Did we need to reinvent the wheel? Why Share4Rare adopted a layered approach to user interaction
It was one year ago, in the summer of 2018, when I attended my first meeting of the Consortium of the Share4Rare project. The project had been going on for a while and the foundations were laid, butLluís Montoliu: "Patients have taught me everything I know"
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 biomedicalSafe motherhood in rare disease
"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 isIntrinsic motivation with a pinch of salt: the conceptualization of badges in Share4Rare
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 understandingMarkel’s story: the uncertainty of living without a diagnosis
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 youngerShare4Rare: a unique community of patients that you would never have imagined
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 — andRareHacks: open registration!
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 interpretationWhat causes myotonic dystrophy type 1?
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