Dr. Rio's work is focused on gene therapy and gene editing strategies to correct hematopoietic stem cells in patients with Fanconi anemia. Her team has designed a therapeutic lentiviral vector carrying the FANCA gene that has received orphan drug designation both by the EMA and FDA.
Under the direction of Dr. Juan Bueren and in collaboration with Dr. Julian Sevilla and other members of the FA network in Spain, Dr. Rio is conducting a phase I/II gene therapy trial to correct hematopoietic progenitors from FA-A patients using lentiviral vectors. Following the preliminary results obtained in this gene therapy trial, a global phase II trial is now ongoing under the sponsorship of Rocket Pharmaceuticals, Inc.
Her team is also deeply involved in the optimization of different gene editing strategies to correct hematopoietic stem cells from Fanconi anemia patients both in vitro and in vivo. They have shown that Non-Homologous End Joining (NHEJ)-mediated gene editing can be applied to correct specific mutations in hematopoietic cells from FA patients. Currently, they are implementing new gene editing tools applicable for other mutations. Additionally, they have started to test different in vivo delivery tools with the final aim of correcting hematopoietic stem cells from FA patients in vivo.