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
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
What is whole genome sequencing and how can it help rare disease research?
A recent paper published in the New England Journal of Medicine reveals that the group of techniques known as whole genome sequencing (WGS) can be of great help on rare disease diagnosis. Through this
Interview with Dr. Eulàlia Baselga, leader of the Share4Rare project on vascular malformations
Eulàlia Baselga has been working on paediatric dermatology for almost 30 years. Her main line of research are vascular malformations, which, in her words, " are very different from patient to patient
Try these 5 tips to strengthen your patient advocacy effort
The following steps will help you set the groundwork on which to build and maximise your chances of success. In the Share4Rare Toolkit for Patient Advocacy, we explain exactly how to do this practice
Share4Rare study of sleep abnormalities in SYNGAP-1 syndrome
SYNGAP-1 syndrome is an ultra-rare disease caused by a mutation in the SYNGAP1 gene , involved in brain development. Children born with a mutation in th is gene are affected by a wide range of
New Share4Rare study on the description of the natural history of vasculopathies
Vascular anomalies are alterations in the development of the vascular system produced by mutations in different genes. Those anomalies can present a wide variety of symptoms that may differ in each
Share4Rare Call4Projects 2022 for patient-centred research initiatives
Share4Rare aims to put rare diseases patients at the centre of research , not only by asking them directly regarding their condition but also by providing them a safe platform where they can