Education

Nicky is a carer for six family members across three generations who have a diagnosis of myotonic dystrophy. Like many families, they had been living with the wide range of symptoms associated with

Some time ago we met Mónica, Izas's mum and president of the Spanish association of gliomatosis cerebri " Izas, la princesa guisante". Her story is an example of courage, struggle and dedication. This

Adult rare disease patients and their family members become experts in finding medical information, supporting research initiatives and leading patient organizations. For the most ultra-rare diseases

The first Neuromuscular Translational Summer School took place in July 2018 in Newcastle upon Tyne, UK. The Summer School was the result of a collaborative effort between TREAT-NMD and EURO-NMD to

Young and adult caregivers’ emotional and physical health are usually highly affected: anxiety, depression or feelings of isolation, lack of physical activity, unhealthy eating habits, etc. In this

This weekend the Share4Rare hackathon RareHacks took place in Barcelona. During these three days, over 45 data scientists, computer scientists and clinicians joined forces in response to the needs of

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

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

Research on rare diseases is often difficult to perform mainly because there are only a small number of cases to study, resulting in a vaguely representative statistical analysis of the data. For