Cystic Fibrosis Research Project

1Cystic Fibrosis Research ProjectThis project is going to be a presentation/poster project where you will be presenting a poster and information to the class about a particular variant (mutation) or pair of variants that cause Cystic Fibrosis. Your team will investigate one variant that you will be assigned both on its own with an unknown variant on the other chromosome or with a known common CF variant. 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.comwww.vertextreatments.comhttps://hopkinscf.org/www.cfsource.comhttps://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekor-tezacaftorivacaftor-and-ivacaftor-treatYou 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:https://hopkinscf.org/knowledge/cftr/#section5https://www.cff.org/What-is-CF/Genetics/Types-of-C… 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. 2Investigating your VariantNow 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.Now go to the website at https://cftr2.org/The entry page to this website will require you to read through and answer some questions in order to get to the database site where you can investigate your mutation. Once you get to the main page there are three short videos you can watch in order to understand the website and how it works. Once you have done that you can enter data in the entry points at the top left of the page ( https://cftr2.org/welcome ); there are two entry points; the first says Enter first variant and the second says Second variant (optional).The goal is to research three possible combinations:1. Your variant alone2. Your variant in both positions (located on both chromosomes)3. Your variant in combination with variant F508delEach of these will need to be run separately in the database and different information may be examined for each combination. You should report on each of these situations in your poster. Possible TreatmentsThere 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?https://www.vertextreatments.com/https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Medications/CFTR-Modulator-Therapies/POWERPOINT PRESENTATION:Your project should be presented using Power-Point and be in the range of 4-6 slides. 3Suggested Powerpoint slide contentTitle Slide: You should have a descriptive title to your poster that clearly shows the CFTR variant that you are investigating. Also include names of your group members. Requirements: one slide has all the required information

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