• 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
  • New mechanisms causing blindness in mouse models discovered

    A multidisciplinary research team, under the leadership of geneticist Gemma Marfany, has recently published an article in the journal Redox Biology. Their study, conducted using a mouse model, reveals
  • Let’s update the definition of rare diseases

    A new paper published in Nature Reviews by IRDiRC Therapies Scientific Committee (TSC) members explores the different definitions of rare diseases and discusses how a broader consensus view can help
  • 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
  • Same symptoms: Same treatment? Same response?

    Due to the existence of a large number of rare diseases (ranging from 6,000 to 8,000 according to various sources), it is common for many of them to exhibit similar symptomatology. This circumstance
  • 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