At the United Leukodystrophy Foundation’s 2026 Scientific Symposium & Family Conference, ULF was honored to recognize Aurora Pujol, MD, PhD, FACMG with the 2026 Moser Service Award, presented in grateful appreciation for her outstanding service and commitment to the lives of people with leukodystrophy and their families.
Dr. Pujol is a physician-scientist and geneticist whose work has helped advance our understanding of rare neurometabolic diseases, leukodystrophies, and genomic medicine – from diagnosis to potential therapies.
As ICREA Professor and founder of the Neurometabolic Diseases Laboratory at IDIBELL in Barcelona, Dr. Pujol and her team have made significant contributions to the study of adrenoleukodystrophy (ALD) and other rare brain disorders. Her research integrates genomic and multiomic approaches to better understand disease mechanisms, identify biomarkers and therapeutic targets, and move discoveries toward clinical applications. Her team has identified 14 novel ultrarare diseases, helping to reveal important roles for lipid and energy metabolism in brain health.
Her work has also helped uncover new genetic causes of leukodystrophy. Among these discoveries was DEGS1-related disease, a rare disorder affecting the brain’s white matter. Through international collaboration and functional research, her team helped connect the genetic cause to the underlying biology and identify a potential path toward treatment research.
Behind every discovery are individuals and families searching for answers, better care, and hope. Dr. Pujol’s commitment to advancing precision medicine and improving disease management reflects the impact that research can have throughout the leukodystrophy community.
Please join us in congratulating Dr. Aurora Pujol on this well-deserved honor and thanking her for her dedication to the leukodystrophy community!