Coordinator of the Transferrable Skills courses and the CING Lectures site seminar series
Current research focus is the gene therapy of β-haemoglobinopathies and particularly of β-thalassaemia by three different approaches.
Mutation-specific RNAi-supplementation of gene addition.
This strategy employs lentiviral expression vector for permanent gene addition in cell lines and in primary haematopoietic stem and progenitor cells. See e.g. Patsali et al. 2018.
Genome editing of disease modifiers.
This strategy is based on the removal or modification of γ-globin repressors to activate the β-globin-like γ-globin gene and employs designer nucleases and base editors, delivered by lentiviral expression vectors or by electroporation of mRNAs (for TALEN) or ribonucleoprotein complexes (for CRISPR/Cas). See e.g. Loucari et al. 2018.
Homology-independent gene repair.
This strategy is based on the removal of aberrant regulatory elements and employs designer nucleases and base editors, delivered by plasmid transfection or lentiviral transduction for proof of principle and by electroporation of mRNAs (for TALEN) or of ribonucleoprotein complexes (for CRISPR/Cas) towards clinical translation. See e.g. Patsali et al. 2019, Patsali et al. 2019, Patsali et al. 2019, Papasavva et al. 2019.