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METABOLOMICS AND METALLOMICS FOR
THE DEVELOPMENT OF BIOMARKERS
PROFILES
Prof. Pilar Bermejo Barrera
Trace Elements,Spectroscopy and Speciation Group,
Faculty of Chemistry, University Santiago de Compostela
Dr.José Angel Cocho de Juan
Metabolic Disorders Group, Health Reseach Institute of
Santiago de Compostela, IDIS
METABOLIC DISORDERS GROUP (IDIS)
• Diagnosis and Treatment of Metabolic Diseases Unit
(Pediatrics Dept., University Hospital of Santiago)
• 400 patients with 50 different metabolic diseases
• Staff: 6 Pediatrics Doctors, 5 Clinical Biochemist
Specialists, 1PhD, and 3 PhD Students
• Metabolic Reference Laboratory
• Biochemical and genetic diagnostic, laboratory
monitoring of all patient and newborn screening
METABOLIC DISORDERS GROUP (IDIS)
• Metabolomic Profiles of biochemical markers by
MS/MS and NMR: amino acids, acylcarnitines , acylglycines,
organic acids, sugars, purines, pyrimidines, lysosomal enzymes,etc.
• Gene Panels for diagnostic support in pediatrics by
NGS
Disease groups: Hypoglycemia, glicosilation defects, defects of
intermediary metabolism, mitochondrial respiratory chain, complex
molecules, leukodystrophies, myopathies, hypermobility, monogenic
diabetes, etc.
• Experience in Newborn Screening of metabolic
disorders
• Work with dried blood and urine samples
GETEE GROUP (USC)
• Speciation of Trace Elements (HPLC-ICP-MS)
• Characterization of biomolecules associated to Trace
Elements (Metallomics and Metalloproteomics)
(HPLC-ICP-MS/ESI-MS, MALDI-MS)
• Biometals and Metalloproteins profiles
• Quantification of proteins by ICP-MS through S and P
determinations
• Bioavailability studies of trace elements using in
vitro digestion methods
Evolution of the Speciation Concept
Study of the metallome, interactions, functional
connections of metal ions and other metal species
with genes, proteins, metabolites, and other
biomolecules in biological systems
Metallomics: Guidelines for terminology and critical evaluation of
analytical chemistry approaches (IUPAC Technical Report), Pure
and Applied Chemistry, 82(2),493-504,2010
Metallomics:
Model of a biological system
and related -omics sciences
Our proposal
Offer
Partnership
Integration of the different –omics sciences to develop
Biomarkers profiles
Analytical methodology to perform Metallomic,
Metalloproteomics, Metabolomic and Next Generation
Sequencing
Integration in research projects involved in the use of new
Metallomics, Metabolomics, and NGS methodologies for
the development of Biomarkers for human health in the
H2020 programme
THANKS FOR YOUR ATTENTION
Contact:
Pilar Bermejo Barrera
pilar.bermejo@usc.es
José Angel Cocho de Juan
cochoja@yahoo.es

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Pilar Bermejo / Metabolomics and metalomics for the development of biomarkers profiles

  • 1. METABOLOMICS AND METALLOMICS FOR THE DEVELOPMENT OF BIOMARKERS PROFILES Prof. Pilar Bermejo Barrera Trace Elements,Spectroscopy and Speciation Group, Faculty of Chemistry, University Santiago de Compostela Dr.José Angel Cocho de Juan Metabolic Disorders Group, Health Reseach Institute of Santiago de Compostela, IDIS
  • 2. METABOLIC DISORDERS GROUP (IDIS) • Diagnosis and Treatment of Metabolic Diseases Unit (Pediatrics Dept., University Hospital of Santiago) • 400 patients with 50 different metabolic diseases • Staff: 6 Pediatrics Doctors, 5 Clinical Biochemist Specialists, 1PhD, and 3 PhD Students • Metabolic Reference Laboratory • Biochemical and genetic diagnostic, laboratory monitoring of all patient and newborn screening
  • 3. METABOLIC DISORDERS GROUP (IDIS) • Metabolomic Profiles of biochemical markers by MS/MS and NMR: amino acids, acylcarnitines , acylglycines, organic acids, sugars, purines, pyrimidines, lysosomal enzymes,etc. • Gene Panels for diagnostic support in pediatrics by NGS Disease groups: Hypoglycemia, glicosilation defects, defects of intermediary metabolism, mitochondrial respiratory chain, complex molecules, leukodystrophies, myopathies, hypermobility, monogenic diabetes, etc. • Experience in Newborn Screening of metabolic disorders • Work with dried blood and urine samples
  • 4. GETEE GROUP (USC) • Speciation of Trace Elements (HPLC-ICP-MS) • Characterization of biomolecules associated to Trace Elements (Metallomics and Metalloproteomics) (HPLC-ICP-MS/ESI-MS, MALDI-MS) • Biometals and Metalloproteins profiles • Quantification of proteins by ICP-MS through S and P determinations • Bioavailability studies of trace elements using in vitro digestion methods
  • 5. Evolution of the Speciation Concept
  • 6. Study of the metallome, interactions, functional connections of metal ions and other metal species with genes, proteins, metabolites, and other biomolecules in biological systems Metallomics: Guidelines for terminology and critical evaluation of analytical chemistry approaches (IUPAC Technical Report), Pure and Applied Chemistry, 82(2),493-504,2010 Metallomics:
  • 7. Model of a biological system and related -omics sciences
  • 8.
  • 9. Our proposal Offer Partnership Integration of the different –omics sciences to develop Biomarkers profiles Analytical methodology to perform Metallomic, Metalloproteomics, Metabolomic and Next Generation Sequencing Integration in research projects involved in the use of new Metallomics, Metabolomics, and NGS methodologies for the development of Biomarkers for human health in the H2020 programme
  • 10. THANKS FOR YOUR ATTENTION Contact: Pilar Bermejo Barrera pilar.bermejo@usc.es José Angel Cocho de Juan cochoja@yahoo.es