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Solving a Medical Mystery with Bioinformatics

The Personal Genomics Journey of Dr. James Lupski

Co Authors:

Kelly L. Brackett
JMCRS Animal Resources
The Jackson Laboratory

Gareth R. Howell
The Jackson Laboratory

Charles G. Wray
Genomic Education
The Jackson Laboratory

Sarah A. Wojiski
Genomic Education
The Jackson Laboratory for Genomic Medicine


This computer-based case study guides students through publically available bioinformatics databases to solve a medical mystery. The case relates the real-life story of Dr. James Lupski, a renowned geneticist, who has a rare form of Charcot-Marie-Tooth Disease (CMT), a degenerative peripheral neuropathy. Students assume the role of a family physician who meets Dr. Lupski prior to his diagnosis. Students then investigate his symptoms to provide a medical diagnosis and, alongside Dr. Lupski, investigate his published genomic data and the causative gene, SH3TC2. Since there is no cure for the disease, students explore animal model databases to determine if there is an animal model of CMT and if it is being actively researched in order to provide Dr. Lupski with some hope. This exercise was initially developed for upper-level high school biology students and is appropriate for use in honors or advanced placement biology, biotechnology or genetics electives. It could also be adapted for use in introductory undergraduate biology courses.

  • Compare bioinformatics databases and the types of data they provide.
  • Find primary sources in biomedical research.
  • Use bioinformatics databases to investigate a genetic disease and obtain gene information.
  • Use a genome browser to view sequence alignments and identify genetic similarities and differences between humans and animal models.
  • Evaluate the utility of an animal model, given sequence conservation data and phylogenetic trees.
  • Discuss the value of animal models in biomedical research.
  • Assess the state of disease research through synthesizing bioinformatic data.
Keywords: Bioinformatics; CMT; animal models; databases; Charcot-Marie-Tooth; genome browsers; mouse models; SH3TC2; genomics; James Lupski; genetic disease; genetics;
Topical Area: Scientific method
Educational Level: High school, Undergraduate lower division
Formats: PDF
Type/Method: Interrupted
Language: English
Subject Headings: Bioinformatics   Biology (General)   Biotechnology   Genetics / Heredity  
Date Posted: 7/23/2019
Date Modified: N/A
Copyright: Copyright held by the National Center for Case Study Teaching in Science, University at Buffalo, State University of New York. Please see our usage guidelines, which outline our policy concerning permissible reproduction of this work.

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