Human Genome Research Institute: https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders
Genetic and Rare Diseases Information Center – make sure to choose a condition with a genetic basis: https://rarediseases.info.nih.gov/diseases?category=&page=1&letter=&search=
Genetics Home Reference – search by gene or by condition: https://medlineplus.gov/genetics/
Procedure:
Choose a disease with a genetic component.
Use the resources listed above or any other reliable resource to help you understand the genetic etiology (cause).
Explain how that cause (genetic defect) causes changes to the cell. For instance, does the genetic defect change a critical protein or remove a critical protein? Does it change the way the cell works or is shaped?
Connect the changes at the cellular level with the symptoms we observe in the body.
Cite your sources using AMA format.
Respond to at least two other students.
Contribute to an ongoing discussion by responding to comments on your responses or by responding to other student’s responses.
