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.
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 and for drug target identification. These involve redox and metabolic homeostasis, mitochondria dynamics, proteostasis and cellular stress responses. Tailored preclinical tests have yielded four licensed patents, three phase II/III clinical trials, and two Orphan Drug Designations. A second research line applies clinical and functional genomics for diagnostics and gene discovery. We are identifying novel disease-causing genes and modeling disease using iPS-derived brain organoid cultures and zebrafish. Results are advancing scientific knowledge while serving the undiagnosed patient's community.
Key wordsSystems neuroscience, Neurodegeneration, Clinical Genomics, Rare disease, Leukodystrophies, Adrenoleukodystrophy, Integrative -omics, Disease Modeling