This video case study explores the approaches scientists used to identify a mutation that causes retinitis pigmentosa (RP), a progressive disease that leads to blindness.
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 activity explores images of animals with a mutation that affects coloration, which serve as phenomena for learning about skin color genetics and evolution.
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.
This film describes the scientific principles and the research efforts involved in the development of a gene therapy for a congenital form of blindness, and how a young patient benefited from this medical breakthrough.