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INHERITED METABOLIC MEDICINE
Consisting of 12 research groups from different fields, including clinical genetics, molecular genetics and molecular and cell physiology .
Rare Diseases Studied
• Inherited metabolic diseases: lysosomal diseases, organic acidemias, glycosylation defects, peroxisomal diseases .
Objectives: To study RDs having the fundamental aspect of altering homeostasis caused by mutations in genes relating to intermediary metabolism . The programme specifically seeks to define the genetic cause and the physiopathology of these pathologies affecting biomolecule synthesis, metabolism, transport and storage . They are generally serious diseases involving multiple organs and in many cases reducing the life expectancy and quality of life of patients . Based on the definition and in depth knowledge about these clinical phenotypes, in addition to evaluating the clinical response to treatments available today, the programme is working on Innovative Therapies, such as the use of chaperones to aid in enzyme functionality .
Groups forming the RP:
• Scientific Coordinator: Dra . Antonia Ribes, U737 • Dr . Rafael Artuch, U703 • Dr . Daniel Grinberg, U720 • Dr . Virginia Nunes, U730
• Dr . Manuel Palacín, U731 • Dr . Vicente Rubio Zamora, U739 • Dr . Eduardo Salido, U740 • Dr . Francisca Sánchez Jiménez, U741 • Dr . Belén Pérez González, U746 • Dr . Raúl Estévez Povedano, U750 • Dr . Pilar Giraldo Castellano, U752 • Dr . Aurora Pujol Onofre, U759 • Mónica Bescós, RP Scientific Manager
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CIBERER » Annual report 2014