Assignment 4: Genetic Disorder Case File

There are many heritable human genetic disorders. Their effects range from mild to severe. To reduce the negative consequences of such a disorder, it is crucial that scientist understand the pattern of inheritance, its precise genetic cause, and options for treatment. It is equally important that such scientific understanding be shared with the individuals and families involved. 


In this assignment, you will create and investigate the medical case history of an individual with a concern about a genetic disorder. After considering the circumstances of the individual and his or her family medical history, you will conduct research to identify the disorder, describe its characteristics, and come up with suggested treatment in a written report.


Assignment Requirements:


Part A: Create a “Patient Medical Case File”

Develop a fictionalized but scientifically plausible case history for a patient concerned about a genetic disorder.


  1. Choose a Genetic Disorder - Select a genetic disorder to investigate. Examples:

    • Cystic fibrosis

    • Hemophilia

    • Sickle cell anemia

    • Lactose intolerance

    • Breast Cancer

Use your textbook or reliable sources to explore these conditions.


  1. Research the Genetic Disorder - Collect detailed information about the disorder:

    • Characteristics

    • Symptoms

    • Inheritance patterns (e.g., autosomal recessive, sex-linked)

  2. Write the Patient Case File:

    • Patient’s Initial Concern (50-100 words):

      • Describe why the patient is visiting the doctor.

      • Example: “The patient has been experiencing unusual fatigue and recurrent respiratory infections.”

    • Medical History Provided by the Patient and Family (150-200 words):

      • Include a story of the patient’s medical background, family history, and observations.

      • Create a Pedigree Chart representing three (3) generations, labeling potential carriers and affected individuals.

    • Results of Medical Exam and Consultation (50-100 words):

      • Include findings from tests (e.g. X-rays, genetic screening, bloodwork).

    • Additional Comments (optional):

      • Add any creative or relevant details that enhance your case file.

Part B: Inheritance, Diagnosis, and Pathology

  1. Inheritance Pattern:

    • Explain whether the disorder is autosomal dominant, autosomal recessive, or sex-linked.

    • Clearly label genotypes on the pedigree chart (e.g., AA, Aa, or aa).

  2. Genetic Cause:

    • Identify the specific gene responsible.

    • State its location (chromosome number and region).

    • Explain its normal function and the protein it codes for.

  3. Effects of the Disorder:

    • Describe how the disorder affects the body.

    • Relate the genetic cause to symptoms (e.g., protein malfunctions leading to health issues).

Part C: Treatment

  1. Current Treatment Options:

    • Research and summarize available treatments.

    • Discuss benefits, risks, and challenges of each method.

  2. Future Prospects:

    • Optional for Bonus: include information about ongoing research or emerging therapies.

Part D: Medical Report

Prepare a report summarizing your findings. Ensure the report is clear, scientifically accurate, and easy for non-experts to understand.

  1. Formatting Requirements:

    • Include headings for each section (e.g., “Inheritance Pattern,” “Symptoms and Diagnosis”).

    • Use visuals such as pedigree charts, diagrams, or tables to support your explanations.

  2. Tone: 

    • Maintain a professional and empathetic tone throughout.


What to Submit:

  • Report (typed, approximately 750-1000 words).

  • Pedigree Chart (hand-drawn or digital).

  • Reference list in APA format (minimum 3 credible sources).


Evaluation Rubric

This rubric will guide your work to ensure you address all the expectations. Let me know if you need clarification or support with any part of the project!



Sample