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 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
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
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
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
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
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
