Uploaded by Jason Kehoe

Cystic Fibrosis Quiz

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Cystic Fibrosis Assignment
1 of 7
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Cystic Fibrosis Assignment
What type of mutation causes cystic fibrosis?
Watch this video clip about the protein that causes cystic fibrosis, CFTR. This
video is describing one class of mutation in CFTR. Compare this video to the
information in your handout. What class of mutation is this video showing?
The video from question 2 described a process for how medicines to treat CF
were discovered. Think back our unit over evolution and natural selection. In a few
sentences, describe how the way these medicines were discovered is similar to
the process of evolution by natural selection.
4/24/2023, 11:59 AM
Cystic Fibrosis Assignment
2 of 7
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The life expectancy for people with CF has been increasing over time as new medicines
are developed. Examine this graph of the average life expectancy for people with CF.
Create a line of best fit, either roughly using a ruler, or more precisely by entering data
into Excel or a graphing calculator.
If the trend since 1950 continues, which of the following would be the most likely
average life expectancy for people with CF 20 years from now (2032)?
4/24/2023, 11:59 AM
Cystic Fibrosis Assignment
3 of 7
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Watch this commercial for a company that works on gene therapies, medicines
that may some day sure genetic diseases like CF. There are currently no
approved gene therapies for CF, but several are currently being researched.
Describe 3 ways a successful gene therapy might improve the lives of people with
CF compared to our current treatment methods.
If a successful gene therapy for CF was suddenly approved today (in 2022), how would
you expect the graph of the average life expectancy for people with CF to change from
that point? Explain your reasoning.
4/24/2023, 11:59 AM
Cystic Fibrosis Assignment
4 of 7
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Go to this website for the Cystic Fibrosis Foundation, and choose one of the
treatments listed other than Trikafta. Read the information, then summarize what
you find, describe in a paragraph or two how a person with CF takes this
treatment and what it does.
4/24/2023, 11:59 AM
Cystic Fibrosis Assignment
5 of 7
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The names scientists give things may sound like complicated nonsense sometimes, but
it's usually very systematic and informative if you know how to interpret them.
The most common mutation that cases cystic fibrosis is called F508del (you may also
see it written as ΔF508). This may sound like gibberish, but it really tells you a lot about
the mutation. The "F" refers to what amino acid in the protein is affected using the 1
letter code, in this case, phenylalanine.
The "508" tells where in the protein the affected amino acid is, the 508th amino acid.
The "del" tells you what kind of change has happened to this amino acid, in this case,
it's deleted.
Look at the key to see how some of the other types of changes are named. Another
mutation that causes CF is called W128X. Which of the following best describes this
mutation.
4/24/2023, 11:59 AM
Cystic Fibrosis Assignment
6 of 7
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Imagine you are a person with two copies of the F508del mutation in the CFTR
gene. Using any of the sources we've used in class, describe at least 3 things you
would need to do and/or medicines you would need to take in a typical day.
Now continue to imagine you have CF, with two copies of the F508del mutation,
except now, it's 2040 and you're planning on having children. You just found out
your spouse is a carrier for the same mutation. Would this change your decision
to have biological children? Why or why not?
There are no wrong answers, but I expect you to think seriously, be respectful,
and make sure to mention the chances that any children you had with your
spouse would be born with CF.
You must provide at least one piece of information that would affect your decision
outside of the sources I've provided. You must cite at least one reliable source in
APA format.
https://owl.purdue.edu/owl/research_and_citation/apa_style
/apa_style_introduction.html
4/24/2023, 11:59 AM
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