Lesson Seven: Who Should Pay? Funding Research on Rare Genetic Diseases

In this lesson, students learn about Leigh’s disease, a rare form of Subacute Necrotizing Encephalomyelopathy (SNEM) that can be caused by a deficiency in cytochrome c oxidase (complex IV). Deficiencies in the large, 13-subunit cytochrome c oxidase complex can result from defects in one of several proteins, including cytochrome c oxidase subunit 1, the protein encoded by the DNA barcoding gene, and examined in Lesson 5. Without the COI protein, cells are unable to harness usable energy from glucose. This is a jigsaw exercise. Students are assigned or choose one of four stakeholder parties. They meet in “like” interest groups to become more familiar with that stakeholder’s position and concerns. Afterwards, they meet in “mixed” groups with a representative from each of the stakeholder groups. Students identify areas of agreement and disagreement, and propose a compromise to recommend to Congress regarding funding for rare disease research. In Lesson Seven, students learn how pediatric neurologists might use bioinformatics tools in their career.

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