Dr Hana Pavlů-Pereira,

Hana Pavlů-Pereira graduated in Biochemistry at the University of Chemistry and Technology in Prague and started her scientific activity in the field of lysosomal storage disorders at the Center of Inherited Metabolic Diseases at Charles University in Prague, where she focused on studies on molecular mechanism of acid sphingomyelinase deficiency. In collaboration with EMBL in Heidelberg, INSERM in Lyon and Institut für Organische Chemie und Biochemie in Bonn she contributed to the classification of the intermediate A/B form of Niemann-Pick disease. After moving to Portugal, she joined the group of Metabolism & Genetics at the Research Institute for Medicines (iMed.ULisboa) and has been involved in the research of pyruvate dehydrogenase deficiency. In collaboration with ITQB in Oeiras she is currently focused on studying molecular mechanisms underlying pathogenic variants and potential therapeutic effect of small molecular weight compounds, namely arginine and thiamine.