This research investigated gene transfer technologies and epigenetic editing to progress toward new treatment options for patients with genetic metabolic liver disease. While individually rare, genetic metabolic liver diseases are collectively common, difficult to treat and carry high morbidity and mortality. Ornithine transcarbamylase (OTC) deficiency is a rare and potentially devastating genetic condition caused by a lack of the OTC enzyme.
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The project used a combinatorial genetic and epigenetic editing approach to achieve restoration of OTC expression in primary human hepatocytes. The project utilised AAV capsid technology (AAV-LB12) in combination with revolutionary lipid nanoparticle (LNP) delivery technology. The results suggest this a promising therapeutic approach. The results from the project were world leading and will be fundamental in supporting future funding applications to underpin additional pre-clinical research and early phase trials. If successful this may lead to late phase trials and the possibility of commercialisation, and ultimately new treatments for clinical care in patients with genetic metabolic liver disease.
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Lead Investigator
- Professor Ian Alexander
Head, Gene Therapy Unit, Children’s Medical Research Institute
Research Team
- Dr Samantha Ginn Senior Researcher, Gene Therapy Research Unit, Children’s Medical Research Institute
- Dr Sharon Cunningham Senior Researcher, Gene Therapy Research Unit, Children’s Medical Research Institute
- Professor Ian Alexander
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Publications
See Luminesce Alliance Publications – completed research – Curing genetic metabolic liver disease by precise genomic and epigenomic editing
Articles
Research supports new UK collaboration