Bioinformatics

Biography

Maria Vittoria Cubellis graduated in Chemistry from the University of Naples and obtained the PhD in Biochemistry. She is professor of Biochemistry and Bioinformatics at the University "FedericoII" of Naples. Her recent research interests are focused on pharmacological chaperones for the treatment of rare diseases and in particular on the prediction of mutations associated to Fabry disease which are responsive to drugs. She is also trying to extend the approach with pharmacological chaperones to other pathologies, such as disorder of glycosylation type 1a, a disease for which there is no cure at present.

Abstract

Abstract : Workshop on Disease specific databases for personalized medicine: Fabry disease as a case of study