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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disease that affects cerebral white matter (myelin). A team of researchers led by the UB professor Raúl Estévez has discovered two mutations in GliaCAM, a gene of unknown function, which might be responsible for 25% of MLC cases. Albert Martínez, UB professor and former research associate at IRB Barcelona participated in the study, which has been published and selected as featured article in The American Journal of Human Genetics.
About IRB Barcelona
The Institute for Research in Biomedicine (IRB Barcelona) pursues a society free of disease. To this end, it conducts multidisciplinary research of excellence to cure cancer and other diseases linked to ageing. It establishes technology transfer agreements with the pharmaceutical industry and major hospitals to bring research results closer to society, and organises a range of science outreach activities to engage the public in an open dialogue. IRB Barcelona is an international centre that hosts 400 researchers and more than 30 nationalities. Recognised as a Severo Ochoa Centre of Excellence since 2011, IRB Barcelona is a CERCA centre and member of the Barcelona Institute of Science and Technology (BIST).
