Sant Joan de Déu Barcelona Children's Hospital and FEDER join forces to tackle rare diseases
The new collaboration agreement between Barcelona's hospital and the Spanish umbrella organisation aims to drive knowledge-sharing, enhance coordination, and foster experiential exchange through
Victoria Castillo — Mother of a young man with arthrogryposis
Arthrogryposis is not a specific disease, but a group of disorders with diverse symptoms, all of which ultimately impact the joints and muscles in the body . A diagnosis of arthrogryposis is given
Gisela Guevara — Madre de una joven con dermatomiositis juvenil
Ana comenzó a tener problemas de salud de un día para otro. Al principio le aparecieron lesiones cutáneas en codos y rodillas que se confundieron por dermatitis atópica, pero con el tiempo los
3rd Share4Rare open call for patient-driven research projects
Research in rare diseases faces significant challenges due to the limited number of patients and geographical and linguistic barriers. In light of this, Share4Rare has made it a priority to foster the
Pere 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
Share4Rare and CIBERER join forces to identify patients with rare diseases
CIBERER and Share4Rare have established a collaboration agreement to boost rare disease research. As a secure digital platform open to patients and caregivers from all over the world, Share4Rare
Amniocentesis test
Amniocentesis is a procedure by which part of the amniotic fluid (the liquid contained within the amniotic sac) is removed for genetic testing during pregnancy. It is mainly used to detect anomalies
We speak with Gonzalo Bermejo, president of SYNGAP-1 Spain
Gonzalo Bermejo’s daughter Carlota was diagnosed with SYNGAP-1 syndrome almost 4 years ago. She was 11 at the time. " The Spanish West Syndrome Foundation payed for our genetic test and the results
Share4Rare webinar: Medical imaging in rare disease diagnosis
Medical imaging tests allow health professionals to obtain whole-body internal images or to visualize specific parts or organs. These tests are often used to find a diagnosis and to establish disease
Animal-assisted interventions: a great tool to accompany and treat paediatric patients
This innovative tool was introduced in Sant Joan de Déu by Mª Josep Planas (HSJD Planning Director) and Núria Serrallonga (Child Life HSJD) through the CTAC ( Canine-Assisted Therapy Centre), where
Analysis of sleep disorders in SYNGAP-1 syndrome
Neurodevelopmental problems frequently come along sleep disorders. People with this type of brain damage often have trouble falling asleep or resting properly during sleep and may experience daytime
New Share4Rare study: Access to COVID-19 vaccination in people with rare diseases
In 2020 we launched an international registry to study the effects of COVID-19 on people with rare diseases. At that time, there was little or no knowledge about the effects of the pandemic on the