A Muscular Dystrophy Case Study Illustrating the Phenotypic Effects of Mutation

Mutations in genes can lead to a variety of phenotypes, including various human diseases. Students often understand that particular mutation single gene causes disease phenotype, but it is more challenging illustrate complex genetic concepts such as similar mutations the same cause very different phenotypes or different phenotypes. We originally designed this lesson build off CourseSource “A clicker-based case study untangles student thinking about processes central dogma,” also stand alone. In our lesson, students read listen real-life featuring patient who doggedly pursues underlying her own disease—muscular dystrophy—and stumbles upon gives an athlete seemingly opposite phenotype: pronounced muscles. The leads overlay their understanding dogma and on protein function disease, compares muscular dystrophy progeria, concludes with ethical challenge. tested both independent homework assignment, well small group in-class worksheet formats were successful. Primary Image: Line drawing space filling diagram LMNA illustrating progeria.