Gene Replacement Therapy

Gene replacement therapy is a cutting-edge treatment that involves delivering a healthy copy of the CASK gene to the brain using a harmless virus in order to correct or replace the faulty gene responsible for the disease. The healthy CASK gene could then produce a healthy version of the CASK protein to help compensate for the defective or missing gene that causes the disease. This approach could potentially address the root cause of the disorder and therefore improve many of the symptoms.

The therapy uses a harmless virus as a delivery vehicle. The virus is harmless because it has been modified so that it cannot cause disease. Scientists insert the healthy CASK gene into the virus. The modified virus is then injected into the patient’s body, where it will travel to the brain. Once it reaches the brain cells, the virus incorporates the healthy CASK gene into their genetic material. Now that the healthy CASK gene is present in the brain cells, they are able to produce the healthy, functional CASK protein. This new protein will be able to compensate for the faulty or missing gene, helping to restore normal cellular processes that are disrupted in CASK-related disorders. By restoring the function of the CASK gene, gene replacement therapy aims to reduce or eliminate symptoms such as seizures and motor impairments.