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.
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.
This activity explores the content and research presented in the short film Genes as Medicine, which tells the story of how scientists succeeded in developing a gene therapy for a type of congenital blindness.
This video describes the case of a patient with retinitis pigmentosa (RP), a progressive disease that leads to blindness, and how physician-scientist Dr. Ed Stone approached the search for the causal mutation.