Genetic Disorder Research Paper (25%):
Each student will choose a unique genetic disorder to research and submit a research paper on. The genetic disorder must be approved by the instructor. The research paper must be written in the American Medical Association citation style and be at least six (6) pages in length excluding the references. The paper must be in 12-point font and double-spaced. All references must be from primary research journal articles. References from websites are also acceptable for this assignment if they are from credible medical or foundational webpages. (See rubric for full score breakdown)

Your paper must include the following sections:

1. Genetic Principles Underlining the Disorder and Mode of Inheritance:
   This section should define in detail the genetic principles and biological mechanisms related to how your disorder is manifested and the mode of inheritance.

2. Genotypic and Phenotypic Features of Your Disorder:
   Define all clinically relevant major genotypes that define your disorder and describe the phenotypical characteristics that are typically associated with the disorder. Discuss the relationship of how the genotype is related to the phenotype. If there is a correlation, explain accordingly. Discuss the symptoms, if any, that are related to your disorder and when patients are typically diagnosed.

3. Detection:
   Discuss the clinical tests that are used to diagnose your disorder. Determine if it can be detected prenatally and if so, how. Discuss if there are any means to determine if a patient is a carrier for the disorder.

4. Clinical Description of the Disorder:
   Discuss the clinical features of the disorder and how the disorder affects the patient from a physiological perspective. What are the molecular mechanisms and the physiological ramifications associated with the disorder? Define the demographics that are commonly affected, including age, gender, and ethnicity.

5. Management and Treatment:
   Discuss what treatments, if any, are available and the effectiveness of each. Identify and discuss any new treatments recently subjected to a clinical trial. If no treatment is available, discuss potential treatment options.

6. Counseling and Inherent Risk:
   Define and discuss the genetic ramifications if the patient, if fertile, has children, and define all the risk factors that put the patient at risk.

Genetic Disorder Presentation (5%):
Each student will present a small, 5–7-minute discussion of their selected genetic disorder. This presentation is meant to serve as a short, informative discussion, not a complete analysis of the disorder. PowerPoint, Google Slides, or any other presentation software is acceptable.

Grading Rubric for Presentation:

• (50%) Present an overview of the genetic disorder. Try to identify the:
  a) common names,
  b) causative mutations,
  c) major phenotypic symptoms,
  d) mode of inheritance, and
  e) who, when, and how someone is affected.
• (10%) Explain why you chose to research this genetic disorder.
• (10%) Include 1–2 questions at the end of the presentation to prompt conversation for the class.
• (10%) Presentation is between 5–7 minutes long.
• (10%) Select and share a piece of artwork that speaks to you and relates to the genetic disorder that you chose. Please include the artist’s name and the reason why you chose the selected piece of art.