• 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
  • An educational guide to building your online patient registry

    One of the main challenges when researching rare diseases is there is not enough available information about how the condition affects patients. This is mainly because there are not enough patients
  • 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
  • Health emigration in rare diseases: what do we know?

    In some countries, treatments for rare diseases are not available for the general population, so families often choose to emigrate to have access to adequate therapies. Unfortunately, there is very
  • Chorionic villi analysis to detect genetic abnormalities

    Chorionic villi are part of the placenta. This tissue is found in an area of the placenta that is in contact with maternal blood, which makes it essential during pregnancy. If we want to perform
  • 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
  • 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 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