There are a variety of web sites that have specific information about cystic fibrosis as a disease and descriptions of the etiology of the disease. The most common websites with reliable information include the following:
www.vrtx.com
www.vertextreatments.com
Home
www.cfsource.com
https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekor-tezacaftorivacaftor-and-ivacaftor-treat
You read through each of these web sites and become familiar with the information contained in each one. Information in them will form the basis of the background information for your project.
There are six classes of variants to which the most common CF variants can be assigned, classes I through VI (Note: there are a few websites that will show 5 different CF mutation classes; these have older information and are missing the 6th variant description). Information on the manner in which variants in each of these classes causes damage to the CFTR protein can be found at the following websites:
CFTR
https://www.cff.org/What-is-CF/Genetics/Types-of-CFTR-Mutations/
This website shows only 5 classes of mutations, but the graphic presented is very helpful for understanding the mutation types.The first 5 classes of mutations are the same in each case; the 6th class is a newer variant that is not described everywhere.
Investigating your Variant
Now that you have presented some basic information about Cystic Fibrosis, the remainder of the project will present information that is specific to the variant that your team is investigating.
What variant class does your specific variant belong to?
Use the previous information you have researched to determine which class your variant belongs to. You should describe the specific problem with your variant on your poster and in your presentation.
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