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Aurora Pujol

Aurora Pujol

Institut d'Investigació Biomèdica de Bellvitge

Life & Medical Sciences

Dr Aurora Pujol received her MD from the Autonomous University of Barcelona and her PhD in Cell and Molecular Biology from 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 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 Certification in Laboratory Genomics by the American Board ABMGG, 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, and at the European Society of Human Genetics scientific committee. 

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 redox, metabolic and mitochondrial homeostasis. Tailored preclinical tests yielded four licensed patents, four phase II/III clinical trials, and four Orphan Drug Designations. A second research line applies clinical and functional genomics for solving undiagnosed  cases and for novel disease and gene discovery.  We are modeling metabolic brain disease using iPS-derived brain organoids to advance the knowledge on pathobiology while identifying therapeutic strategies to serve our patients.

Selected publications

– Andrés-Benito P et al. 2021, ‘Lipid alterations in human frontal cortex in ALS-FTLD-TDP43 proteinopathy spectrum are partly related to peroxisome impairment.‘ Neuropathol Appl Neurobiol. 47(4):544-563

– Rodriguez-Palmero A.[] Pujol A, Tumer Z. 2021, ‘DLG4-related synaptopathy: a new rare brain disorder’, Genetics In Medicine, .

– Baldassarri M et al. 2021, ‘Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males’, Ebiomedicine, 65, 103246.

– Troya J. [] Pujol A. 2021, ‘Neutralizing Autoantibodies to Type I IFNs in >10% of Patients with Severe COVID-19 Pneumonia Hospitalized in Madrid, Spain’, Journal Of Clinical Immunology, .

– Kour S et al. 2021, ‘Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder’, Nature Commun 12, 1, 2558.

– Bastard P et al. 2021, ‘Autoantibodies neutralizing type I IFNs are present in similar to 4% of uninfected individuals over 70 years old and account for similar to 20% of COVID-19 deaths’, Science Immun, 6, 62, eabl4340.

– Ranea-Robles P……… Pujol A. 2021, ‘Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model’, Neuropathology And Applied Neurobiology, .

– Andreakos E et al. 2021, ‘A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection’, Nature Immun,

– Hochberg I et al. 2021, ‘Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations’, American Journal Of Human Genetics, 108, 11, 2195 – 2204.

– Castro de Moura M [] Pujol A, Esteller M. 2021. ‘Epigenome-wide association study of COVID-19 severity with respiratory failure‘. EBioMedicine. vol. 66:103339

– Verdura E.[] Pujol A. 2021. ‘Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy‘. Brain vol.144, nº 9, 2659-2669

ICREA Memoir 2021