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Select a Disorder/Disease State that is a Result of a Genetic Alteration

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Category:

Advanced Pathophysiology

Genetics Paper

Purpose:  To provide an opportunity to explore the genetic transmission and resulting pathophysiology of a specific disease/disorder of interest to the Advanced Practice Nurse student.

General Guidelines:  Select a disorder/disease state that is a result of a genetic alteration.

The paper should be no more than 3 pages (excluding references) and follow APA format.  Include a minimum of 3 references – the McCance & Huether text is a starting point and IS NOT included in the 3 references.  The paper must be submitted via Blackboard (specific instructions for how/where to submit will be provided separately); papers not submitted via Blackboard will not be graded

Guidelines/Grading Criteria

  1. Identify and describe a genetic disease/disorder, including incidence and prevalence and specific populations/ages at risk. (10 pts)
  2. Describe the genetic alteration – including the specific gene/locus affected and patterns of transmission (e.g. parent to child; affected individual to their children). Include how the genetic alteration is diagnosed and tested.  (25 pts)
  3. Describe the physiologic effect of the genetic alteration – compare and contrast normal vs altered physiology that results from the genetic alteration. (40 pts)
  4. Provide 3 teaching points to provide a patient/family regarding the genetic alteration. (15 pts)
  5. Present information in a scholarly manner (clear, grammatically correct), using APA format for citations and references. (10 pts)

 

Word Count: 900-1000

No. of Pages: 6

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