Help two parents understand the history of a rare genetic condition in their family and how genetic testing might help them plan for the future.
Familial Hypercholesterolemia (FH) is a rare heart condition caused by mutations in a specific gene. Students take on the role of medical geneticists tasked with interpreting and explaining the genetic data of this family. Using their understanding of gene dominance relationships, patterns of inheritance and family pedigrees, students assess the risk that members of that subsequent generations of this family will develop FH. They must also think carefully about how they would communicate this assessment to a patient.
Case Studies