The cure for Rett Syndrome
The mutated MECP2 gene that causes Rett Sndrome was discovered in 1999, leading to a genetic test being available for Rett Syndrome. Prior to this diagnosis was based on presentation of symptoms alone. This discovery led to more research, with a significant breakthrough in 2007, when the amazing discovery that Rett Syndrome is reversible was made. The researchers found that in mice, if the normal levels of protein were restored, all the Rett Symptoms disappeared. Following this, various forms of research are being carried out to find a cure, from gene therapy allowing the “silencing” of the mutated X chromosome, to ways to restore normal levels of protein, as well as bone marrow transplants to arrest and reverse symptoms and drugs to minimise or alleviate some of the symptoms of Rett Syndrome. Rett Syndrome will one day have a cure, the only question is when.