Cystic Fibrosis Genetic Disorder Discussion Questions

Cystic Fibrosis Genetic Disorder Discussion Questions

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Cystic Fibrosis Genetic Disorder Discussion Questions

The Genetic Disorder: Cystic Fibrosis

1. Name of disorder (including other names it may go by); background on this disorder including

symptoms, how it is diagnosed, and treatments; is this disorder more prevalent in certain

populations?

2. Gene information: OMIM number (https://omim.org) (OMIM # 602421); what gene(s) are

involved or believed to be involved;

3. How does the mutation cause the phenotypes or symptoms observed?

4. Any environmental factors that lead to or enhance the phenotype?

5. Is this disorder inherited? If so, how?

6. Any experimental treatments being researched to correct the genetic mutation?

7. Any other interesting facts

Red Blood Cells Count Questions

I'm working on a biology multi-part question and need support to help me understand better.

Part 1:

Suppose that vampires actually exist and that the condition is caused by a prion disease that

eliminates the ability to manufacture red blood cells (RBC) by changing their body’s DNA

throughout the bone marrow. They need to drink blood in order to replenish their RBC count.

RBC are normally produced in the bone marrow and destroyed in the spleen once they have

existed for about 4 months. Sketch a diagram of the two regulatory pathways, including

feedback loops, described here (i.e. sketch one diagram for normal humans and sketch another

Cystic Fibrosis Genetic Disorder Discussion Questions

for the modified vampire pathway): The number of red blood cells (RBC count) in the body is

the variable being regulated. Over time, the number of RBC decreases due to the action of the

spleen. However, if exposed to sunlight, which triggers activation of Vitamin D, which in

vampires dramatically raises the Ca++ concentration in plasma, triggering apoptosis (cell death)

of RBC so sunlight is a stimulus that will decrease RBC. The kidneys have nerve endings that

detect blood O2 levels as a measure of RBC count and release the

hormone erythropoietin (EPO) to stimulate release of RBC from the bone marrow. However, in

vampires the bone marrow cannot make more cells. They have evolved a mechanism where the

release of EPO triggers a diversion of blood flow away from the spleen to slow the rate of RBC

destruction. Also, detection of low RBC count triggers the vampire brain to release the

hormone vampyrine which causes the sensation of hunger. If the vampire feeds, levels of RBC

go up since they are not digested but transported into the blood vessels. (6 points)

Part 2: Cystic Fibrosis Genetic Disorder Discussion Questions

Read the paper “Prediabetes Phenotype Influences Improvements in Glucose Homeostasis with

Resistance Training” by JD Eikenberg et. al (2016) from PLOS One posted as a .pdf file in the

“Introduction to Physiology” Canvas folder (or found

here https://doi.org/10.1371/journal.pone.0148009 ) (Links to an external site.)and answer the

questions about it. There are 8 questions worth 1-3 points each.

Write your answers in complete sentences. I am expecting your answers to be from one to five

sentences, depending on the question. (I am not looking for a lot of writing, just to see if you

read and understood the paper and to see what your opinion is about some of the issues raised

in it.) I will award points based on the correctness and completeness of answers, or if it is your

opinion that it makes sense and that you explained your position clearly.

Cystic Fibrosis Genetic Disorder Discussion Questions

RUBRIC
Excellent Quality 95-100%	Introduction 45-41 points The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.		Literature Support 91-84  points The background and significance of the problem and a clear statement of the research purpose is provided. The search history is mentioned.			Methodology 58-53 points Content is well-organized with headings for each slide and bulleted lists to group related material as needed. Use of font, color, graphics, effects, etc. to enhance readability and presentation content is excellent. Length requirements of 10 slides/pages or less is met.
Average Score 50-85%	40-38 points More depth/detail for the background and significance is needed, or the research detail is not clear. No search history information is provided.		83-76  points Review of relevant theoretical literature is evident, but there is little integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are included. Summary of information presented is included. Conclusion may not contain a biblical integration.			52-49  points Content is somewhat organized, but no structure is apparent. The use of font, color, graphics, effects, etc. is occasionally detracting to the presentation content. Length requirements may not be met.
Poor Quality 0-45%	37-1 points The background and/or significance are missing. No search history information is provided.		75-1 points Review of relevant theoretical literature is evident, but there is no integration of studies into concepts related to problem. Review is partially focused and organized. Supporting and opposing research are not included in the summary of information presented. Conclusion does not contain a biblical integration.			48-1 points There is no clear or logical organizational structure. No logical sequence is apparent. The use of font, color, graphics, effects etc. is often detracting to the presentation content. Length requirements may not be met
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