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Description

CFTR variant is ( A455E )

Cystic Fibrosis Research Project – 100pts
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

Home

www.cfsource.com
https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekortezacaftorivacaftor-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.
1
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:
1. Your variant alone
2. Your variant in both positions (located on both chromosomes)
3. 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-ModulatorTherapies/
POWERPOINT PRESENTATION:
Your project should be presented using Power-Point and be in the range of 4-6 slides.
2
Suggested Powerpoint slide content
Title 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.
Slide 1:
What is Cystic Fibrosis? A basic description of the disease and why it is deadly.
The basic genetics of Cystic Fibrosis: How is this disease genetically transmitted? What is
necessary for this disease to be transmitted to offspring? Describe what it means to be
autosomal recessive and how this impacts the way CF is transmitted from parents to offspring.
Slide 2
Describe the structure and function of the normal CFTR protein; how is the normal CFTR protein
produced in a cell (stepwise process)? In what types of cells is it found? What organs/organ
systems are typically affected by CF? Why? What problems are caused in the different organs
or organ systems?
Slide 3:
CF Variant Information: General background about CF mutations followed by the information
you have researched about your specific variant and the implications of the different allele
combinations that you researched. What class does your variant fall into? What is the problem
that puts this variant into this class? What are the most common clinical manifestations for this
variant?
What percentage of the population with CF carry this variant?
Is it possible to screen people for the presence of this variant?
The following web sites contain information about testing that can be done for CFTR variants.
https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis#am
https://ltd.aruplab.com/Tests/Pdf/182
https://www.labcorp.com/test-menu/23686/cystic-fibrosis-cf-profile-32-mutations-fetalanalysis
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?
3
https://www.vertextreatments.com/
https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Medications/CFTR-ModulatorTherapies/
https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekortezacaftorivacaftor-and-ivacaftor-treat
Cystic Fibrosis Genetic Variants
1. G542X
2. W1282X
3. R553X
4. N1303K
5. F508del
6. I507del
7. G551D
8. S549N
9. R117H
10. R347P
11. D1152H
12. A455E
13. 2789 + 5G – A
4

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