Dr Aurora Pujol is a physician-scientist and geneticist known for her work in rare neurometabolic diseases, leukodystrophies and genomic medicine, from diagnosis to therapies. She received her MD from the Autonomous University of Barcelona and her PhD from the University of Heidelberg/DKFZ. She is board certified in Medical Genetics (University Louis Pasteur, France, 2002), and in Clinical and Laboratory Genetics and Genomics (NIH, Bethesda, USA, 2017). She became ICREA Professor and founded the Neurometabolic Diseases Laboratory in 2005 at IDIBELL, Barcelona. Her lab is a member of the Undiagnosed Diseases International Network of NIH (UDNI) and the European Reference Network for Rare Neuromuscular Diseases. She coordinates the Metabolic Disease Area at the Spanish Network of Rare Diseases CIBERER. Dr Pujol serves at prestigious Editorial and Scientific Boards such as the European Society of Human Genetics and the European Leukodystrophy Association.
Research interests
Our mission is to improve disease management of rare brain disorders, from improving genomic diagnosis to uncovering 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 the control of redox, metabolic and mitochondrial homeostasis. Preclinical tests using mouse models for ALD yielded four licensed patents, four phase II/III clinical trials, and four Orphan Drug Designations. Currently, a phase II-III against placebo clinical trial is funded by the Spanish National Institutes of Health. A second research line applies clinical and functional genomics, including development of computational algorithms, for solving undiagnosed cases of brain rare disorders and expanding scientific knowledge by discovering novel genetic causes of brain malfunction.
Selected publications
Nava, C et al. 2025, '- Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption', Nature genetics, 57 - 6 - - .
- Hu, LL et al. 2025, 'Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2', Nature communications, 16 - 1 - 10618.
- DeDiego, ML et al. 2025, 'OAS1 and OAS3 genetic variants enhance inflammatory responses to SARS-CoV-2', Iscience, 28 - 12 - 113966.
- Planas-Serra L et al 2025, 'Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder',The American Journal of Human Genetics, 112 - 11 - 2643 - 2664.
- Launay N, Espinosa-Alcantud M, Verdura E, Fernández-Eulate G, Ondaro J, Iruzubieta P, Marsal M, Schlüter A, Ruiz M, Fourcade S, Rodríguez-Palmero A, Zulaica M, Sistiaga A, Labayru G, Loza-Alvarez P, Vaquero A, Lopez de Munain A & Pujol A 2025, 'Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia, Aging Cell. 24 - 1 -e14355.