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Rett Syndrome is caused by a mutated gene called MECP2. The gene makes a protein which everyone needs for normal brain function. Scientists at Edinburgh University are exploring a new approach, SMaRT technology as a means of restoring Mecp2 protein and correcting 97% of Rett mutations at source.
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Situation
Rett Syndrome is a devastating condition affecting previously healthy little girls, robbing them of their speech, mobility and the use of their hands in early childhood. There is no cure. Gene therapy has been shown to reverse Rett in murine models of the disease. In GT, broken genes are replaced with an entire copy of the working gene, which can then make the protein. But too much Mecp2 protein is as dangerous as too little. The level needs to be in the Goldilocks zone, ‘just right.’
Solution
Rather than replacing the entire gene, including DNA, SMaRT technology works at the RNA level, allowing scientists to ‘splice out’ the disease causing regions of RNA and bridge healthy RNA together. The advantage of this approach is precision. If effective, SMaRT technology could deliver healthy Mecp2 back to cells without the chance of delivering too much. The goal of the project is to create a single SMaRT therapy that can be moved into development as a therapy for humans, correcting 97%