Dr Aurora Pujol received her MD from the Autonomous University of Barcelona and her PhD at 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. In 2005, she became Director of the Neurometabolic Diseases Lab at IDIBELL/ICREA. She is also board certified in Clinical Genomics by the American Board of Genetics and Genomics 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, patients associations, the European Society of Human Genetics scientific committee, and is an international key opinion leader for brain white matter diseases and genomic medicine.
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 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
- Lee D, Le Pen J, Yatim A, (65 authors), Pujol A, Silverman RH, Zhang SY & Casanova JL 2023,"Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children", Science, Vol 379, Issue 6632.
- Planas-Serra L, Launay N, Goicoechea L, et al. 2023, 'Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity', Journal Of Clinical Investigation, 133, 10, e162957.
- Launay N, Ruiz M, Planas-Serra L, et al. 2023, 'RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia', Journal Of Clinical Investigation, 133, 14, e162836.
- Schlüter A, Vélez-Santamaría V, Verdura E, et al. 2023, 'ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization', Genome Medicine, 15, 1, 68 - 68.
- Lee, D et al. 2023, 'Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children', Science, 379 - 6632 - 554 - +