CRISPR/Cas9-mediated somatic correction of a novel coagulator factor IX gene mutation ameliorates hemophilia in mouse.

Guan, Y et. al. EMBO Mol Med (2016) http://www.ncbi.nlm.nih.gov/pubmed/26964564

Hemophilia B is a genetic blood clotting disorder that results from a mutation in coagulator factor IX (FIX) normally treated through intravenous deliver of FIX.  As an increase in FIX levels by as little as 1% can lead to significant clotting improvement, Hemophilia B is uniquely suited for gene therapy treatment.  Guan et al. utilized the CRISPR/Cas9 system and homology-directed repair to correct the mutation in the FIX gene.  While the HDR rate was found to be 0.56% efficient with a single-stranded DNA donor and 1.5% efficient with a double-stranded plasmid donor, the rate of repair was great enough to restore hemostasis.

Author: Advanced Analytical

Advanced Analytical Technologies, Inc. (AATI) simplifies complex genomics workflows to accelerate research and discovery in pharmaceuticals, life science, biofuels, biotechnology and healthcare.

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