What variant class does your specific variant belong to?

What variant class does your specific variant belong to?

What variant class does your specific variant belong to? 150 150 Nyagu

Question Description
I’m working on a biology writing question and need support to help me learn.

I’m working on a biology project and need guidance to help me understand better.I only need slide 4 done please.

I need assistant on part of a project for biology.I need to complete slide 4. Completely and following guidelines.This is a group project. My code to complete the project is CODE:G551D

Cystic Fibrosis Research Project

This 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.com

www.vertextreatments.com

https://hopkinscf.org/

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:

https://hopkinscf.org/knowledge/cftr/#section5

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.

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:

Your variant alone
Your variant in both positions (located on both chromosomes)
Your variant in combination with variant F508del
Each 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 Treatments

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?

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.

Suggested Powerpoint slide content

Slide 4: Possible Treatments

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?

https://www.vertextreatments.com/

https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Medications/CFTR-Modulator-Therapies/

https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekor-tezacaftorivacaftor-and-ivacaftor-treat

Oral Presentation

On the last day of class, each group will give a short oral presentation about their specific findings about their variant. The presentation should be no more than 5 minutes per team and focus on summarizing the key findings about their variant or variant combinations and the possible treatments available for that combination.The team should NOT focus on background information about CF such as general signs, symptoms and general genetics. The presentation should be about the specific information that the group has been assigned.All members of the team must participate to obtain credit for the project.

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