Many families Rett families will look to the reversal of Rett Syndrome by laboratory scientists in 2013 as a land mark moment. Before that date, there was no realistic prospect that Rett Syndrome could be cured in people.
After it, we knew that it was possible to cure Rett, and the race was on to make that cure safe and effective in people.
Progress in science
In recent years, the team that was behind the reversal of Rett Syndrome has been making similarly extraordinary progress in MECP2 duplication research.
In 2013, they demonstrated the exact role of MECP2 in the brain – to regulate the expression of other genes;
In 2017, they determined the molecular structure of the interface that allows this to happen;
Finally, in 2018 they demonstrated the cause of MECP2 duplication syndrome;
This final finding has been replicated by another research group, meaning we can be scientifically confident that the cause of MECP2 duplication syndrome is now well understood.
Progress to a cure
Excitingly, now that the group know the cause of MECP duplication syndrome, they are ramping up work to find a cure. They are looking for a molecule that can inhibit the route by which too much MECP2 reaches the brain.
Over the next year they will be screening thousands of potential compounds that could achieve this
Importantly, as this is not a gene therapy, but a more conventional drug, there are many existing examples of treatments that inhibit similar processes in the brain.
All of this means we can be cautiously optimistic that a cure for MECP2 Duplication Syndrome is now a realistic target, just as it is for Rett Syndrome.
One Rett disorders community
This progress is amazing news for families of people with MECP2 Duplication Syndrome. But it’s also great news for families of people with traditional Rett.
A major focus of gene therapy research in Rett Syndrome is how to regulate the amount of health MECP2 is delivered to the brain. Delivering too much MECP2 can cause the symptoms of MECP2 Duplication Syndrome.
That means the drug developed to inhibit the cause of MECP2 Duplication in the brain could be a major step forward for Rett gene therapies.
At the same time, the original work done on Rett Syndrome by the researchers greatly advanced understanding of the gene and has enabled their current work on MECP2 Duplication Syndrome.
Every penny we raise for each disorder benefits us all.