Interrogation of Genome Editing Strategies as a Therapeutic Modality for MECP2 Duplication Syndrome

Ronald Cohn, MD | The Hospital for Sick Children

$570,000 AWARDED

Dr. Cohn, President and CEO of The Hospital for Sick Children, is a highly respected physician scientist and a wonderful addition to the MECP2 Duplication Syndrome (MDS) research community.  He and his team have an impressive track record in the development of genome editing strategies.

This project is an exciting “one and done” therapeutic strategy that uses CRISPR technology to remove the duplicated region in MDS restoring normal dosage of the MECP2 gene.

An enzyme called Cas9 is guided to the duplicated MECP2 DNA sequences and cuts at the exact same locations in the DNA, marking the duplicated region that needs to be spliced out. The cell corrects the cuts by removing the intervening DNA, leaving only one full copy of MECP2. A mouse model that would allow testing of this strategy has already been developed and is ready to go.

Dr. Cohn and his colleagues have already shown that this strategy works successfully in MDS patient fibroblasts.  They have also shown symptom improvement in a mouse model of Duchenne Muscular Dystrophy using the same approach.

Having a vector or other delivery method that efficiently spreads throughout the brain will be key. Research in this area already funded by RSRT for Rett syndrome can be fully leveraged for MDS.


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