• Sant Joan de Déu Barcelona Children's Hospital Biobank for Research

    Biobanks are facilities that preserve biological resources that are essential for biomedical research. On the one hand, they collect, process, classify and store biological samples, as well as
  • Smart Tech: Improving the lives of millions living with a long-term disease

    Chronic diseases present a significant challenge to the European Union, costing over €700 billion annually and affecting one third of all adults. Furthermore, each year over 4 million people pass away
  • A functional study helps describe a new severe metabolic syndrome caused by Coenzyme A deficiency

    The Journal Inherited Metabolic Disease has published a study from the Spanish Network Research Centre for Rare Diseases ( CIBERER) describing a new inborn error of metabolism generated by a failure
  • Spanish study finds two new biomarkers for amyotrophic lateral sclerosis (ALS)

    According to a study by the CIBERER (Spanish Network Centre for Biomedical Rare Disease Research) published in the journal Neurology Neuroimmunology and Neuroinflammation, people with amyotrophic
  • Biomarkers as key players in drug development

    A biological marker or biomarker is a molecule or parameter that can measure a state of health or disease. It can be used to detect a disease, a physiological change, a response to a treatment or a
  • “Platforms like Share4Rare are extremely important in sharing evidence-based information and raising awareness of rare diseases” — Ana Pudja, project manager at CLOSER

    Passionate about working for a purpose and committed to contributing to improvements of human health globally, Ana enjoys working in the fields of childhood cancer, cancer genetics and precision
  • The reconstruction of ancestral proteins from the CRISPR-Cas system opens up new possibilities for gene editing

    An international research team, led by Raúl Pérez Jiménez from the CIC nanoGUNE (San Sebastián-Donostia, Spain), has managed to reconstruct, through bioinformatics tools and for the first time, the
  • The map of diagnosis evolution of rare diseases in Spain

    A few weeks ago, the journal published a work by researchers from the Spanish Institute for Research on Rare Diseases (IIER) of the Carlos III Health Institute (ISCIIII), which presented data on the
  • A fragrance helps neutralise the smell caused by fish odour syndrome

    As unusual as it may seem, the collaboration between a paediatric hospital and a multinational perfume company can bear very good results. Paediatrician Beatriz Mínguez was covering a sick leave for a
  • Pulseras Candela: boosting childhood cancer research since 2013

    The Association Pulseras Candela was set in motion 7 years ago on the 8 th floor of Sant Joan de Déu Barcelona Children’s Hospital thanks to the unity, love and involvement of many families and
  • New point-of-care device to facilitate monitoring of hereditary and hepatic metabolic disorders

    The Sensors and Biosensors Group (GSB) of the UAB Department of Chemistry, with the collaboration of researchers Rafael Artuch and Xavier Rosell of the Sant Joan de Déu Research Institute, have
  • What are inflammatory myofibroblastic tumours?

    Inflammatory myofibroblastic tumours are more commonly referred to as IMTs. Their name comes after two different types of cells: “Myo” comes from the greek term “ Myos”, which means muscle, and