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Lluís Montoliu is a pioneer in the introduction, use and dissemination of CRISPR technology in Spain. Author of more than a hundred scientific articles, he has been involved in the field of biomedical

"Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. Duchenne is caused by a mutation in the gene that encodes for dystrophin, a protein that is

If you have ever attended a talk on the topic of gamification, you will have noticed that a concept is on everyone’s lips: motivation. And rightly so: it is one of the cornerstones to understanding

Markel lives with his parents, María and Vicen, and his older sister Carlota in Urnieta, a small town near San Sebastián, Basque Country (Spain). He will become 13 in August, but he looks much younger

One of the greatest challenges that rare disease patients and families have to face is the feeling of loneliness. This emotion is present during the diagnostic process — which may last for years — and

Due to the low metastasis rate observed in inflammatory myofibroblastic tumours (IMTs), surgery typically stands out as the preferred and most effective option. Surgical resection of the tumour is

Skin melanoma in children is very rare: out of 1.1 million children under the age of 4, less than 1 will be diagnosed with melanoma. For children under the age of 10, the number of melanoma cases has

Infantile myofibromatosis (IM) is a rare benign soft tissue tumor, meaning it can grow wherever there is soft tissue – this includes many tissues in our body, the most prevalent areas are the skin and

The access of rare disease families to quality, curated information about a particular disease is difficult due to many factors, including data gathering, curation, quality or unbiased interpretation

Myotonic dystrophies are genetic disorders. They are systemic conditions, meaning they affect many systems in the body, not only the muscles. The genetic alteration that causes myotonic dystrophy is

For those of you unlucky enough not to know what Drupal is, let us introduce it. Drupal is an open-source system for content management which has a worldwide community with over 500,000 (very active)

Why do we tend to believe pseudoscience? We are at a time where many people are mistrustful of experts: in climate change, in politics, and to a certain degree in health care. Due to an expanding