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Kelly L. Brackett
Scientific Advisor
JMCRS Animal Resources
The Jackson Laboratory
Solving a Medical Mystery with Bioinformatics: The Personal Genomics Journey of Dr. James Lupski

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.