I05 CRISPR-Cas9 nickase-mediated gene editing to treat Huntington’s disease

Murillo, Alvaro, Larin, Meghan, Randall, Emma L, Taylor, Alysha, Lelos, Mariah ORCID: https://orcid.org/0000-0001-7102-055X and Dion, Vincent ORCID: https://orcid.org/0000-0003-4953-7637 2022. I05 CRISPR-Cas9 nickase-mediated gene editing to treat Huntington’s disease. Journal of Neurology, Neurosurgery and Psychiatry 93 (Suppl) , A86. 10.1136/jnnp-2022-ehdn.231

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Abstract

Expanded CAG/CTG repeats cause at least 15 different diseases, including Huntington’s disease. It affects about 1 in 10,000 people world-wide and remains without an effective treatment. Thus, the development of new therapies remains a major unmet medical need. The size of the repeat tract scales with disease severity, therefore, inducing CAG/CTG repeat contractions is an attractive treatment avenue. Our lab has developed the first method capable of achieving this. Here, we show that the CRISPR-Cas9 nickase targeted to the CAG/CTG repeat itself leads to efficient contractions in multiple cellular systems, amongst them, in HD iPSC-derived neurons and astrocytes. Indeed, we found that this approach is specific for the expanded allele and off-targets mutations remained undetected using the whole genome sequencing. This indicates that our approach is a safe for further in vivo work.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine Schools > Biosciences
Publisher:	BMJ Publishing Group
ISSN:	0022-3050
Last Modified:	21 Feb 2025 11:45
URI:	https://orca.cardiff.ac.uk/id/eprint/176220

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