CONICET PhD fellow
Director: José Luis Barra
PhD Thesis Topic
Biosimilars: Development of biotechnological processes for the production of therapeutic enzymes for the treatment of some lysosomal storage diseases
Lysosomal storage diseases (LSD) are a group of hereditary diseases characterized by a massive accumulation of undigested compounds in lysosomes, due to genetic defects leading to lysosomal enzyme deficiency. Enzyme replacement therapy (ARE) is successfully used for the treatment of 7 of these diseases, with 10 therapeutic enzymes approved for use. Currently, recombinant proteins for the treatment of these pathologies are produced by few international laboratories and are among the most costly drugs based on cost per patient. The objective of this project is to develop the biotechnological processes for the production, at a laboratory scale, of therapeutic enzymes (biosimilars) for the treatment of some lysosomal storage diseases, in order to subsequently transfer them to the state or private production sector. In addition, our objective is also to contribute to the development of new enzymatic derivatives obtained through glyco-engineering / mutagenesis processes, in order to improve their targeting and / or activity and thus obtain more effective therapeutic enzymes. The enzymes that we intend to produce are alpha-galactosidase, for the treatment of Fabry disease (in which glycosphingolipids Gb3 and LysoGb3 are accumulated); and acid alpha-glucosidase, for the treatment of Pompe disease (in which glycogen is accumulated).