GCCCD Cystic Fibrosis Genetic Variants Discussion
Question Description
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: Cystic Fibrosis Genetic Variants F508del
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…
https://ltd.aruplab.com/Tests/Pdf/182
https://www.labcorp.com/test-menu/23686/cystic-fib…
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?F508del
https://www.vertextreatments.com/
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