• 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
  • 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