Genetic Disorder Paper: Instructions

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The paper is a summary of information related to a genetic disorder. Each student will select a disorder that interests them. (Please sign up for the disorder that you want to present on the Sign Up Sheet in Laulima. Please do not select the same disorder as someone else).

The paper will present summarized information (in bulleted text format) for the following categories: etiology, pathogenesis, “red flags” that lead to diagnosis, clinical manifestations, treatments, nursing implications, and current clinical trials.

Nursing implications could address aspects of healthcare management, education issues, advocacy issues, and referrals. Avoid exhaustive lists, provide the most important concepts and topics.

Guidance for the paper is provided, as well as a template and rubric, in Laulima. The written summary is no longer than 5 pages with 1 page for references, for a total of 6 pages, double- spaced using bulleted text. This means that you must be judicious with the information that you will present but you should be able to present the most important information related to the disorder within these parameters.

Clinical Presentation:

  • Disease etiology (mutation type and location, incidence, allele frequency in different populations, pedigree of inheritance pattern)
  • Typical clinical presentation (“red flags”, onset of symptoms, first symptoms, classical signs, natural history of the disease progression)
  • Diagnostic method (What is the method used to identify the mutation or confirm diagnosis?)
  • Pathogenesis of the disorder (What is the pathophysiology caused by the mutation?)

Nursing Implications related to:

  • Healthcare management- (medical, psychosocial)
  • Patient education issues
  • Guidance for clinical trials (Give an overview of the types of current clinical trials available. Do not give an exhaustive list)
  • Referrals, access to genetic technologies
  • Advocacy groups and issues
  • Ethical, legal, social issues

Avoid exhaustive lists, provide the most important concepts and topics.

References and Presentation

  • No more than 1 page of references in APA format

Requirements: 5 pages – bullet points & no more than one page reference