Presentación    
RESEARCH AND DIAGNOSIS OF INHERITED METABOLIC DISEASES
Composition
Name
Position
Institution
María Belén Pérez González
Profesora Titular
Universidad Autónoma de Madrid. CBM "Severo Ochoa"
Patricia Alcaide Alonso
Investigadora Postdoctoral
CEDEM
Sandra Dolores Arduim Brasil
Investigadora Postdoctoral
CBM "Severo Ochoa"
Margarita Castro Reguera
Investigadora Predoctoral
CEDEM
Magdalena de Ugarte Pérez
Directora del CEDEM
CEDEM
María Jesús Ecay Crespo
Técnico de Laboratorio
CIBERER
Isaac Ferrer López
Técnico de Laboratorio
CEDEM
María Alejandra Gámez Abascal
Investigadora Senior (Contrato Ramón y Cajal)
CBM "Severo Ochoa"
Fernando García Muñoz
Técnico de Laboratorio
CEDEM
Ana Jorge Finnigan
Investigadora Postdoctoral
CBM "Severo Ochoa"
Fátima Leal Pérez
Técnico de Laboratorio
CIBERER
Celia Medrano Rodríguez
Investigadora Predoctoral
CEDEM
María Begoña Merinero Cortés
Investigadora Senior
CEDEM
Rosa María Navarrete López de Soria
Técnico de Laboratorio
CIBERER
Celia María Lourdes Pérez-Cerdá Silvestre
Investigadora Senior
CEDEM
Isabel Reina Alba
Secretaria
CEDEM
Eva María Richard Rodríguez
Profesora Titular
Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
María Pilar Rodríguez Pombo
Profesora Titular
Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
María Lourdes Ruiz Desviat
Profesora Titular
Universidad Autónoma de Madrid.
CBM "Severo Ochoa"
Pedro Ruiz Sala
Investigador Postdoctoral
CEDEM
María Paloma Sanz Rebollo
Técnico de Laboratorio
CEDEM
Ana Isabel Vega Pajares
Investigadora Postdoctoral
CEDEM
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.