Frederic Tort,

Obtained the bachelor degree in Biology in 1998 (University of Girona). In 2004 he presented his doctoral thesis and obtained the PhD degree with the extraordinary doctoral award (University of Barcelona). In 2009, after two postdoctoral stays, he joined the group of Inborn Errors of Metabolism led by Dra Antonia Ribes as a research scientist (Hospital Clinic, Barcelona).  This group has an extensive clinical and basic research experience applied to the study of the biochemical and genetic bases of inherited metabolic diseases, with special focus on mitochondrial disorders. He participated in the identification of a novel group of disorders associated to defective biosynthesis of lipoic acid, an essential cofactor of several mitochondrial energy metabolism enzymes. This discovery not only contributed to improve the understanding of lipoic acid metabolism, but also allowed other authors to identify disease-causing mutations in other genes encoding proteins involved in this pathway. In the recent years, he has focused his research interest on the development of functional genomics strategies to facilitate the interpretation of genomic data for clinical use, in particular of variants of unknown significance.