Cystic Fibrosis Inherited Illness Discussion Essay
Order ID:89JHGSJE83839 Style:APA/MLA/Harvard/Chicago Pages:5-10 Instructions:
Cystic Fibrosis Inherited Illness Discussion Essay
This project is going to be a report where you will be acting as a genetic counselor to the parents of a one-year-old child who has been diagnosed with Cystic Fibrosis. You will be presenting information about the pair of variants (mutations) in which the child has inherited, that has caused Cystic Fibrosis, as well as potential treatment plans.
After convening with a geneticist, you found out that the child carries two different variants. Your assigned variants can be found at the bottom of the page. Spend time researching Cystic Fibrosis and find out more information about your variants. Use any resource at your disposal, (Examples; Hopkins CF (Links to an external site.), Cystic Fibrosis Foundation (Links to an external site.), CFTR2 (Links to an external site.) (Links to an external site.))
Your report should include the following:
– An introduction providing general information about CF as a disease and the basic genetics of the disease
– Background information for each of the two variants; what type of mutation occurred, what class of mutation, the % of population with the mutation, impact on function, screening methods
– Using the CFTR2 (Links to an external site.) website, how does the combination of the two variants impact the child; a general overview and summary; data on lung function, pancreatic insufficiency, pseudomonas infection
– Provide possible treatments for someone with these variants. *Are there any of the newer treatment (modulators) possible or will treatment for this be based on classic CF treatments?
– Include a works cited page and properly cite your resources in your report
– Make sure your report is well organized, clearly written, and professionally presented as well as having clear grammar, spelling and punctuation
*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? As you do your database search, there will usually be some information that comes up about whether any of the newer modulator treatments is possible. There are other websites where you can find specific information if you google the specific name of one of the new modulator treatments. Otherwise you should look into some of the older, standard treatments for the disease.
These are the two different gene variants you will be using
I507del G551D Annual Population Growth Rate Analysis
Using the World Bank “Annual Population Growth Rate” excel file
- Determine the 1969 and 2018 percent annual growth rate for at least 10 countries. Make sure that the countries are from both developing and industrialized nations.
Annual Population Growth Rate = (BR – DR)/1000 * 100
**** a. conduct calculation b. Data Sort —-> Sort By Percent Annual Population Growth —> Low to High or vise versa (will need to sort separately for each year)
******Make sure to copy and paste your “annual population growth data” into a ‘Table’ and save in a Microsoft Word File.
- Please discuss how the annual growth rate changed for the developing countries compared to the industrialized countries. How were they different? Did any of these countries have similar “annual growth rates” in 1969?
- What was the total “world annual population growth rate” for 1969 and 2018?
- Did any of your countries that you choose have a zero or negative population growth rate? If so, please discuss what factors might have led to a stable or zero population growth rate for those countries?
Cystic Fibrosis Inherited Illness Discussion Essay
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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