• 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 8th floor of Sant Joan de Déu Barcelona Children’s Hospital thanks to the unity, love and involvement of many families and friends
  • 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
  • What is X-linked recessive inheritance?

    The X chromosome contains many genes that are important for growth and development. The Y chromosome is quite smaller and contains fewer genes. Females have two copies of the X chromosome (XX), thus
  • 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
  • Czech Republic presents a Call to Action on rare diseases at the Expert Conference

    Several European politicians and technicians attended this conference where the Czech government committed to push on a European action plan on rare diseases, presenting a Call to Action also endorsed
  • How online education can help children with rare diseases

    The number of European Union citizens living with rare diseases is estimated to be around 30 million, according to Eurordis Rare Diseases Europe. In fact, 1 in 17 people will be affected by a rare
  • Pere Cardona, Spanish Association of Stiff Person Syndrome: "Being able to talk and be close to someone who is going through the same thing can really save you"

    Isabel worked at a supermarket in Calella (Barcelona). 10 years ago, when she was getting ready to go to work, she noticed how her right leg would not follow the orders she was sending from her brain
  • 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