Pujol Onofre, Aurora
Life & Medical Sciences
Institut d'Investigació Biomèdica de Bellvitge (IDIBELL)
Phone 932607137
Email apujol@idibell.cat
Department Malalties neurometabòliques
Keywords
Clinical Genomics
Integrative multiomics
Systems neuroscience
Rare disease
Leukodystrophies
Adrenoleukodystrophy
Disease Modeling
Short biography
Dr Aurora Pujol received her MD from the Autonomous University of Barcelona and her PhD at 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. In 2005, she became Director of the Neurometabolic Diseases Lab at IDIBELL/ICREA. She is also board certified in Clinical Genomics by the American Board of Genetics and Genomics 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, patients associations, the European Society of Human Genetics scientific committee, and is an international key opinion leader for brain white matter diseases and genomic medicine.