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.

Research interests

Our mission  is to improve disease management of rare brain disorders through precision medicine. This spans the whole spectrum from genomic diagnosis to disease-modifying treatments and biomarker identification. A first research line revolves around adrenoleukodystrophy (ALD), a rare neurometabolic disease made popular by the movie Lorenzo's oil. We are applying strategies for integration of –omic approaches to gain insights into pathomechanisms. These involve redox and metabolic homeostasis, mitochondria dynamics, proteostasis and cellular stress responses. Tailored preclinical tests have yielded four licensed patents on reprofilled drugs and three phase II/III clinical trials for ALD. A second research line aims at gene discovery through clinical genomics.  We are identifying novel disease-causing genes and modeling disease using iPS-derived organoid cultures and zebrafish. Results are advancing scientific knowledge while serving the undiagnosed community.