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
|
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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