GENOME EDITING - LONG TERM
Low cost, efficient and reliable tools to edit the genome of living cells for medical purposes
Plausibly available in the long term
(from 10 to 20 years from now)
Genome editing covers a wide spectrum of genetic engineering methods that will allow inserting, deleting or replacing DNA sequences in the human genome. Genome editing can pave new therapeutic strategies oriented to correct harmful genetic mutations in tissues and cells, to insert protective mutations/gene variants, and to treat pathological conditions that are resistant to traditional therapies.
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We identified and selected the low cost, efficient and reliable tools to edit the genome of living cells for medical purposes as an application plausibly available in the long term (from 10 to 20 years from now). Hitherto biomedical research has identified over 8000 human diseases that involve mutations in the DNA sequences of single genes (monogenic diseases). A crucial area of research in synthetic biology focuses on the development of gene editing tools on improving the knowledge about their mechanisms of action, and on their possible therapeutic applications [1].
In general, genome editing covers a wide spectrum of genetic engineering methods, such as TALEs, zinc finger proteins and the CRISPR/Cas9 system, that will allow inserting, deleting or replacing DNA sequences in the human genome [1]. Technically, genome editing implies a precise modification in the nucleotide sequence of a specific region of a genome. It can provide an effective approach to produce new knowledge on the functioning of the (human) genome, and to create standardized tools for modifying the nucleotide sequence for therapeutic purposes. The scientific debate emphasises that genome editing can open new therapeutic strategies oriented to correct harmful genetic mutations in tissues and cells, to insert protective mutations/gene variants, and to treat infectious diseases and other pathological conditions that are resistant to traditional therapies [2].
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In spite of these and other important benefits for the human health, there are still many challenges to face with regard to the efficiency and safety of these techniques. Indeed, it is crucial to study to gain a better knowledge of their mechanisms of action, and of the ways in which they interact with the DNA target sites [3-5]. A more complete understanding of these techniques and of their functioning will be critical to design standardized guidelines and recommendations in order to regulate their use.
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Finally, many scholars have highlighted that the growing technical possibility of germline mutations could reshape significantly the limits of medical intervention on the human body and the boundary between the normal and the pathological. This possibility of radical change raises fundamental ethical issues and citizens should join experts in the attempt to deal with them in a responsible manner
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Relevant references
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[1] Porteus, M.H. (2015), Towards a new era in medicine: therapeutic genome editing, in Genome Biology, in “Genome Biology”, 16, p. 286
[2] Method of the Year 2011, in “Nature Method”, 9 (1), p. 1.
[3] Cox, D.B., Platt, R.J., Zhang, F. (2015) Therapeutic Genome Editing: Prospects and Challenges, in “Nature Method”, 21 (2), pp.121–131.
[4] Esvelt, K.M. and Wang, H.H. (2013) Genome-scale engineering for systems and synthetic biology, in “Molecular Systems Biology”, 9 (1), p. 641.
[5] Zetsche, B., Gootenberg, J.S., Abudayyeh, O.O., Slaymaker, I.M., Makarova, K.S., Essletzbichler, P., Volz, S.E., Joung, J., van der Oost, J., Regev, A., Koonin, E.V., Zhang, F. (2015) Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system, in “Cell”, 163 (3), pp. 759-771.
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