Dr Aurora Pujol received her MD from the Autonomous University of Barcelona in 1993 and her PhD in Cell and Molecular Biology from the University of Heidelberg/ German Cancer Research Center in 1998. She trained in Human Genetics with Prof JL Mandel at the IGBMC, Strasbourg, generating and characterizing mouse models for a rare neurometabolic disorder, adrenoleukodystrophy (X-ALD), combined with diagnostic activities as Medical Geneticist at the Louis Pasteur Hospital. In 2005, she became ICREA Professor and Director of the Neurometabolic Diseases Lab at IDIBELL. In 2017 she obtained the specialty in Clinical Genomics by the American Board ABMGG, at the NIH, USA. Her lab is a member of the Spanish Network of Rare Diseases CIBERER, and of the Undiagnosed Diseases International Network of NIH (UDNI), USA. Dr Pujol serves at the Neurobiology of Disease and J of Neuroscience Research Editorial Boards. She is a reference for translational genomics for the leukodystrophies.