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Two IRB Barcelona projects receive funding from the Fundación Ramon Areces

By 28 de June de 2012November 18th, 2020No Comments
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 28.06.2012

Two IRB Barcelona projects receive funding from the Fundación Ramon Areces

Two IRB Barcelona projects on rare diseases receive funding from the Fundación Ramon Areces In the framework of the XVI National Call for Scientific and Technical Research Funding 2011, in the Life Sciences Section. The Fundación Ramon Areces will assign 100,000 euros to each of these projects.


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.