Increasing MeCP2 levels
Rett Syndrome is caused by a deficiency in the MeCP2 protein. One approach to curing Rett Syndrome is to find a way to replace the missing or damaged MeCP2. In the reversal experiments of 2007, symptoms were reversed as a result of normalizing the MeCP2 levels, where MeCP2 was previously absent.
The projects in this category each explore a different avenue toward replacing the missing or damaged MeCP2. The first, in the lab of Antonio Bedalov, is aimed at activating the MECP2 gene on the silent X chromosome. A second project in the lab of Dr Marisa Bartolomei is exploring the basic mechanisms that keep the silent MECP2 switched off on that inactive X chromosome.
The project in the lab of Stavros Lomvardas is screening drugs in an attempt to find one which reverses the MeCP2 deficit recently found in Olfactory Receptor Neurons.
And finally, two gene therapy projects are now ongoing in the laboratories of Ron Crystal and Brian Kaspar. They are using different vectors to deliver MECP2 genes. We hope that within the next 12-24 months we will know whether gene therapy is a viable option for Rett Syndrome.
Professor Adrian Bird is a collaborator on the Crystal project and is also working on two more approaches to boost MeCP2.