What does this mean for patients with Rett syndrome?
It is still early days, but at the very least it may allow us to understand the genetic basis of the disorder for at least some Rett syndrome patients who have had normal MECP2 gene screening. We also believe that the STK9 protein will control a number of other important genes in the brain, and if we can identify some of these key genes then we should gain an even deeper understanding of how brain function is impaired in Rett syndrome. With this new knowledge will one day come the opportunity to develop effective treatments for Rett syndrome. “Our long-term dream is that some day we may be able to have newborn screening for Rett syndrome, and then be able to start preventative treatments even before the girls show any signs of the disease. This is still a number of years off but with the support of our Fund research will move closer to its objectives and a cure will be found.” Brett Aitken said.
