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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

One of the main challenges when researching rare diseases is there is not enough available information about how the condition affects patients. This is mainly because there are not enough patients

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

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