Pujol Onofre, Aurora
Life & Medical Sciences
Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)
Phone 932607137
Email apujol@idibell.cat
Department Malalties neurometabòliques
Address Hospital Duran i Reynals. 2a planta. Edifici Terapèutic Av. Granvia de l’Hospitalet, 199
Postal code 08908
City Hospitalet de Llobregat (Barcelona)
Keywords
Clinical Genomics
Integrative multiomics
Systems neuroscience
Rare disease
Leukodystrophies
Adrenoleukodystrophy
Disease Modeling
Short biography
Dr Aurora Pujol is a physician-scientist and geneticist known for her work in rare neurometabolic diseases, leukodystrophies and genomic medicine, from diagnosis to therapies. She received her MD from the Autonomous University of Barcelona and her PhD from the University of Heidelberg/DKFZ. She is board certified in Medical Genetics (University Louis Pasteur, France, 2002), and in Clinical and Laboratory Genetics and Genomics (NIH, Bethesda, USA, 2017). She became ICREA Professor and founded the Neurometabolic Diseases Laboratory in 2005 at IDIBELL, Barcelona. Her lab is a member of the Undiagnosed Diseases International Network of NIH (UDNI) and the European Reference Network for Rare Neuromuscular Diseases. She coordinates the Metabolic Disease Area at the Spanish Network of Rare Diseases CIBERER. Dr Pujol serves at prestigious Editorial and Scientific Boards such as the European Society of Human Genetics and the European Leukodystrophy Association.