Research

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

As unusual as it may seem, the collaboration between a paediatric hospital and a multinational perfume company can bear very good results. Paediatrician Beatriz Mínguez was covering a sick leave for a

The Sensors and Biosensors Group (GSB) of the UAB Department of Chemistry, with the collaboration of researchers Rafael Artuch and Xavier Rosell of the Sant Joan de Déu Research Institute, have

Gene therapy fixes genetic mutations that cause a pathology or the malfunction of a biological process by introducing a “ correct ” copy of the affected gene into our cells . We can achieve this in

A research group led by the Sant Joan de Déu Research Institute (IRSJD) has published the first clinical guidelines dedicated to Schaaf-Yang syndrome (SYS), an ultra-rare disease that develops due to

Some diseases are recessively inherited. This means that a person has to inherit two mutated copies of the same gene (one mutated copy from each parent) to develop the disease. If a person inherits a

Some diseases are inherited in a family in a dominant way. This means that a child may inherit a normal copy of a gene and a mutated copy, and yet the latter will dominate or invalidate the working

Within neuromuscular diseases, there is a broad group of low prevalence disorders known as congenital muscular dystrophies, which shown both clinical and genetic diversity. Symptoms usually appear at