Metabolic endocrinology

Where we are

SJD Barcelona Children's Hospital

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Our group conducts patient-centred research, focusing mainly on the longitudinal and prospective study of epigenetic, clinical and biochemical aspects of low birth weight for gestational age and adolescents with ovarian hyperandrogenism or polycystic ovary syndrome (PCOS). We also investigate the development of preventive and therapeutic strategies aimed at reducing or preventing comorbidities associated with these disorders. In collaboration with other clinical and basic IRSJD research groups, we also study the pathophysiological basis of low birth weight and PCOS.

In 2006, we joined the Centre for Biomedical Network Research on Diabetes and Associated Metabolic Diseases (CIBERDEM) and our group leader is the principal investigator of this CIBER. Since 2009, we have been a consolidated AGAUR research group (Government of Catalonia; 2018SGR1236).

Our group leader is also coordinator of the Paediatric and Adolescent Working Group of the European Society for Paediatric Endocrinology (ESPE) and coordinator of the Small for Gestational Age Patient Study Group of the Spanish Society of Paediatric Endocrinology (SEEP).

Project

The Fundació Sant Joan de Deú participates in the KPI002-PCOS project, which focuses on the development of a new product for the treatment of polycystic ovary syndrome in adolescents and young women, led by Kern Pharma, file RTC-2016-5671- 1, developed in collaboration with the Institut de Recerca de l’Hospital Santa Creu i Sant Pau, which is being co-financed by:

· The Ministry of Economy and Competitiveness, within the State Program for Research, Development and Innovation Oriented to the Challenges of Society, within the framework of the State Plan for Scientific and Technical Research and Innovation 2013-2016

· The European Union, charged to the ERDF fund, with the aim of "Promoting technological development, innovation and quality research".

Research lines

  1. The longitudinal study of genetic, epigenetic and biochemical mechanisms underlying endocrine-metabolic alterations associated with low birth weight, which include DNA methylation, microRNAs, microbiome, body composition, adipokines and brown adipose tissue.
  2. The development and subsequent marketing of new combinations of insulin  sensitisers and antiandrogens for the treatment of PCOS in adolescents, aimed at normalising the pathophysiological mechanisms responsible for the entity and therefore reduce the risk of subfertility and others comorbidities associated with PCOS.
  3. The development and validation of biomarkers for the early detection of low birth weight patients likely to develop associated comorbidities.

Scientific objectives

  1. To carry out longitudinal and prospective studies of the methylation pattern of genes and microRNAs in peripheral blood of patients with low birth weight compared with subjects with normal weight for gestational age, as well as differences in circulating exosome and exosomal proteome profiles.
  2. To develop and validate combinations of early longitudinal biomarkers of metabolic syndrome, early onset puberty and other pathologies associated with low birth weight.
  3. To develop a new combination of insulin sensitisers and an antiandrogen (SPIOMET) for the treatment of PCOS, conduct phase II-IV studies and submit the dossier to the EMA/FDA for approval and subsequent marketing.
  4. To describe and functionally validate epigenetic markers (microRNAs) in peripheral blood and adipose tissue associated with PCOS, predictive of comorbidities and/or the response to therapy.

Area/Field of expertise

The research carried out by our group forms part of the study of the epigenetic, clinical, biochemical, molecular and therapeutic aspects related to low birth weight and PCOS. Our main goal is to further our knowledge of the mechanisms that determine the development of these entities and the associated comorbidities in order to establish early preventive and therapeutic strategies.

Thanks to the continuous prospective follow-up of longitudinal cohorts with these two entities since 2006, we have made significant advances in the clinical and molecular knowledge in this area. Our group has expertise in the study of biochemical markers of adipose tissue (recently described adipokines, ELISA), genetic polymorphisms, expression and methylation of genes and microRNAs in peripheral blood and tissues, and exosome isolation (NanoDrop spectrophotometer plate reader, real-time PCR, etc.), as well as in determining the distribution of abdominal fat and carotid intima media thickness (CIMT) (high-resolution ultrasound).

Group members

Projects

Project name:
Nous coneixements sobre la patogènesi de la síndrome d'ovaripoliquístic mitjançant un model genètic: identificació de biomarcadors potencials per aldiagnòstic precoç en humans.
Leader
Lourdes Ibañez Toda
Funding entities:
Fundació La Marató de TV3
Code
202417/30
Starting - finishing date:
2024 - 2027
Project name:
Variaciones longitudinales del perfil de expresión de microRNAs exosomales en niños con bajo peso para la edad gestacional con y sin recuperación de peso y talla postnatal
Leader
Paula Casano Sancho, Marta Díaz Silva
Funding entities:
Casano Sancho, Paula, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
Code
PI22/01424
Starting - finishing date:
2023 - 2025
Project name:
Efectos del tratamiento con spiomet a mitad de dosis en niñas con pubertad adelantada y aceleración de la maduración ósea: estudio multicéntrico, aleatorizado y controlado con placebo
Leader
Lourdes Ibañez Toda
Funding entities:
Institut d'Investigació Biomèdica de Girona Dr. Josep Trueta
Code
ICI21/00005
Starting - finishing date:
2022 - 2025
More projects

Theses

  • Polycystic Ovary Syndrome in adolescent girls: therapeutics oriented to pathophysiology and new markers of efficiency
    Author
    García Beltran, Cristina
    Institution
    UNIVERSIDAD DE BARCELONA
    12/12/2024
  • Papel de la microbiota intestinal en el tratamiento del síndrome de Prader-Willi
    Author
    Amat Bou, Montserrat
    Institution
    UNIVERSIDAD DE BARCELONA
    20/04/2021
  • Estudio longitudinal de la composición corporal y del perfil endocrino-metabólico en niños sanos: influencia de la composición de ácidos grasos poliinsaturados maternos durante la gestación
    Author
    Sanz Marcos, Nuria Elvira
    Institution
    UNIVERSIDAD DE BARCELONA
    12/12/2019
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