Funding Research

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.


Current Projects

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.


Spliceosome-Mediated RNA Trans-Splicing Therapy and Protein Replacement in Rett Syndrome

Targeting MeCP2 can be done either at the DNA, mRNA or protein level.  Stuart Cobb is working on all of these approaches in parallel.  His work with gene therapy  is being carried out as part of RSRT's Gene Therapy Consortium.

Both the DNA and protein approaches might have a complication due to potential dosage issues (too much MeCP2 may be harmful). So Dr Cobb is also pursuing an alternative technology called Spliceosome-Mediated RNA Trans-Splicing (SMaRT). This technology allows a mutation to be spliced out and repaired in RNA, the intermediate stage between DNA and protein in the cell. The advantage is that this approach avoids any potential over-expression issues that could result from directly modifying DNA or giving extra protein. Dr Cobb’s approach aims to correct mutations in the intermediate RNA transcript, allowing the MECP2 gene and the MeCP2 protein product to remain under normal gene expression controls.

SMaRT technology will take advantage of the fact the RNA transcripts are edited (spliced) to make smaller molecules that contain the final blueprint for making the protein. Regions of the RNA transcript that are spliced out, linked together, and part of the final edited RNA are called exons, and the regions that are spliced out of the RNA transcript and not used are called introns. Dr Cobb’s approach will use an engineered MeCP2 RNA that contains a sequence of spliced-out intron 2 followed by a correct exon 3 and exon 4. The intron 2 sequence allows the engineered RNA to bind to the mutated MeCP2 RNA at the matched intron 2 sequence location. Then, during RNA splicing, the alternative and correct exon 3 and exon 4 can be used to create the final RNA molecule and protein blueprint, free of mutations. Since almost all Rett syndrome mutations occur in exon 3 or exon 4, Dr. Cobb predicts that 97% of Rett-causing mutations could be corrected with this approach. 

Development of SMaRT technology could become a therapy for clinical development in Rett syndrome patients and others with related MECP2 disorders.  We think that's pretty exciting!


 

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