Genetic diseases like Choroideremia are caused by a mutation, or defect, in the body’s DNA. These genetic mutations prevent the body from producing a beneficial protein necessary for certain cells to survive. Gene therapy is a type of treatment for genetic diseases in which the normal gene is delivered into the affected cells, enabling this protein to be produced and restore normal cellular function.
Scientists have tapped into the ability of viruses, like the common cold virus, to penetrate into the cells in the human body. Certain viruses have been modified to prevent them from causing disease in people while still maintaining their ability to enter into cells. These modified viruses, called vectors, have been engineered to carry a normal copy of the Choroideremia gene into the body’s cells and restore their normal function and health. Gene therapy for Choroideremia is delivered through an injection into the back of the eye to provide the vector directly to the affected cells. Clinical trials are currently ongoing to test the safety and the effectiveness of gene therapy for treating Choroideremia patients.