Aurora Pujol

Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)

Life & Medical Sciences

After receiving her MD from the Autonomous University of Barcelona Medical School (Spain), Aurora Pujol moved to the laboratory of Applied Tumor Virology (Prof. Rommelaere) at the German Cancer Research Center (DKFZ), in Heidelberg, where she obtained her PhD in Molecular and Cellular Biology from the University of Heidelberg. From 1998 to 2001 she worked as postdoctoral researcher at the laboratory of Human Genetics of the IGBMC, Strasbourg, France, lead by Prof. Jean Louis Mandel, where she generated and characterized mouse models for a rare neurometabolic disorder, X-linked adrenoleukodystrophy (X-ALD). In 2002, she obtained a position as clinician in Medical Genetics at the Louis Pasteur University Hospital, and combined genetic diagnosis with a position as Junior Group Leader at the IGBMC to continue her research. In January 2005, she moved back to Barcelona as an ICREA Research Professor and funded the Neurometabolic Diseases Laboratory.

Research interests

Our lab is committed to finding a cure for a rare and fatal demyelinating, neurometabolic disorder called adrenoleukodystrophy. We are using mouse models for molecular dissection of neuropathogenesis leading to disease and for assaying therapeutic strategies, with a clear translational aim. We are focusing on oxidative stress and mitochondria depletion as early events on the pathogenic cascade. Moreover, by means of an integrative genomics approach, we are exploring the evolutionary origin of peroxisomes and their related metabolic routes. The derived knowledge might contribute to unravelling the role of this poorly studied organelle in ageing, neurodegenerative diseases, and in rare metabolic syndromes of yet unknown origin.

Selected publications

Pujol A 2016, ‘Novel Therapeutic Targets and Drug Candidates for Modifying Disease Progression in Adrenoleukodystrophy’, Endocr. Dev., 2016;30:147-60.

– Pardo L, Schlueter A, Valor LM, Barco A, Giralt M, Golbano A, Hidalgo J, Jia P, Zhao Z, Jove M, Portero-Otin M, Ruiz M, Gimenez-Llort L, Masgrau R, Pujol AGalea E 2016, ‘Targeted activation of CREB in reactive astrocytes is neuroprotective in focal acute cortical injury’, Glia, 64, 5, 853 – 874.

– Soehn AS, Rattay TW, Beck-Woedl S, Schaeferhoff K, Monk D, Doebler-Neumann M, Hoertnagel K, Schluter A, Ruiz M, Pujol A, Zuchner S, Riess O, Schule R, Bauer P & Schoels L 2016, ‘Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families’, Neurology, 87, 2, 186 – 191.

– Pàmpols T, Ramos FJ, Lapunzina P, Gozalo-Salellas I, Pérez-Jurado LA, Pujol A 2016, ‘A view on clinical genetics and genomics in Spain: of challenges and opportunities’, Mol. Genet. Genomic Med., 4(4):376-91

– Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Pujol A and 89 coauthors 2016,  ‘Guidelines for the use and interpretation of assays for monitoring autophagy‘, (3rd edition). Autophagy. 12(1):1-222.  PubMed PMID: 26799652;