Eva's Friends is a small charity which strives to have a big impact
We are committed to funding cutting-edge research that has the potential to provide treatments and cures for rare neurological conditions in children. Charity trustees aim to select the very best projects which are most likely to make a difference to the field of paediatric neurological research.
Eva's Friends is working in collaboration with the Rett Syndrome Research Trust (RSRT) to fund an exciting research project into gene therapy. RSRT have an established global network of research teams dedicated to finding treatments and cures for Rett Syndrome and MECP2 related disorders. By working with RSRT, we are able to leverage RSRT's extensive resource base and allocate funding quickly and efficiently. Our collaboration with RSRT makes sure that the money you donate works as hard as possible.
MECP2 is a gene located on the X chromosome. The protein this gene produces (MeCP2 - with a small "e") is found in all cells in the body with high concentrations found in neurons in the brain. MECP2 ensures the maturation of the central nervous system as well as creating synaptic pathways essential for brain development. MECP2 mutations cause lifelong neurological disorders that severely affect children's lives. There are a number of MECP2 disorders of which Rett syndrome is one. Many children with Rett syndrome are unable to walk, speak or use their hands. It is a severe and debilitating disorder which robs children of the lives they deserve to lead. However, there is hope. Rett syndrome is one of a few neurological conditions which has shown marked symptom reversal in the laboratory.
In collaboration with RSRT, Eva's Friends is currently funding an exciting UK based project headed by Dr Stuart Cobb at the Cobb Lab, The University of Edinburgh. A description of the project is provided below, along with a very helpful video that explains the project in easy to understand terminology.
"We are grateful for... [the] support which has enabled us to drive forward our efforts to develop in innovative form of gene therapy for Rett syndrome. Our trans-splicing therapy replaces the faulty MECP2 gene without the drawbacks of traditional forms of gene therapy. With the most recent award... we are excited to be able to test new ways to enhance the effectiveness of the approach. We are upbeat about our work and are optimistic that a genetic therapy for Rett syndrome will become a reality in the years ahead." Stuart Cobb, The Cobb Lab, The University of Edinburgh
Spliceosome-Mediated RNA Trans-Splicing Therapy and Protein Replacement in Rett Syndrome - The Cobb Lab