Construct a hypothetical pedigree demonstrating aspects of the clinical disorder disease

Assessment 1 - Details

Overview

Task description

Assessment 1 is a problem-solving task in which you are presented with a clinical disorder and you must construct a hypothetical pedigree demonstrating aspects of the disease with an accompanying literature review.

Neurofibromatosis, type 1 (NF1) is an autosomal dominant condition which is fully penetrant but has variable expressivity. This variability is seen within the one family, even though affected individuals have exactly the same mutation. You will be asked to construct a hypothetical pedigree consistent with the inheritance pattern of the disease and fully explain the genotype and phenotype of each individual, exploring the relationship between the two in the pedigree you have designed. You will review the literature on the disorder and relate this information back to the case provided.

Learning outcomes measured

1. Analyse genetic diseases presenting in humans. 
2. Apply genetic information to the principles of recurrence risk and genetic counselling.
3. Generate reports outlining the clinical and molecular basis of genetic disease in humans.

What you need to do

Construct a four-generation pedigree demonstrating a theoretical family with NF1 (minimum 20 people). Clearly label each individual and construct the pedigree using standard pedigree nomenclature. Clearly indicate which individuals in the pedigree are affected by NF1. A neatly hand-drawn pedigree is acceptable or a drawing program such as https://app.diagrams.net/Links to an external site. can be used. (25%)

List each member of the pedigree in a table.  Include their age, genotype and a short description of their phenotype, remembering the variable nature of the disease. (10%)

Review the relevant literature and write up to 800 words exploring the various reasons of phenotypic variability in your theoretical pedigree. Refer to individuals in your theoretical pedigree as possible examples of such mechanisms (e.g. “X” could be affected differently to “Y” because of…). (55%).

Professional language and referencing (10%)

Resources available to complete the task:

• APA referencing guide
• Academic integrity (plagiarism)

What you need to do to prepare for this task:

1. Read the relevant course material.
2. Attend the formative interactive webinar on inheritance and pedigrees.
3. Actively participate in online discussions.
4. Read the criterion reference assessment sheet (rubric) for this task.*

*The Criterion Reference Assessment (CRA) Rubric that markers use to grade the assessment task is included and you should use this as a guide when working on the assessment task. 

What you need to submit

Submission requirements

One Microsoft Word document that contains the following:

• Adhere to bioscientific academic English conventions of grammar, paragraphing, punctuation, and spelling
• Include a cover sheet (including name, student number, unit code, assessment number and word count)
• Use 12 point font
• Use double line spacing
• Use page numbers
• Include total word count
• Use APA referencing for citing all academic literature.
• Include a complete reference list on a new page.