• A novel algorithm has been developed that increases the diagnosis rate of rare diseases

    One of the primary challenges faced by individuals affected by rare diseases is the timeliness of their diagnosis. Diagnosing such patients often tends to be extended in time, leading to a delay in
  • A new rare immune system disorder attributed to a mutation in the DOCK11 gene has been discovered

    The University Hospital Virgen del Rocío in Seville and the Sant Joan de Déu Barcelona Children's Hospital · Sant Joan de Déu Research Institute have collaborated on international research that
  • 3rd Share4Rare open call for patient-driven research projects

    Research in rare diseases faces significant challenges due to the limited number of patients and geographical and linguistic barriers. In light of this, Share4Rare has made it a priority to foster the
  • What happens in a Genetics laboratory? (Part II)

    When there is suspicion of a genetic disease caused by a mutation in a specific gene, the physician will request a diagnostic test that involves analysing that particular gene in a molecular genetics
  • Study identifies genetic causes of different developmental disorders in 5,500 paediatric patients

    As explained in an article published in the New England Journal of Medicine, the research group delved into an extensive analysis of the genomes of over 13,500 families from the United Kingdom and
  • A biobank with paediatric tumour samples, essential for research

    Paediatric cancer, also known as developmental cancer, encompasses a group of rare diseases with low prevalence. Recognising the need for specialised care, the Sant Joan de Déu Barcelona Children's
  • What happens in a Genetics laboratory? (Part I)

    Mutations refer to changes in our genes or chromosomes. They are relatively common, and in fact, all of us carry genetic mutations. The impact of a mutation can vary, ranging from beneficial to
  • Model to investigate childhood Parkinsonism created from patient cells

    To investigate rare diseases, it is essential to create models that faithfully reproduce all their characteristics. These models can be animal (mice, fish, flies, etc.), computational (what we
  • Early treatment of BCKDK deficiency significantly improves its symptoms

    Branched-chain ketoacid dehydrogenase kinase deficiency, or BCKDK deficiency, is caused by a mutation in this enzyme. This mutation results in a lower production of biomolecules known as branched
  • 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