Department of Physiological Sciences II
Faculty of Medicine. Pavelló de Govern, Feixa Llarga, s/n
08907 L’Hospitalet de Llobregat
T: +34 93 4039781
Raúl Estévez, full professor in Physiology, is working at the Faculty of Medicine and Health Sciences in the University of Barcelona (UB)/Institute of Neuroscience and IDIBELL, belonging also to CIBERER, a network of Spanish groups working in rare diseases. He started to work in Megalencephalic Leukoencephalopathy with subcortical cysts (MLC) 20 years ago, contributing, in collaboration with many different groups, to improve the knowledge about the pathophysiology and MLC and to find new therapeutical strategies for MLC. During this time, he has achieved different milestones: A) Localization and expression of MLC1 protein, the first disease gene; B) Identification of GlialCAM as the second protein involved in MLC and its relationship with chloride channels; C) Generation and analyses of different animal models of the disease; D) The relationship of GlialCAM/MLC1 with signaling; E) The first structural studies using molecular modeling and finally, F) The first therapeutical studies using gene therapy (Neurotherapeutics 2020). In this last aspect, Estévez has recently obtained the designation as approved orphan designation by the European Medical Agency (EMA/OD/0000059436) for the treatment of MLC in September 2021. He is currently working to understand better the pathophysiology of MLC and to find new pharmacological treatments for MLC.