Dr Aurora Pujol received her MD from the Autonomous University of Barcelona in 1993 and her PhD in Cellular and Molecular Biology from the University of Heidelberg/ German Cancer Research Center in 1998. She trained in Human Genetics with Prof Jean Louis Mandel at the IGBMC, Strasbourg, generating and characterizing mouse models for a rare neurometabolic disorder, X-linked adrenoleukodystrophy (X-ALD). In 2002, she obtained a position as clinician in Medical Genetics at the Louis Pasteur University Hospital, and combined genetic diagnosis with fundamental molecular genetics research as Junior Group Leader at the IGBMC. In 2005, she moved back to Barcelona as an ICREA Research Professor and Director of the Neurometabolic Diseases Laboratory at IDIBELL. In 2017 she obtained the certification in Clinical Genomics by the ABMGG, at the NIH, USA. Her lab is of international reference for genomic diagnostics and translational research for the leukodystrophies.