Aurora Pujol

Institut d'Investigació Biomèdica de Bellvitge

Life & Medical Sciences

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.

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. 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.

Selected publications

– Guissart C, (35 more coauthors), Pujol A  & Kury S 2018, ‘Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia’, American Journal Of Human Genetics, 102, 5, 744 – 759.

– Jorge-Torres OC et al. 2018, ‘Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice’, Cell Reports, 23, 6, 1665 – 1677.

– Fourcade S, Parameswaran J, Goicoechea L, Launay N, Ruiz M, Sedel F & Pujol A 2018, ‘Beneficial effects of high-dose biotin (MD1003) in models of X-linked adrenoleukodystrophy’, Multiple Sclerosis Journal, 24, 521 – 522.

– Fourcade S, Outeiro TF & Pujol A 2018, ‘SIRT2 in age-related neurodegenerative disorders’, Aging (Albany NY), 10(3):295-296.

– Schlüter A, Sandoval J, Fourcade S, Díaz-Lagares A, Ruiz M, Casaccia P, Esteller M &  Pujol A 2018, ‘Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation’, Brain Pathol. 28(6):902-919.

– Ranea-Robles P,  Launay N, Ruiz M, Calingasan N, Dumont M, Naudi A, Beal F, Fourcade S & Pujol A 2018, ‘Aberrant regulation of the GSK-3 beta/NRF2 axis unveils a novel therapy for adrenoleukodystrophy’, Embo Mol Med, 10, 8, UNSP e8604.

– S Yagüe, M Veciana, C Casasnovas, M Ruiz, J Pedro, J Valls-Solé,  A Pujol 2018, ‘Evaluation of afferent pain pathways in adrenomyeloneuropathic patients’, Clinical Neurophysiology, 129(3):507-515.

– Rotroff DM, Pijut SS, Marvel SW, Jack JR, Havener TM, Pujol A, Schluter A, et al  2018, ‘Genetic variants in HSD17B3, SMAD3, and IPO11 impact circulating lipids in response to fenofibrate in individuals with type 2 diabetes, Clin Pharmacol Ther. 2103, 4, 712 – 721.

Selected research activities

Late Breaking Talk, Plenary. “Biallelic variants in degs1: novel disease with therapeutic hope”. European Society of Human Genetics, Milan, Italy, June 17-19th 2018.