Overview
For this Case Study, we are focusing on the application of knowledge from Module 4-7 to answer in-depth research questions about a genetic disorder. In your groups you are to select one genetic condition from the list below and answer the following questions.
Genetic Disorder Options:
- Trisomy 21
- Thalassemia
- Cystic Fibrosis
- Tay-Sachs disease
- Sickle Cell Anemia
- Hemochromatosis
- FragileX syndrome
- Klinefelter syndrome
- Triple-X syndrome
- Turner syndrome
- Trisomy 18
- Neurofibromatosis type 1 (NF1)
- Trisomy 13
Answer the following questions for your selected disorder:
- Explain the signs and symptoms of this disorder in a patient.
- Research any possible treatments/therapies and describe how they may increase the quality of life in the patient of the genetic disorder your group is researching.
- Choose one treatment or therapy that is used to help increase the quality of life to describe in detail how it works to relieve the signs/symptoms.
- Develop a scenario in which you may interact with a patient with this genetic disorder.
- What should you keep in mind when interacting with and treating this patient?
- Explain how this disorder occurs at the DNA/chromosome level (i.e., chromosome number, point mutation, etc.).
- Include specific details from the text to support your knowledge about the processes at this level.
- How does this disorder occur? What are the ultimate results and consequences of this disorder?Answer the following questions for your selected disorder in APA format(paragraphs only!):
- Explain the signs and symptoms of this disorder in a patient.
- Research any possible treatments/therapies and describe how they may increase
- Develop a scenario in which you may interact with a patient with this genetic
- Explain how this disorder occurs at the DNA/chromosome level (i.e., chromosome
- How does this disorder occur? What are the ultimate results and consequences of
the quality of life in the patient of the genetic disorder your group is researching.
o Choose one treatment or therapy that is used to help increase the quality of
life to describe in detail how it works to relieve the signs/symptoms.
disorder.
o What should you keep in mind when interacting with and treating this
patient?
number, point mutation, etc.).
o Include specific details from the text to support your knowledge about the
processes at this level.
Demonstration of Knowledge and Understanding of Content | 10 ptsOutstandingThe content in the case study discussion summary revealed pertinent and thoughtful information. They expertly show evidence of knowledge and understanding of the case study.8 ptsGoodThe content in the case study discussion summary mostly revealed pertinent information and includes thoughtful information. They show evidence of knowledge and understanding of most areas of the case study but may be missing some information or detail. 6 ptsProficientThe content in the case study discussion summary revealed some pertinent and thoughtful information. They show basic evidence of knowledge and understanding of some areas of the case study, but major points may be missing in the content or not included wholly.4 ptsNeeds ImprovementThe content in the case study discussion summary revealed little pertinent information and thoughtful information. They show little evidence of knowledge and understanding of the case study and major points are not included in the content.0 ptsUnacceptableThe content is significantly incomplete or lacks any critical thinking and depth. | 10 pts |
This criterion is linked to a Learning OutcomeCritical Thinking and Substance of Responses to Questions | 10 ptsOutstandingStrong evidence of critical thinking is demonstrated. Thoughtful and complete responses are added that directly address all aspects of the case study questions.8 ptsGoodEvidence of critical thinking is demonstrated . Some considerations or connections might be missing specific details or information from the case study. 6 ptsProficientCritical thinking is loosely identified or not properly connected. Details and relationship between thoughts are lacking substantial content within the case study discussion summary.4 ptsNeeds ImprovementCritical thinking is difficult to identify or is severely lacking. Basic thoughts and consideration are demonstrated but do not show means of connections within the case study discussion summary.0 ptsUnacceptableNo critical thinking is identified. Significant detail and considerations to connect points and come to conclusions is not seen. Most or all questions within the case study are lacking a response. | 10 pts |
This criterion is linked to a Learning OutcomeGrammar and Scholarly Composition | 2.5 ptsOutstandingResponses to questions are written well and transition expertly. No grammatical errors are noted.2 ptsGoodResponses to questions are written well with appropriate transitions. Few grammatical errors are noted. 1.5 ptsProficientResponses to questions are written with some difficulty, and transitions and overall sentence structure is lacking. Some grammatical errors are noted.1 ptsNeeds ImprovementResponses to questions are difficult to follow due to issues with sentence structure and transitions. Many grammatical errors are noted.0 ptsUnacceptableResponses to questions are unable to be discerned or understood due to grammatical errors and issues with structure, or responses are wholly lacking. | 2.5 pts |
This criterion is linked to a Learning OutcomeCompletion of Virtual or In-Person Discussion | 2.5 ptsOutstandingStudents met either virtually or in-person to complete the discussion. Hyperlink of meeting was included in document for virtual meeting.0 ptsUnacceptableDid not participate. | 2.5 pts |
Total Points: 25