This activity builds on information presented in the short film Genes as Medicine. Students interpret actual pedigrees to determine the inheritance pattern of Leber congenital amaurosis (LCA), an inherited form of blindness. They also examine protein sequence data to explore mutations that can cause LCA.
This animation shows how mutations in an ion channel protein lead to the genetic disease cystic fibrosis. The animation also discusses how research on this protein has been used to develop treatments for the disease.