“Platforms like Share4Rare are extremely important in sharing evidence-based information and raising awareness of rare diseases” — Ana Pudja, project manager at CLOSER
Passionate about working for a purpose and committed to contributing to improvements of human health globally, Ana enjoys working in the fields of childhood cancer, cancer genetics and precisionThe reconstruction of ancestral proteins from the CRISPR-Cas system opens up new possibilities for gene editing
An international research team, led by Raúl Pérez Jiménez from the CIC nanoGUNE (San Sebastián-Donostia, Spain), has managed to reconstruct, through bioinformatics tools and for the first time, theA fragrance helps neutralise the smell caused by fish odour syndrome
As unusual as it may seem, the collaboration between a paediatric hospital and a multinational perfume company can bear very good results. Paediatrician Beatriz Mínguez was covering a sick leave for aPulseras Candela: boosting childhood cancer research since 2013
The Association Pulseras Candela was set in motion 7 years ago on the 8th floor of Sant Joan de Déu Barcelona Children’s Hospital thanks to the unity, love and involvement of many families and friendsNew point-of-care device to facilitate monitoring of hereditary and hepatic metabolic disorders
The Sensors and Biosensors Group (GSB) of the UAB Department of Chemistry, with the collaboration of researchers Rafael Artuch and Xavier Rosell of the Sant Joan de Déu Research Institute, haveWhat is gene therapy? Basic concepts and current state of research
Gene therapy fixes genetic mutations that cause a pathology or the malfunction of a biological process by introducing a “correct” copy of the affected gene into our cells. We can achieve this inCzech Republic presents a Call to Action on rare diseases at the Expert Conference
Several European politicians and technicians attended this conference where the Czech government committed to push on a European action plan on rare diseases, presenting a Call to Action also endorsedHow online education can help children with rare diseases
The number of European Union citizens living with rare diseases is estimated to be around 30 million, according to Eurordis Rare Diseases Europe. In fact, 1 in 17 people will be affected by a rarePere Cardona, Spanish Association of Stiff Person Syndrome: "Being able to talk and be close to someone who is going through the same thing can really save you"
Isabel worked at a supermarket in Calella (Barcelona). 10 years ago, when she was getting ready to go to work, she noticed how her right leg would not follow the orders she was sending from her brain