Professor in Biochemistry and Molecular Biology
Principal Investigator at the Institute of Neurosciences
Universitat Autònoma de Barcelona
08195 Cerdanyola del Vallès, Barcelona
Spain
T:+34 93 581 4203
E: assumpcio.bosch@uab.cat
Assumpció Bosch, full professor in Biochemistry and Molecular Biology, is working at the Institute of Neurosciences at the Universitat Autònoma de Barcelona (UAB), in Spain. She has more than 25 years of experience in the characterization of murine models of disease and in preclinical gene therapy studies for rare disorders involving the nervous system. In the field of MLC, her studies provided the first therapeutic approach for MLC, demonstrating that an AAV vector driving MLC1 expression in astrocytes delivered into the cerebellum of a mouse model of MLC, was able to significantly reduce myelin vacuolation and to restore the mislocalization of affected proteins related to MLC disease. More importantly, this was achieved in treated mice at all ages indicating not only the preventive potential of this strategy but also its therapeutic capacity. She is currently working on the distribution of the vector to the whole mouse brain as it would be probably needed in human patients, looking for the most appropriate AAV vector, and the most efficient and less invasive route of administration, and analyzing whether this histopathological correction is able also to revert the motor deficits of MLC mouse models. Finally, an important part of her studies are focused on the definition of in vivo non-invasive tests or biomarkers to follow disease correction overtime in this animal model that could finally be translated to human MLC patients.
