Pujol Onofre, Aurora
Research Professor
Life & Medical Sciences
Institucio Catalana de Recerca i Estudis Avancats
Spain
Biography
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 Interest
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.
Publications
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Webster R, Cho MT, Retterer K, Millan F, Nowak C, Douglas J, Ahmad A, Raymond GV, Johnson MR, Pujol A*, Begtrup A, McKnight D, Devinsky O, Chung WK 2017, 'De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females', Clin Genet. 91, 5, 756 - 763.
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Launay N, Ruiz M, Grau L, Ortega FJ, Ilieva EV, MartÃnez JJ, Galea E, Ferrer I, Knecht E, Pujol A & Fourcade S. 2017, 'Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy'. Acta Neuropathol. 133(2):283-301.
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Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A 2017, 'Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis', Am J Hum Genet., 100(1):105-116.
