Research

Ana comenzó a tener problemas de salud de un día para otro. Al principio le aparecieron lesiones cutáneas en codos y rodillas que se confundieron por dermatitis atópica, pero con el tiempo los

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

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

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

Mutations refer to changes in our genes or chromosomes. They are relatively common, and in fact, all of us carry genetic mutations. The impact of a mutation can vary, ranging from beneficial to

To investigate rare diseases, it is essential to create models that faithfully reproduce all their characteristics. These models can be animal (mice, fish, flies, etc.), computational (what we

Branched-chain ketoacid dehydrogenase kinase deficiency, or BCKDK deficiency, is caused by a mutation in this enzyme. This mutation results in a lower production of biomolecules known as branched