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Cystic Fibrosis S549N Mutation Project

I will provide documents needed as well as well as gene variant

end of semester project ‘due May 25’ that will pull together all of the different things that you learned about CFTR through this semester. It is a short project, where you will play the role of a genetic counselor whose job it is to give advice to a family that has a one year old child who has just been diagnosed with Cystic Fibrosis. You will be assigned a main variant (allele) to research in an online database, and you will research three possiblecombinations of that allele (seepdf documentin this module for details). There is a table included in this module that will show you your assigned variant.

Your paper should cover the following information:

1. A brief introduction to the disease including the molecular basis of the disease (the membrane protein damage that causes the disease), the size of the gene and the protein, the number of mutations that exist, what class mutation is the one that you are researching and what does it mean?

2. The basic genetics of the disease (including the genetics describing how each parent must carry one CFTR allele in order for a child to have the disease. How many people get the disease? How is it transmitted?

3. A review of the allele combinations that the child might have; you will be assigned a main allele to research in an online database, and will research in the database the three possible combinations of that allele. You will include an explanation of the potential health impact of that allele you have been assigned on the child’s health (for example, impact on the lungs, pancreas, and potential for Pseudomonas infections.

4. The last section should be about possible treatments for your particular variant. Are there new drugs (modulators) that can potentially help to deal with the particular version of CF that the child has? Or are only traditional treatment methods possible? What would those methods be? The best place to find information about the drugs is on the Vertex website (link is in the pdf document in this module).

5. The entire paper should be no longer than 4 double-spaced pages with standard 1-inch margins and a standard font no smaller than 11 points. Save the paper as a Word or PDF file to submit.

There are 3 documents that are included in this project module:

1. The first documenthas information that will lead you to high quality web sites that will tell you more about cystic fibrosis and help you answer the questions that need to be covered in your paper. It will also walk you through the steps to get to the database that has the information about the mutation that you will be assigned. Look at all of the directions in that document along with the information found here in order to have a complete picture of the project.

2. The second document has a table that will show you which variant you have been assigned. The list of variants is in the far left column; you will find your name in one of the rows to the right of one of the variants (these were randomly assigned). You may not switch your assignment with other students in the class. The specific variant you are researching should be included in the title of your project. there is a plagiarism checker that will automatically generate a report once the assignment is submitted. Refer to this website (Links to an external site.)

3. The 3rd document contains info about references and citing sources.

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