Research Precision Medicine in Rare Diseases

Metabolomics and biochemical genetics

Research Program

Precision Medicine in Rare Diseases

Leaders

Where we are

SJD Barcelona Children’s Hospital

How to reach us

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Our group conducts patient-oriented research, focusing primarily on clinical and biochemical phenotypes, on the molecular basis of inherited metabolic diseases (IMDs) and on therapeutic aspects. We also investigate the pathophysiology of some of these diseases in collaboration with other basic research groups.

Our group has been a member of the Centre for Biomedical Network Research on Rare Diseases (CIBERER) since 2007 and in 2000 we were recognised as a consolidated research group by AGAUR (Agency for Management of University and Research Grants) (Government of Catalonia, 2017 SGR 1308).

Research lines

  1. Phenylketonuria and other IMDs caused by simple molecules, focusing primarily on clinical, diagnostic and therapeutic aspects (Principal investigator: J. Campistol).
  2. Mitochondrial oxidative phosphorylation disorders and coenzyme Q10 deficiency with the aim of identifying new biomarkers and elucidating the molecular basis of mitochondrial diseases (Principal investigator: R. Artuch).
  3. The development and validation of biomarkers for the study of IMDs using targeted metabolomic strategies (Principal investigator: R. Artuch). This interdisciplinary research line offers support to other groups in paediatric neuroscience as well as other external groups.
  4. Congenital disorders of glycosylation (CDG), investigating phenotypes and therapeutic approaches in CDG syndromes (Principal investigator: M. Serrano). 

Scientific objectives

  1. To develop and validate metabolomic biomarkers for IMDs, both for the diagnosis and monitoring of the disease, as well as developing biosensors.
  2. To describe new clinical and biochemical phenotypes in IMDs and functionally validate new genotypes, mainly in the mitochondrial disease group.
  3. To conduct follow-up studies in patients with IMDs treated with different therapies.

Area/Field of expertise

The research carried out by our group forms part of the overall research into the clinical, biochemical, molecular and therapeutic aspects of IMDs. Our main focus of inquiry is the study of disorders of intermediary metabolism (simple molecules; amino acids and organic acids), defects in mitochondrial energy metabolism and CDG.

The group includes clinicians, biologists, chemists, molecular biologists and laboratory technicians who offer a holistic approach of the questions posed by IMD research. In addition to applying state-of-the-art clinical research methodologies (neurophysiology and imaging), our laboratory has extensive experience in targeted metabolomic studies in patients with IMDs. We have, for example, biochemically characterised 4,500 cerebrospinal fluid specimens from over 10 different countries over the past 15 years, consolidating our position as an international reference centre for the diagnosis of inherited neurometabolic diseases.

We have made remarkable progress in updating our facilities over the past two years with the acquisition of cutting-edge technology for metabolomic analysis (UHPLC-MS/MS and gas chromatography-mass spectrometry), complemented by more specific (HPLC with electrochemical and fluorescence detection, capillary electrophoresis and ICP-MS) and next-generation genomic procedures. We are therefore in a position to offer in-depth characterisation of many metabolites following the most rigorous quality controls as a duly certified ISO15189 laboratory (from the Spanish National Accreditation Body, ENAC). This prompted us to reconsider our laboratory work and develop a new conceptual model in which we apply the same strictly controlled techniques for IMD diagnosis/research in humans to the metabolomic phenotyping of cell and animal models.

Group members

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Projects

Project name:
Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso
Leader
Rafael Artuch Iriberri
Funding entities:
Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII)
Code
PI23/00006
Starting - finishing date:
2024 - 2026
Project name:
Contratos predoctorales de formación en investigación en salud_Beneficiari: Florencia Epifani
Leader
Mercedes Serrano Gimaré
Funding entities:
Instituto de Salud Carlos III (ISCIII)
Code
FI22/00218
Starting - finishing date:
2023 - 2026
Project name:
Innovative Medicines Initiative 2 Joint EU: Autism Innovative Medicine Studies – 2 – Trials’ —‘AIMS-2-TRIALS’
Leader
Mercedes Serrano Gimaré
Funding entities:
European Commission, King's College London
Code
777394
Starting - finishing date:
2023 - 2025
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Theses

  • Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10
    Author
    Paredes Fuentes, Abraham José
    Institution
    UNIVERSIDAD DE BARCELONA
    01/12/2022
  • Biomarcadores histopatológicos en las enfermedades mitocondriales en la edad pediátrica
    Author
    Jou Muñoz, Cristina
    Institution
    UNIVERSIDAD DE BARCELONA
    28/09/2022
  • Aplicació de noves tècniques de neuroimatge a l'avaluació pre-quirúrgica de l'epilèpsia: la combinació de la RM per tensor de difusió (DTI) i la PET-FDG, i la sostracció de la SPECT ictal amb la PET-FDG interictal co-registrada amb la RM (PISCOM)
    Author
    Aparicio Calvo, Javier
    Institution
    UNIVERSIDAD DE BARCELONA
    10/06/2022
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