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Two IRB Barcelona projects on rare diseases receive funding from the Fundación Ramon Areces

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In the framework of the XVI National Call for Scientific and Technical Research Funding 2011, in the Life Sciences Section.

Manuel Palacín will address lysinuric protein intolerance (LPI), one of the rarest aminoacidurias and the only one that causes death, with 200 cases cited in the literature, of which three were in Spain. LPI is caused by mutations in the y+LAT1 transporter. Manuel Palacín’s lab has developed an animal model of LPI and it seeks to resolve the atomic structures of a model of the defective transporter in LPI, in order to elucidate the pathological mechanisms behind the disease.

In addition, Joan J. Guinovart works with the hypothesis that glycogen accumulation is the root cause of Lafora disease and other glycogenoses that accopany neurodegeneration. Lafora disease is a rare type of epilepsy that affects adolescents and has no cure. With a project entitled “Modulation of the pathological accumulation of glycogen: therapeutic targets for the treatment of glycogenoses”, Guinovart and his team will study the mechanisms that regulate the synthesis and degradation of glycogen. The objective is to identify new therapeutic strategies for Lafora disease and pathologies associated with the accumulation of glycogen in neurons.

The Fundación Ramon Areces will assign 100,000 euros to each of these projects.

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Prof. Joan J. Guinovart project

Prof. Manuel Palacín project

Fundación Ramon Areces press release (PDF in Spanish)

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).