Precision medicine in rare diseases
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
Precision medicine in rare diseases
Rare diseases are a heterogeneous group of disorders that affect a small number of people, typically fewer than 1 in 2,000 individuals. Despite their low prevalence, rare diseases collectively affect millions of people worldwide, and their impact on individuals and families can be profound. Precision medicine has the potential to transform the diagnosis, treatment, and management of rare diseases by providing a more personalized approach to care.
One of the key benefits of precision medicine in rare diseases is the ability to accurately diagnose these conditions. Many rare diseases have complex and varied clinical presentations, and traditional diagnostic methods may be insufficient to identify the underlying genetic or molecular defects. Precision medicine approaches, such as whole genome sequencing and transcriptomics, can provide a more comprehensive view of an individual’s genetic and molecular profile and facilitate the identification of disease-causing mutations.
Once a rare disease is accurately diagnosed, precision medicine can also guide treatment decisions. Many rare diseases have no approved treatments or only limited treatment options, and the effectiveness of these treatments can vary widely between individuals. By understanding the specific genetic and molecular mechanisms underlying a rare disease, precision medicine can enable the development of targeted therapies that address the underlying cause of the disease rather than just its symptoms. These targeted therapies have the potential to be more effective, safer, and more cost-effective than traditional therapies.
Precision medicine can also improve the management of rare diseases by providing a more personalized approach to care. Rare diseases often require lifelong management, and individuals may experience a range of symptoms and complications over time. By tracking an individual’s genetic and molecular profile over time, precision medicine can help identify potential complications before they occur and enable earlier intervention. Additionally, precision medicine can provide a framework for patient engagement and empowerment, allowing individuals and families to play a more active role in their care and treatment decisions.
While precision medicine has the potential to transform the diagnosis, treatment, and management of rare diseases, there are several challenges associated with its implementation. One of the main challenges is the cost of genetic testing and other precision medicine approaches, which may be prohibitively expensive for many individuals and families. Additionally, the small patient populations associated with rare diseases may limit the feasibility of conducting large clinical trials to evaluate the safety and effectiveness of new treatments.
To address these challenges, there are ongoing efforts to increase access to precision medicine approaches for rare diseases. For example, several countries have implemented national rare disease plans to promote research, diagnosis, and treatment for these conditions. Additionally, there are initiatives to promote data sharing and collaboration among researchers, clinicians, and patient groups to facilitate the development of targeted therapies and improve patient outcomes.
In conclusion, precision medicine has the potential to transform the diagnosis, treatment, and management of rare diseases by providing a more personalized approach to care. By understanding the specific genetic and molecular mechanisms underlying rare diseases, precision medicine can enable the development of targeted therapies that address the underlying cause of the disease rather than just its symptoms. While there are challenges associated with the implementation of precision medicine approaches for rare diseases, ongoing research and technological advances hold promise for the future of rare disease diagnosis, treatment, and management.
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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Precision medicine in rare diseases
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