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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

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

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

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

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

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

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

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

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

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

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

Paediatric cancer, also known as developmental cancer, encompasses a group of rare diseases with low prevalence. Recognising the need for specialised care, the Sant Joan de Déu Barcelona Children's