• Rare Horizons episode 2 focuses on people living without a diagnosis

    People need to name things. Naming is our way of creating some order in this chaotic world. Unfortunately, many people are not able to name their disease. In Europe, it takes an average of five years
  • An amino acid shows therapeutic potential in people with GRIN-related disorders

    A pioneering clinical trial led by Dr Àngels Garcia-Cazorla from the Sant Joan de Déu Research Institute · Sant Joan de Déu Hospital has demonstrated that oral administration of the amino acid L
  • A study uncovers the connection between mutations in the GEMIN5 gene and Coenzyme Q10 deficiency

    In science, things take time, but perseverance can eventually bear fruit. The results of this work, published in the European Journal of Human Genetics, began in 2004 with the study of a 12-year-old
  • Share4Rare will host a webinar on the 2024 research project call

    Share4Rare aims to enhance research on rare diseases through collaborative knowledge generation. The platform provides researchers with a secure infrastructure to conduct their investigations
  • A Spanish research team reveals the origin of second paediatric tumours

    A team of experts from the Sant Joan de Déu Research Institute and the IRB Barcelona has studied the cases of four children who have developed two different tumours to try to solve the origin of the
  • Rare Horizons, a new podcast focused on rare disease research

    Education stands as a key pillar of Share4Rare. Thus, we are constantly working to provide the rare disease community with tools and resources to better understand the various research dimensions of
  • 4th Share4Rare Call4Projects to drive rare disease patient-driven research studies

    Collaborative research into rare diseases stands as one of the cornerstones of Share4Rare. Year after year, we endeavour to foster the development of research projects in this field that focus on the
  • Únicas SJD building construction begins in Barcelona, dedicated to rare disease care and research

    The new building will rise 250 metres from the Sant Joan de Déu Hospital, situated between the municipalities of Barcelona and Esplugues de Llobregat (Barcelona province, Spain). Its main facade will
  • Ken To — Caregiver in a family impacted by Huntington’s disease

    As Ken To states, being part of a family affected by Huntington's disease is challenging. The disease may manifest at any stage of adulthood and, currently, it does not have a cure. “Growing up in a
  • Nerea González — Affected by a mitochondrial disease and a member of AEPMI

    Nerea González defines herself as a "Mito Warrior," a fighter who refuses to surrender to adversity. And she knows a lot about adversity. One of the conditions she suffers from is Coenzyme Q10
  • New project to enhance the use of photonics and artificial intelligence in disease diagnosis

    The BE-LIGHT project, funded by the Horizon Europe program of the European Union, aims to design novel instruments and clinical methods capable of obtaining images of tissues previously unattainable
  • Marta Farré — Mother of a boy with epidermolysis bullosa

    When Adrià was born, doctors noticed that he had severe wounds on his legs and feet. The gynaecologist who attended to them first mentioned the disease: epidermolysis bullosa (EB), a genetic condition