• A patient-turned researcher advocates for transparent science in rare disease research

    Richard Rui Yang is a Hong Kong-based researcher affected by Bietti crystalline dystrophy (BCD), a rare retinal degeneration disease characterised by small sparkling crystalline deposits in the
  • 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
  • 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 in
  • 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
  • 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
  • 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 is gene therapy? Basic concepts and current state of research

    Gene therapy fixes genetic mutations that cause a pathology or the malfunction of a biological process by introducing a “correct” copy of the affected gene into our cells. We can achieve this in
  • First clinical guidelines for Schaaf-Yang syndrome addressed to professionals and families

    A research group led by the Sant Joan de Déu Research Institute (IRSJD) has published the first clinical guidelines dedicated to Schaaf-Yang syndrome (SYS), an ultra-rare disease that develops due to
  • How are genetic diseases inherited II: autosomal recessive inheritance

    Some diseases are recessively inherited. This means that a person has to inherit two mutated copies of the same gene (one mutated copy from each parent) to develop the disease. If a person inherits a