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Composition
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Name
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Position
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Institution
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Profesora Titular
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Universidad Autónoma de Madrid. CBM "Severo Ochoa"
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Patricia Alcaide Alonso
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Investigadora Postdoctoral
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CEDEM
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Margarita Castro Reguera
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Investigadora Predoctoral
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CEDEM
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Magdalena de Ugarte Pérez
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Directora del CEDEM
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CEDEM
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Isaac Ferrer López
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Técnico de Laboratorio
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CEDEM
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María Alejandra Gámez Abascal
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Investigadora Senior (Contrato Ramón y Cajal)
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CBM "Severo Ochoa"
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Fernando García Muñoz
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Técnico de Laboratorio
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CEDEM
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Fátima Leal Pérez
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Técnico de Laboratorio
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CIBERER
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Rosa María Navarrete López de Soria
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Técnico de Laboratorio
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CIBERER
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Eva María Richard Rodríguez
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Profesora Titular
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Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
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María Pilar Rodríguez Pombo
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Profesora Titular
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Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
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María Lourdes Ruiz Desviat
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Profesora Titular
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Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
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Pedro Ruiz Sala
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Investigador Postdoctoral
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CEDEM
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Strategic Objective
• Development of genomic and metabolomic techniques aimed at improving the diagnosis of hereditary metabolic diseases.
• Study of mitochondrial dysfunction and oxidative stress as a modifier of the clinical phenotype and as a potential therapeutic target in organic acidurias.
• Development of animal and cellular models.
• Registry of patients with hereditary metabolic diseases.
Research Lines
• Improved diagnosis of congenital defects of glycosylation and mitochondrial defects through the application of genomic techniques (RNAseq and DNAseq of exoma and genome) and metabolomics.
• Identification of intronic mutations by the capture of the PAH and OTC gene. Functional validation in cellular splicing systems.
• Development of antisense therapy and pharmacological chaperones as therapeutic approaches transverse and applicable to numerous EMH.
• Study of oxidative stress and evaluation of common signatures of neuropathogenicity and cardiotoxicity in congenital defects of glycosylation, organic acidemias and mitochondrial diseases.
• Evaluation of drugs aimed at the recovery of mitochondrial function and biogénesis.
• Search for biomarkers as predictors of HMS severity and as systems for the evaluation of pharmacological therapies.
• Characterization of pathophysiology in a murine model of propionic acidemia.
• Identification of dysregulated miRNA in propionic acidemia and characterization of its association with pathology and its usefulness as biomarkers.
• Generation of iPS of patients with organic academia and congenital defects of glycosylation and differentiation to hepatocytes, neural progenitors or cardiomyocytes.
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