Thanks to the results obtained in the lentiviral vector-mediated gene therapy, and also due to the rapid advance of gene editing strategies, during the last few years our group has initiated new studies aiming at implementing different gene editing strategies to correct hematopoietic stem cells (HSCs) from FA patients.
Although the gene editing mediated by homology directed repair constitutes one of the preferred strategies to correct specific mutations in cells harboring genetic diseases, this is not the preferred DNA repair mechanism in HSCs and this is even more pronounced in FA, where HDR is partially hampered. For these reasons our group is implementing novel precise gene editing strategies to correct specific mutations in FA patients by the use of Non-Homologous End Joining (NHEJ) mediated approaches. More recently, very novel editing strategies based on DNA double strand break-free methods developed by David Liu’s lab, known as Base editing and Prime editing. Our final goal of this research is to develop a toolbox of gene editing approaches to generate precise medicines for the most frequent mutations in FA patients.
To extend the application of gene editing to FA patients that have a reduced reservoir of HSPCs we are also testing the possibility of performing in vivo gene editing strategies using a variety of viral and non-viral vectors.
