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BIO 112: Cells, Genes and Inheritance (CGI) GENETIC DISEASE PROJECT: Assignment

Goals of Project

Genetic Disease Project

This project provides an opportunity for you to learn about a genetic disease. You will select a gene mutation (or a small set of related mutants) that results in a disease, and you will trace that mutation through the molecular, cellular and physiological alterations it causes in the diseased person.


  • to introduce you to the various databases that are available, largely as a result of genome projects
  • to introduce you to the primary and secondary literature in cellular and genetic biology
  • to help you integrate what we have been learning in class into a coherent whole that relates to a larger context: disease
  • to communicate effectively, both in writing and orally, in a manner relevant to many career paths (scientific and other)


  • the final product for this project is a poster 
  • the poster will trace the disease from genotype to phenotype by:
    • discuss the structure of a gene
    • identifying a mutation in that gene
    • explaining the effect on mRNA production and protein expression
    • describing how this affects cell physiology and results in a disease
    • including unique features of a given disease such as altered DNA structure, or unique pattern of inheritance, or ecological/evolutionary implications 
  • the information will be presented in panels; three are required for each poster and others will vary in number and type according to disease topic. The three required panels are:
    • Gene and Transcript Panel: includes such features as size of gene, number of exons, mRNA size, alternative splicing, etc.
    • Protein Panel: includes such features as domains, size, protein interactions, three-dimensional model, post-translational modifications, etc.
    • Mutation Panel: nucleotide and amino acid change, variants, allelic frequency,impact on protein structure, etc.

Sources of information

  • genomic databases introduced in lab
    • consult and cite as many as necessary to present required information
  • primary scientific research articles that you identify and read
    • each group member is responsible for selecting one article that will provide at least “two bullet points” of information on the poster
    • one article that describes a mutation in detail; all members of the group should have a clear understanding of this article.
  • use proper citation style as described elsewhere at the library course page for this assignment


  • you will work in groups of three or four
  • each group member must understand all aspects of the project
  • you may divide up the work and delegate pieces of it to different group members
  • in this case, each person is responsible for teaching the others so that everyone in the group has complete understanding of the materia

Poster Presentation

  • the completed posters will be presented to the faculty and the class during the last week of lab in a lab period
  • each individual in the group will take turns being responsible for talking about the poster's contents to the faculty demonstrating that they understand it. Classmates will also be discussing the posters among themselves.


  • Week beginning April 1:  complete the pre-lab assignment posted to Moodle; investigation during the lab period on gene and transcript information 
  • Week beginning April 8: Work in computer lab finding information in databases and the research literature relating to the protein and mutations. DUE: gene and transcript panel
  • Week beginning April 15. No lab - Attend EPIC Expo 
  • Week beginning April 22Groups meet with faculty to review progress. DUE: protein panel and mutation panel 
  • Week beginning April 29Poster presentations – final and complete posters are due at the beginning of lab period. DUE: Present your poster!


This project is a big one with significant impact on your grade

  • the three preliminary panels are worth 10 points each
  • the final poster is worth 100 points total: 90 points as a group grade and 10 as an individual grade
  • the individual grade will be based on interactions with faculty and TAs in meeting about the panels and in interactions with you on the day of the poster presentation
  • group members will also evaluate each other's contributions to the project and any confirmed inequities in contributions will result in a lower grade for the person/s who did not fulfill their responsibilities

Earlham College • 801 National Road West • Richmond, Indiana 47374-4095