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
Lorena Gallego Villar
Investigadora Predoctoral
CBM "Severo Ochoa"
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
Alfonso Oyarzabal Sanz
Investigador Predoctoral
CEDEM
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
Rocío Sánchez Alcudia
Investigadora Postdoctoral
CBM "Severo Ochoa"
María Paloma Sanz Rebollo
Técnico de Laboratorio
CEDEM
Ana Isabel Vega Pajares
Investigadora Postdoctoral
CEDEM
Patricia Yuste Checa
Investigadora Predoctoral
CBM "Severo Ochoa"
Strategic Objective
Our work is focused on the diagnosis and research of the molecular basis of various inherited metabolic diseases (IMD). The first step in this research involves the biochemical characterisation of the patients’ inherited defect using metabolomic technology (gas chromatographymass spectrometry GC-MS, tandem mass spectrometry MS-MS, etc.), enzymatic determinations, conventional molecular genetics and specialised genomic techniques such as MLPA, SNP-arrays and CGH-arrays. Currently, we are working on validation of gene panels for genetic diagnosis of metabolic disorders including hyperphenylalaninemias, aminoacidopathies, organic acidurias, fatty acid oxidation, glycogenosis and peroxisomal disorders by Next Generation Sequencing.
Similarly, we are working on gene and mutation identification on congenital disorders of glycosylation a highly heterogeneous disorder by candidate gene capture and by exome sequencing.
In the last five years, our research has focused on the elucidation of the molecular and cellular mechanisms that lead to cell and tissue disorders, and therefore, the particular phenotype of each of these pathologies, as the first step in the identification of potential drug targets and new therapeutic strategies. We have extensively analysed the effect of mutations on the splicing and folding processes of genes and proteins, respectively, and have described several new molecular targets for therapeutic intervention. The research has focused on: i) a gene-specific antisense RNA-based therapy as a new therapeutic strategy to treat splicing mutations, ii) analysis of the mitochondrial dysfunction in organic acidurias, iii) analysis of pharmacological chaperones to rescue misfolding mutations and iv) analysis of read-through drugs to rescue nonsense mutations.
Research Lines
• Research on therapies for genetic metabolic diseases. Research on pharmacological chaperones for treatment destabilizing missense mutations, research on read-through drugs for treatment of nonsense mutations and research on therapies for correction of mRNA, such as antisense therapy and transplicing
• Mitochondrial dysfunction in inherited metabolic diseases. Research on mithochondrial pathology and oxidative stress studies and reticulum stress in organic acidurias and congenital disorders of glycosylation. Research on therapeutic options based on antioxidants
• Genetic basis of inherited metabolic diseases. Mutation and gene identification using conventional genetics approaches such as Sanger sequencing and arrays and by next generation sequencing of candidate gene panels and exome sequencing
• Patient registries for inherited metabolic diseases