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
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
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
