Researchers at Edinburgh University led by Professor Adrian Bird have published in the journal Molecular Cell a study, part funded by RSAUK which takes us a step closer to unravelling the molecular basis of Rett syndrome.

The research shows that MECP2 is a global chromatin regulator and interacts with all the genes in the brain cells, contradicting previous thinking that the protein affected only a handful of genes.

Professor Bird said “it may be that, in Rett patients, many brain cells share a generic defect – which would mean this syndrome is less complicated than we feared. More work is needed to investigate this possibility”.

Professor Bird tols Rett UK that this is underpinning information and although not as significant as the mouse breakthrough and not related to theraputic intervention, it is another important step in the right direction.