Greater Barcelona Metropolitan Area
My research career has been mainly focused on translational investigation in the field of mitochondrial diseases and gene therapy, as it is proved by my publications (Gene Therapy 2011; Molecular Therapy 2014; Human Gene Therapy 2016, 2017 and 2019). After my degree in Biology at the Universitat Autònoma de Barcelona (UAB) in 2001, I was awarded a grant from the Spanish Foreign Affairs and Cooperation Ministry to initiate my research career in biological control of pest at Dr Sergio Orduz laboratory, and achieved my Master degree by the Universidad de Antioquia (Colombia) in 2005. Then, I obtained a predoctoral position at the research group led by Dr R. Martí in 2006, at the Vall d’Hebron Research Institute, in Barcelona. I developed in this group my PhD thesis project, co-supervised by Dr R. Martí and Dr J. Barquinero. During this period I published the proof-of-concept article pioneering the use of lentiviral vectors for the gene therapy of MNGIE. After getting my PhD degree in Molecular Biology, Biochemistry and Biomedicine in 2011, I obtained a 2-year Postdoctoral Fellowship granted by the American United Mitochondrial Disease Foundation to continue with my research focused on gene therapy for MNGIE. The results obtained from this work expanded the preclinical evidence that gene therapy using an AAV targeted to the liver can be a safer therapeutic tool for MNGIE. This approach encouraged us to apply for the Orphan Drug Designation for this medicinal product, which was obtained from the EMA (EU/3/14/1326) and FDA (14-4410) in 2014, and the scientific advice to develop a phase I/II clinical trial with this orphan drug in 2015, in the frame of an international consortium created to conduct this clinical trial. In parallel, I have worked in other collaborative projects with different national and international groups, whose results are endorsed with scientific publications and the generation and licensing of a patent for the treatment of a group of mitochondrial diseases (PCT/EP2016/062636). In 2017 I was awarded a PERIS grant from the Health Department of the Catalan Government that allowed me to initiate a new research line focused on the generation and characterization of a mouse model of a mitochondrial disorder, funded by the Obra Social La Caixa Foundation and the Mencía Foundation. In addition, I keep working on my research on gene therapy for MNGIE and also I participate in a research line aimed to develop a nucleoside therapy for mitochondrial DNA depletion and deletions syndromes.