Rett Syndrome is most often caused by mutations on a gene called MECP2 on the X chromosome. The gene makes a protein which everyone needs for their brains to function properly, but people with Rett Syndrome do not have enough of this protein. In 2007, researchers at Edinburgh University proved that a cure for Rett Syndrome is possible. The scientists did this by using genetic engineering to replace the missing protein in a mouse model. These experiments showed that when the protein is replaced at the right level, the symptoms of Rett Syndrome go away. Gene therapy is one way that the protein can be replaced, and human clinical trials are due to start in 2019.
Reverse Rett was founded in late 2009 by five parents who had each seen the devastating effects of Rett Syndrome up close. Together, we decided to do what we could to impact research into treatments and a cure. With your help much progress has been made and change really is within reach.