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Solving a Medical Mystery with Bioinformatics

The Personal Genomics Journey of Dr. James Lupski


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


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.


Bioinformatics; CMT; animal models; databases; Charcot-Marie-Tooth; genome browsers; mouse models; SH3TC2; genomics; James Lupski; genetic disease; genetics;

Topical Areas

Scientific method

Educational Level

High school, Undergraduate lower division



Type / Methods




Subject Headings

Bioinformatics  |   Biology (General)  |   Biotechnology  |   Genetics / Heredity  |  

Date Posted


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