New experimental therapy for patients with recessive dystrophic epidermolysis bullosa proves successful
A new experimental therapy has been successfully tested in 9 people with recessive dystrophic epidermolysis bullosa. The study, led by Standford University (USA), has been published in Nature and
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 Eva
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
Health-related quality of life in rare diseases
Share4Rare is a growing community with thousands of users (patients, caregivers, and patient organisations) living with rare conditions. To study the impact and the burden of these diseases
The story of Hafiz: father of a Duchenne adult in Sri Lanka
I am Hafiz Issadeen, a parent from Sri Lanka. I had a son with Duchenne muscular dystrophy who died last year at the age of 37. I thought he must be the oldest patient in Asia at that time. I used to
The importance of educating patients and families about the science of rare diseases
Science shapes our daily lives — see for example to what extent the COVID-19 pandemic outbreak has affected us and how science is continuously trying to solve this misfortune —, influencing many of
Diagnosing and treating gliomatosis cerebri
What is a biopsy? A biopsy is an extraction of little samples of tissue that are to be checked under the microscope by pathologists. Tumors are biopsied in their origin, to assure that tumor cells are
New Share4Rare study on health-related quality of life in people living with rare diseases
The Share4Rare platform is growing day by day. Our safe space is taking in patients and families from all over the world to share knowledge and expertise and boost patient-centred research projects
Challenging endings, hopeful beginnings
The last two years of the Covid pandemic have made everyone reflect on the flow of time, moreso those of us who are raising children with life-limiting and rare conditions. Time is precious to us
7 tips to organise a successful global online training for your rare disease community
Organising a training on a global scale can seem daunting at first. But when done right, you have created a connected community and move forward with a joint strategy that can benefit all. Are you