Gene targeting and gene repair

Haema 2016; 7(1): 111-119

by Eleni Papanicolaou1,2, Nicholas P. Anagnou1,2

1Laboratory of Cell and Gene Therapy, Center for Basic Research II, Biomedical Research Foundation of the Academy of Athens (I.IB.E.A.A), Athens, Greece,
2Laboratory of Biology, University of Athens School of Medicine, Athens, Greece

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Over the last decade, the discovery of important novel regulatory elements of the human genome combined with the continuous developments of novel technologies in the field of molecular biology and biotechnology, have conferred important conceptual insights for the implementation of new molecular approaches for the treatment of monogenic disorders. The advent of induced pluripotent stem cells and the design of novel nucleases that target specific areas in the genome, have rendered gene editing approaches as pivotal players in the field of therapy of inherited diseases. Gene targeting is anticipated to outperform the classical approach of gene therapy via gene addition utilizing retroviral vectors, mainly due to the inability, so far, of this approach, to establish a targeted integration of the vector into the host genome. This review presents the current status of gene editing and gene repair, reviews the recent results and discusses how this knowledge can be used to eventually develop a safe and effective molecular approach for the treatment of monogenic diseases and particularly of hemopoietic disorders.