A5083613031- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Cystic Fibrosis Research Advances
- Advanced biosensing and bioanalysis techniques
- CRISPR and Genetic Engineering
- Fisheries and Aquaculture Studies
- Identification and Quantification in Food
- Virus-based gene therapy research
- Regional Development and Management Studies
- Cytomegalovirus and herpesvirus research
- Global trade, sustainability, and social impact
University College London
2023-2025
Great Ormond Street Hospital
2023-2025
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene. The 10th most common mutation, c.3178-2477C>T (3849+10kb C>T), involves a cryptic, intronic splice site. This mutation was corrected CF primary cells homozygous for this delivering pairs of guide RNAs (gRNAs) with Cas9 protein ribonucleoprotein (RNP) complexes that introduce double-strand breaks to flanking sites excise 3849+10kb C>T followed DNA repair non-homologous end-joining pathway, which...
Abstract Primary mitochondrial disorders are an uncommon cause of neonatal hepatic failure. Biallelic pathogenic variants the gene encoding localising enzyme deoxyguanosine kinase (DGUOK) hepatocerebral DNA depletion syndrome leading to acute liver failure and early mortality. There currently no effective disease-modifying therapies. In this study, we developed adeno-associated virus 9 (AAV9) therapy approach treat a mouse model DGUOK deficiency that recapitulates human disease. We delivered...