Dr Aurora Pujol received her MD from the Autonomous University of Barcelona and her PhD in Cell and Molecular Biology from the University of Heidelberg/ German Cancer Research Center. She trained in Human Genetics at the IGBMC, Strasbourg, generating and characterizing mouse models for a rare neurometabolic disorder, adrenoleukodystrophy (X-ALD), combined with residency in Medical Genetics 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 Certification in Laboratory Genomics by the American Board ABMGG, at the NIH, USA. Her lab is a member of the Spanish Network of Rare Diseases CIBERER, and the Undiagnosed Diseases International Network of NIH (UDNI). Dr Pujol serves at prestigious Editorial Boards, and at the European Society of Human Genetics scientific committee.