Dr. Elena Muiño Acuña holds a medical degree from the University of Santiago de Compostela (2009) and is a specialist in Neurology from Hospital del Mar (Barcelona). During her residency, she completed a fellowship at the renowned Lariboisière Hospital in Paris, a leading French reference center for rare cerebrovascular diseases, working with the team that identified the NOTCH3 gene as the cause of CADASIL.
She holds a Master’s degree in Bioinformatics and Biostatistics and earned her PhD in Medicine in 2020. She currently coordinates the CADASIL research line within the Stroke Pharmacogenomics and Genetics group at the Institut de Recerca Sant Pau. The main goal is to identify prognostic biomarkers and therapeutic targets to develop treatments that improve patients’ quality of life.
At the Memory Unit of Hospital de la Santa Creu i Sant Pau, she leads the multidisciplinary clinic for genetic small vessel brain diseases, such as CADASIL. This clinic is part of the CSUR (Reference Centers, Services, and Units) for rare diseases in adults presenting with cognitive impairment.
She serves as the reference neurologist for the CADASIL Spain Association, actively participating in educational events and awareness activities. Additionally, she is the secretary of the Neurogenetics and Rare Diseases Study Group of the Spanish Society of Neurology (SEN).
She leads national and international projects on CADASIL, with her work aimed at improving the quality of life for people affected by small vessel brain disease—the second most common cause of dementia after Alzheimer’s disease.
