Your assignment is to create a pamphlet for a patient explaining a genetic disease that affects at least one organ system.
1. Choose an organ system.
2. Search for and find a genetic disease that affects a feedback loop in this system.
a. Do some preliminary research to see if it is a suitable topic. What gene is affected? What protein is affected? How is the feedback loop affected?
3. Look up the model of your protein on https://swissmodel.expasy.org/repository. Type the specific name in the search bar, and make sure to choose the human version of the protein. Download a 3D image of your protein and save it so you can include it in your pamphlet later.
4. Begin working on making your pamphlet or poster. The audience for your pamphlet/poster is a patient. Your goals is to write a pamphlet/poster about the genetic disease that gives them the information they need to better understand the disease. Use Canva (https://www.canva.com/) to make a poster. For making a pamphlet, click here (https://venngage.com/blog/brochure-templates/) for , and click here (https://www.canva.com/create/brochures/) for free templates on Canva.
5. Present the pamphlet or poster to the class as if you are the doctor and we are the patients. The presentation should be around 3-5 minutes and you should be able to answer questions elaborating about your disease.
To answer 1 and 2:I was given the digestive system and am torn between or Hereditary Pancreatitis as my topic. After doing some research, I found out that Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. And that Hereditary Pancreatitis is caused by mutations in the PRSS1 gene and affects the enzyme called cationic trypsinogen which is also the protein affected. This information is obtained from the following sources (https://www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/
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