Rett Syndrome strikes at random in early childhood, affecting little girls almost exclusively. Each of these girls will lose the ability to walk, talk and use their hands. Most will have difficulty breathing and eating. All are at increased risk of sudden and unexplained death. Many girls live into adulthood, requiring total, 24-hour-a-day care. There is currently no effective treatment but the disease has already been reversed in a mouse model.

The concept behind gene therapy is simple: deliver a healthy gene to compensate for one that is mutated. It has already been proven that a single one-time administration of a gene therapeutic can restore health in the mouse model of this disease. RSRT’s Gene Therapy Consortium is a collaboration of four labs that are in their third year of working together to develop effective methods to use Gene Therapy to reverse Rett Syndrome in people.