• 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
  • Findings on mitochondrial dysfunction in Rett syndrome suggest a new therapeutic pathway

    In a recently published study in the Journal for Translational Medicine, a team from multiple centres, led by the Paediatric Neurometabolism Group at IRSJD · Sant Joan de Déu Barcelona Children's
  • Sant Joan de Déu Barcelona Children's Hospital and FEDER join forces to tackle rare diseases

    The new collaboration agreement between Barcelona's hospital and the Spanish umbrella organisation aims to drive knowledge-sharing, enhance coordination, and foster experiential exchange through
  • Victoria Castillo — Mother of a young man with arthrogryposis

    Arthrogryposis is not a specific disease, but a group of disorders with diverse symptoms, all of which ultimately impact the joints and muscles in the body. A diagnosis of arthrogryposis is given when
  • Advances in the comprehension of the physiological basis of collagen VI-related muscular dystrophy

    A new study published in Scientific Reports and led by Dr Cecilia Jiménez (IRSJD-CIBERER) provides, for the first time, a comprehensive analysis of the proteins (proteome) contained in the
  • What happens in a Genetics laboratory? (Part III)

    Identifying a genetic variant may be a straightforward process, but determining whether it is pathogenic – meaning it has adverse health implications – requires a profound understanding of the