1. First clinical guideline on Schaaf-Yang syndrome for professionals and families

    Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.

  2. CDF15 cytokine, a promising therapeutic target against type 2 diabetes

    A team led by Dr. Manuel Vázquez-Carrera, from the Institut de Recerca Sant Joan de Déu and professor Faculty of Pharmacy and Food Sciences and the Institute of Biomedicine (IBUB) of the UB, has conducted a review study on the Growth Differentiation Factor 15 (GDF15) -a protein expressed under physiological stress conditions- and its potential impact on the treatment for type 2 diabetes.

  3. Scientists at IRSJD and IRB Barcelona develop a study model for Ewing sarcoma in the Drosophila fly

    This novel model has come about from a close collaboration between the laboratories headed by Dr. Jaume Mora at Institut de Recerca Sant Joan de Déu (IRSJD) and SJD Barcelona Children’s Hospital, and Dr. Cayetano Gonzalez at the Institute for Research in Biomedicine (IRB Barcelona). The work has been published in the journal PNAS Nexus.

  4. Institut de Recerca Sant Joan de Déu participes in a project that facilitates access to personalised medicine

    Institut de Recerca Sant Joan de Déu and SJD Children’s Hospital is participating in the SEHOP-PENCIL project that aims to facilitate access to precision medicine for all children and adolescents with cancer in Spain, regardless of where they live.

  5. Share4Rare and CIBERER join forces for rare diseases research

    Share4Rare and the Spanish Network in Rare Disease Research (CIBERER) will collaborate to locate patients to promote clinical research initiatives.

  6. Gene therapy proved against Muscular Distrophy with the ALBA Synchrotron

    A study by the Institut de Recerca Sant Joan de Déu, ICFO, CIBERER and the ALBA Synchrotron has helped demonstrate that gene therapy can reverse the effects of the mutation that causes the symptoms of congenital muscular dystrophy in patient cells.

  7. Emotional abuse and stress are risk factors for suicidal behavior in people with first psychotic episodes

    Institut de Recerca Sant Joan de Déu study associates stress and emotional abuse in childhood with a greater risk of suicidal behavior in young people with a first psychotic episode.

  8. From the common cold virus to severe respiratory illness in children 

    Dr Cristian Launes and Dr Carmen Múñoz (IRSJD researchers) with Dr Daniel Penela-Sánchez and Dr Georgina Armero started a project in 2017 to understand the severity of rhinovirus and enterovirus infection in children.

  9. New tool to predict severity in Nonketotic Hyperglycinemia, a rare disease

    An international team led by Dr Àngels García Cazorla, a researcher at the Institut de Recerca Sant Joan de Déu and a pediatric neurologist at the SJD Barcelona Children’s Hospital, has presented a new approach to nonketotic hyperglycinemia that can predict the severity in affected children. The study was published in the journal Annals of Neurology.