An inquiry into protein structure and genetic disease: introducing undergraduates to bioinformatics in a large introductory course

Cell Biol Educ. Fall 2005;4(3):207-20. doi: 10.1187/cbe.04-07-0044.


This inquiry-based lab is designed around genetic diseases with a focus on protein structure and function. To allow students to work on their own investigatory projects, 10 projects on 10 different proteins were developed. Students are grouped in sections of 20 and work in pairs on each of the projects. To begin their investigation, students are given a cDNA sequence that translates into a human protein with a single mutation. Each case results in a genetic disease that has been studied and recorded in the Online Mendelian Inheritance in Man (OMIM) database. Students use bioinformatics tools to investigate their proteins and form a hypothesis for the effect of the mutation on protein function. They are also asked to predict the impact of the mutation on human physiology and present their findings in the form of an oral report. Over five laboratory sessions, students use tools on the National Center for Biotechnology Information (NCBI) Web site (BLAST, LocusLink, OMIM, GenBank, and PubMed) as well as ExPasy, Protein Data Bank, ClustalW, the Kyoto Encyclopedia of Genes and Genomes (KEGG) database, and the structure-viewing program DeepView. Assessment results showed that students gained an understanding of the Web-based databases and tools and enjoyed the investigatory nature of the lab.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Computational Biology / methods*
  • DNA, Complementary / metabolism
  • Databases, Factual
  • Databases, Genetic
  • Educational Technology / methods*
  • Genetic Techniques*
  • Genetics, Medical / education*
  • Genome
  • Humans
  • Information Storage and Retrieval
  • Internet
  • Learning
  • Mutation*
  • Software
  • Universities


  • DNA, Complementary