UCLA Cystic Fibrosis Transmem

This project is going to be a report where you will be acting as a genetic counselor to the parents of a one-year-old child who has been diagnosed with Cystic Fibrosis. You will be presenting information about the pair of variants (mutations) in which the child has inherited, that has caused Cystic Fibrosis, as well as potential treatment plans.

After convening with a geneticist, you found out that the child carries two different variants. Your assigned variants can be found at the bottom of the page. Spend time researching Cystic Fibrosis and find out more information about your variants. Use any resource at your disposal, (Examples; Hopkins CF (https://hopkinscf.org/), Cystic Fibrosis Foundation (https://www.cff.org/What-is-CF/About-Cystic-Fibros….), CFTR2 (https://cftr2.org/)

Your report should include the following:

– An introduction providing general information about CF as a disease and the basic genetics of the disease

– Background information for each of the two variants; what type of mutation occurred, what class of mutation, the % of population with the mutation, impact on function, screening methods

– Using the CFTR2 (https://cftr2.org/) website, how does the combination of the two variants impact the child; a general overview and summary; data on lung function, pancreatic insufficiency, pseudomonas infection

– Provide possible treatments for someone with these variants. *Are there any of the newer treatment (modulators) possible or will treatment for this be based on classic CF treatments?

– Include a works cited page and properly cite your resources in your report

– Make sure your report is well organized, clearly written, and professionally presented as well as having clear grammar, spelling and punctuation

*There are many old style standard therapies to treat CF, and there are the newer CFTR Modulator treatments. Which of these treatments might be useful for patients with your gene variant? As you do your database search, there will usually be some information that comes up about whether any of the newer modulator treatments is possible. There are other websites where you can find specific information if you google the specific name of one of the new modulator treatments. Otherwise you should look into some of the older, standard treatments for the disease.

Variants 1 and 2 are correct.

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