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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

Because of the low index of metastasis in inflammatory myofibroblastic tumours (IMTs), surgery is normally the preferred and best option. The surgical resection of the tumour can be definite and

Inflammatory myofibroblastic tumors are more commonly referred to as IMTs. Their name comes after two different types of cells: “Myo” comes from the greek term “Myos”, which means muscle, and

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)

Genetic origin of pNETs As it seems, there are several risk factors that may make a child or adolescent more likely to develop a neuroendocrine pancreatic tumor or pNET. These risk factors are

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

What is in it This practical kit shares best practices and tools that advocates have used to support innovation and offers practical advice on how to make a difference for rare disease patients. With