• 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 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