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 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. 

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

- Zhang Q, Bastard P, Pujol A (68 other coauthors), Su HC, Casanova J-L 2020, 'Inborn errors of type I IFN immunity in patients with life-threatening COVID-19', Science, 370, 6515, 422 - +.  

- Pant DC, Aguilera-Albesa S, Pujol A 2020, 'Ceramide signalling in inherited and multifactorial brain metabolic diseases2. Neurobiol Dis. 143:105014.  

- Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan K, Waldrop M, Schrader R, Juusola J; Undiagnosed Diseases Network, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QKG, Schaaf CP, Meng L 2020, 'Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia'. Hum Mutat. 41(3):632-640.

- Vélez-Santamaría V, Verdura E, Macmurdo C, Planas-Serra L, Schlüter A, Casas J, Martínez JJ, Casasnovas C, Si Y, Thompson SS, Maroofian R, Pujol A 2020, 'Expanding the Clinical and Genetic Spectrum of PCYT2-related Disorders'. Brain. 143(9):e76.

- García-Cazorla À, Verdura E, Juliá-Palacios N, et al. 2020, 'Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome'. Acta Neuropathol. 140(6):971-975.

- Verdura E, Schlüter A, Fernandez-Eulate G, Ramos-Martin R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, Lopez de Munain A, Pujol A 2020, 'A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases', Ann Clin Trans Neur, 7, 1, 105-111.

- Bastard P et al. 2020,  'Auto-antibodies against type I IFNs in patients with life-threatening COVID-19', Science. 370(6515):eabd4585.    

- Verdura E, Fons C, Schlüter A, Ruiz M, Fourcade S, Casasnovas C, Castellano A & Pujol A 2020, "Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia", J Med Genet. 57(2):132-137.

- Mingirulli N, (40 more coauthors), Pujol A & Horvath R 2020, "Clinical presentation and proteomic signature of patients with TANGO2 mutations", J Inherit Metab Dis, 43(2):297-308.