Cystic Fibrosis Patients with G551D Gene Mutation
Order ID |
53563633773 |
Type |
Essay |
Writer Level |
Masters |
Style |
APA |
Sources/References |
4 |
Perfect Number of Pages to Order |
5-10 Pages |
Description/Paper Instructions
Cystic Fibrosis Patients with G551D Gene Mutation
I’m working on a biology project and need guidance to help me understand better.I only need slide 4 done please.
I need assistant on part of a project for biology.I need to complete slide 4. Completely and following guidelines.This is a group project. My code to complete the project is CODE:G551D
Cystic Fibrosis Research Project
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
https://hopkinscf.org/
www.cfsource.com
https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekor-tezacaftorivacaftor-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:
https://hopkinscf.org/knowledge/cftr/#section5
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.
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:
Your variant alone
Your variant in both positions (located on both chromosomes)
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-Modulator-Therapies/
POWERPOINT PRESENTATION:
Your project should be presented using Power-Point and be in the range of 4-6 slides.
Suggested Powerpoint slide content
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?
https://www.vertextreatments.com/
https://www.cff.org/Life-With-CF/Treatments-and-Therapies/Medications/CFTR-Modulator-Therapies/
https://investors.vrtx.com/news-releases/news-release-details/fda-approves-symdekor-tezacaftorivacaftor-and-ivacaftor-treat
Oral Presentation
On the last day of class, each group will give a short oral presentation about their specific findings about their variant. The presentation should be no more than 5 minutes per team and focus on summarizing the key findings about their variant or variant combinations and the possible treatments available for that combination.The team should NOT focus on background information about CF such as general signs, symptoms and general genetics. The presentation should be about the specific information that the group has been assigned.All members of the team must participate to obtain credit for the project.
Possible Risk of Secondary Structure Questions
I need a help with Primer Design Activity. I have attached all the documents.
Please check this link
http://bioquest.org/bioinformatics/module/
RUBRIC
QUALITY OF RESPONSE |
NO RESPONSE |
POOR / UNSATISFACTORY |
SATISFACTORY |
GOOD |
EXCELLENT |
Content (worth a maximum of 50% of the total points) |
Zero points: Student failed to submit the final paper. |
20 points out of 50: The essay illustrates poor understanding of the relevant material by failing to address or incorrectly addressing the relevant content; failing to identify or inaccurately explaining/defining key concepts/ideas; ignoring or incorrectly explaining key points/claims and the reasoning behind them; and/or incorrectly or inappropriately using terminology; and elements of the response are lacking. |
30 points out of 50: The essay illustrates a rudimentary understanding of the relevant material by mentioning but not full explaining the relevant content; identifying some of the key concepts/ideas though failing to fully or accurately explain many of them; using terminology, though sometimes inaccurately or inappropriately; and/or incorporating some key claims/points but failing to explain the reasoning behind them or doing so inaccurately. Elements of the required response may also be lacking. |
40 points out of 50: The essay illustrates solid understanding of the relevant material by correctly addressing most of the relevant content; identifying and explaining most of the key concepts/ideas; using correct terminology; explaining the reasoning behind most of the key points/claims; and/or where necessary or useful, substantiating some points with accurate examples. The answer is complete. |
50 points: The essay illustrates exemplary understanding of the relevant material by thoroughly and correctly addressing the relevant content; identifying and explaining all of the key concepts/ideas; using correct terminology explaining the reasoning behind key points/claims and substantiating, as necessary/useful, points with several accurate and illuminating examples. No aspects of the required answer are missing. |
Use of Sources (worth a maximum of 20% of the total points). |
Zero points: Student failed to include citations and/or references. Or the student failed to submit a final paper. |
5 out 20 points: Sources are seldom cited to support statements and/or format of citations are not recognizable as APA 6th Edition format. There are major errors in the formation of the references and citations. And/or there is a major reliance on highly questionable. The Student fails to provide an adequate synthesis of research collected for the paper. |
10 out 20 points: References to scholarly sources are occasionally given; many statements seem unsubstantiated. Frequent errors in APA 6th Edition format, leaving the reader confused about the source of the information. There are significant errors of the formation in the references and citations. And/or there is a significant use of highly questionable sources. |
15 out 20 points: Credible Scholarly sources are used effectively support claims and are, for the most part, clear and fairly represented. APA 6th Edition is used with only a few minor errors. There are minor errors in reference and/or citations. And/or there is some use of questionable sources. |
20 points: Credible scholarly sources are used to give compelling evidence to support claims and are clearly and fairly represented. APA 6th Edition format is used accurately and consistently. The student uses above the maximum required references in the development of the assignment. |
Grammar (worth maximum of 20% of total points) |
Zero points: Student failed to submit the final paper. |
5 points out of 20: The paper does not communicate ideas/points clearly due to inappropriate use of terminology and vague language; thoughts and sentences are disjointed or incomprehensible; organization lacking; and/or numerous grammatical, spelling/punctuation errors |
10 points out 20: The paper is often unclear and difficult to follow due to some inappropriate terminology and/or vague language; ideas may be fragmented, wandering and/or repetitive; poor organization; and/or some grammatical, spelling, punctuation errors |
15 points out of 20: The paper is mostly clear as a result of appropriate use of terminology and minimal vagueness; no tangents and no repetition; fairly good organization; almost perfect grammar, spelling, punctuation, and word usage. |
20 points: The paper is clear, concise, and a pleasure to read as a result of appropriate and precise use of terminology; total coherence of thoughts and presentation and logical organization; and the essay is error free. |
Structure of the Paper (worth 10% of total points) |
Zero points: Student failed to submit the final paper. |
3 points out of 10: Student needs to develop better formatting skills. The paper omits significant structural elements required for and APA 6th edition paper. Formatting of the paper has major flaws. The paper does not conform to APA 6th edition requirements whatsoever. |
5 points out of 10: Appearance of final paper demonstrates the student’s limited ability to format the paper. There are significant errors in formatting and/or the total omission of major components of an APA 6th edition paper. They can include the omission of the cover page, abstract, and page numbers. Additionally the page has major formatting issues with spacing or paragraph formation. Font size might not conform to size requirements. The student also significantly writes too large or too short of and paper |
7 points out of 10: Research paper presents an above-average use of formatting skills. The paper has slight errors within the paper. This can include small errors or omissions with the cover page, abstract, page number, and headers. There could be also slight formatting issues with the document spacing or the font Additionally the paper might slightly exceed or undershoot the specific number of required written pages for the assignment. |
10 points: Student provides a high-caliber, formatted paper. This includes an APA 6th edition cover page, abstract, page number, headers and is double spaced in 12’ Times Roman Font. Additionally, the paper conforms to the specific number of required written pages and neither goes over or under the specified length of the paper. |
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