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 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 Board Certification 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 prestigious Editorial Boards, and at the European Society of Human Genetics scientific committee.
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. A first research line revolves around adrenoleukodystrophy (ALD), made popular by the movie "Lorenzo's Oil". We are integrating multiomic approaches to gain insights into pathomechanisms for drug target and biomarker identification. These involve redox, metabolic and mitochondrial homeostasis. Tailored preclinical tests yielded four licensed patents, three phase II/III clinical trials, and three Orphan Drug Designations. A second research line applies clinical and functional genomics for solving undiagnosed cases and for novel disease and gene discovery. We are modeling metabolic brain disease using iPS-derived brain organoids to advance knowledge on pathobiology while screening drugs to serve our patients.