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In some countries, treatments for rare diseases are not available for the general population, so families often choose to emigrate to have access to adequate therapies. Unfortunately, there is very

Chorionic villi are part of the placenta. This tissue is found in an area of the placenta that is in contact with maternal blood, which makes it essential during pregnancy. If we want to perform

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

Chronic diseases present a significant challenge to the European Union, costing over €700 billion annually and affecting one third of all adults. Furthermore, each year over 4 million people pass away

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 in

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

Passionate about working for a purpose and committed to contributing to improvements of human health globally, Ana enjoys working in the fields of childhood cancer, cancer genetics and precision

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