Research

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

Richard Rui Yang is a Hong Kong-based researcher affected by Bietti crystalline dystrophy (BCD) , a rare retinal degeneration disease characterised by small sparkling crystalline deposits in the

Biobanks are facilities that preserve biological resources that are essential for biomedical research. On the one hand, they collect, process, classify and store biological samples, as well as

The Journal Inherited Metabolic Disease has published a study from the Spanish Network Research Centre for Rare Diseases ( CIBERER) describing a new inborn error of metabolism generated by a failure

According to a study by the CIBERER (Spanish Network Centre for Biomedical Rare Disease Research) published in the journal Neurology Neuroimmunology and Neuroinflammation, people with amyotrophic

A biological marker or biomarker is a molecule or parameter that can measure a state of health or disease. It can be used to detect a disease, a physiological change, a response to a treatment or a

An international research team, led by Raúl Pérez Jiménez from the CIC nanoGUNE (San Sebastián-Donostia, Spain), has managed to reconstruct, through bioinformatics tools and for the first time, the

A few weeks ago, the journal published a work by researchers from the Spanish Institute for Research on Rare Diseases (IIER) of the Carlos III Health Institute (ISCIIII), which presented data on the