Edinburgh University Research Study offers treatment hope for Rett syndrome

We are delighted to report to you the findings of pioneering research at the University of Edinburgh. The project has been partly funded by RSAUK with help from money received from the Jeans for Genes Campaign.

The research led by Professor Adrian Bird at the University of Edinburgh has been focusing on the behaviour of the MECP2 gene. The research found that when the MECP2 was activated in mice, which had previously been born with it switched off, symptoms such as breathing and mobility problems ceased. Over a four week period, the mice often became indistinguishable from healthy counterparts.

The findings give impetus to ways of treating Rett syndrome. Potential treatment, following on from the research, could range from overriding the mutated version of MECP2 with the activation of a healthy version of the gene. Alternatively, therapy could focus on drug treatment to inhibit the action of proteins expressed as a result of a MECP2 mutation.

Rett Syndrome Association UK, said: “We are extremely delighted to hear about the results of Professor Bird’s research. This is a very significant step on the road for future therapeutic approaches to Rett syndrome and, whilst the work in this area is still at an early stage, it will give hope to those families affected by Rett syndrome. It is particularly pleasing for us that we have been able to help fund this research that could have such a positive benefit for people with Rett syndrome, their families and carers.”

Prof Adrian Bird led the research and first discovered the MECP2 gene in 1990. He said: “The results we came across were entirely unexpected. Until now it had been thought that Rett syndrome is irrevocable, but our findings show that the damage to nerve cell function is, in fact, reversible. This gives a major boost to the search for treatments or a potential cure.” Comment from Alison Kerr.

If you would like to see the details of the research you can find it on-line at
Science Magazine and there is more information on the Rett Syndrome Research Foundation website. We will keep you informed about this research and its progress through our website and Rett News.