Speaker Detailed

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Maria Veiga da Cunha

Maria Veiga-da-Cunha obtained her degree inBioengineering and Agricultural Sciences from the University of Lisbon(Portugal) and from UCLouvain (Belgium) in 1987. She obtained her D. Phil in1990, in bacterial metabolism, in the department of biochemistry in theUniversity of Oxford (United Kingdom). As a post-doctorate stay she first (1990– 1992) joined the lab of Dr. Helena Santos, in the “Instituto de TecnologiaQuimica e Biológica (ITQB)” in Oeiras (Portugal) and learnt to use NMRtechniques to study metabolism. In 1992, she moved to Brussels (Belgium) tojoin the lab of Prof. Emile Van Schaftingen in the de Duve Institute, where shebegan her training in inborn errors of metabolism and intermediary metabolismin eukaryotic cells. She became F.R.S-FNRS Research Associate and UCLouvain AssociateProfessor in 2000 and continued toclosely collaborate with the Emile Van Schaftingen Lab until he become Emeritusin 2018. Since then, she hasher lab dedicated to the study of metabolite repair, with research projectstargeted at understanding the pathophysiological mechanism of still enigmaticinborn errors of metabolism, that seek to provide new treatments for thesepatients. Her discovery of the pathophysiological mechanism of two rare formsof severe congenital neutropenia due to a defect in G6PC3 or in patients withGlycogen Storage Disease type 1b, two inborn errors of metabolite repair, was amajor breakthrough in the treatment of these patient’s neutropenia. This hasresulted in the repurposing of a new class of antidiabetic drugs(SGLT2-inhibitors) to treat the neutropenia in these patients.  In only 4 years, since the report of theoff-label treatment of the first 4 GSD1b patients was publish in the journal Bloodin 2020, this has become a worldwide recognized and used treatment for thisrare diseases.