Towards a new era in medicine: therapeutic genome editing.

Matthew H Porteus

doi:10.1186/s13059-015-0859-y

Abstract

Genome editing is the process of precisely modifying the nucleotide sequence of the genome. It has provided a powerful approach to research questions but, with the development of a new set of tools, it is now possible to achieve frequencies of genome editing that are high enough to be useful therapeutically. Genome editing is being developed to treat not only monogenic diseases but also infectious diseases and diseases that have both a genetic and an environmental component.

Highlights

Genome editing is the process of precisely modifying the nucleotide sequence of the genome
The importance of gene targeting as a research tool was further highlighted by the awarding of the Nobel Prize in Physiology or Medicine in 2007 to Drs Oliver Smithies and Mario Capecchi for their development of gene targeting in mouse embryonic stem cells and for Porteus Genome Biology (2015) 16:286 their subsequent precise genetic engineering of mice—a transformational advance in understanding human pathophysiology [5, 6]
Even in the earliest days of gene therapy, it was recognized that genome editing might be the ideal approach for curing genetic diseases, but the earliest studies were stymied by the low absolute frequency of gene correction by homologous recombination in human somatic cells (10−6) [7,8,9]

Summary

Introduction

Genome editing is the process of precisely modifying the nucleotide sequence of the genome. A critical breakthrough was the discovery that by creating a site-specific DNA doublestranded break (DSB) in the target gene it is possible to stimulate genome editing by homologous recombination by 2–5 orders of magnitude, providing overall frequencies of 5 % or more [10,11,12,13].

Results

Conclusion