Dr. Aurora Pujol, MD, PhD
ICREA Research Professor & Head of Neurometabolic Diseases Laboratory
Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain
Coordinator of the Metabolic Disease Area, Spanish Network of Rare Diseases (CIBERER)
Dr. Aurora Pujol is a distinguished physician-scientist and geneticist widely recognized for her pioneering work in rare neurometabolic diseases, leukodystrophies, and genomic medicine, spanning the entire translational spectrum from diagnostics to therapeutics.
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).
In 2005, she became an ICREA Research Professor and founded the Neurometabolic Diseases Laboratory at the Bellvitge Biomedical Research Institute (IDIBELL) in Barcelona. Under her leadership, the laboratory has become a key player in global genetics research. Her lab is an active member of the Undiagnosed Diseases International Network of the NIH (UDNI) and the European Reference Network for Rare Neuromuscular Diseases.
Dr. Pujol coordinates the Metabolic Disease Area at the Spanish Network of Rare Diseases CIBERER. She also serves on several prestigious editorial and scientific boards, including the European Society of Human Genetics and the European Leukodystrophy Association, contributing significantly to advancements in rare diseases worldwide.