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
The Share4Rare End Event was a successful closure meeting
Loretta Anania , Programme Officer with the European Commission and DG CONNECT, opened the meeting. “ Having a patient-centred approach was something really exceptional. [Share4Rare] was part of the
“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 precision
Share4Rare launches the 1st open call for patient-driven research projects
Share4Rare invites patient organisations and researchers in the field of rare diseases to apply for conducting their patient-centred studies within the platform. The ambition of Share4Rare is to put
Share4Rare End Event: setting the path for next generation data sharing in rare diseases
Rare disease patients and their families have the right to be part of a community, wherever they are in the world. It is equally important that research that is performed will benefit the patient
Meeting the partners — The Synergist
They say it takes a village, and the rare diseases community is just that - a tight knit group with a sense of camaraderie and fellowship. This is the power of Share4Rare - creating a platform where
The burden of care
Gilly, thank you for taking the time for this interview. When thinking about cancer, many will think about the burden of disease- you have however argued for a long time that there is also a burden of
COVID-19, an additional burden for melanoma and all cancer patients
Violeta, thank you for taking the time for this interview. You have recently conducted a research study into how COVID affected melanoma patients in Romania. Can you tell us something about what you
Interview to Àngels Puigvert — Mother of a girl with megalencephaly-capillary malformation syndrome
Àngels Puigvert's life is anything but calm, but he was able to find some time to answer some questions about her daughter and the work carried out by her association. Thank you Àngels! " Queralt was
Research study on neuromuscular diseases: interactive session with families
In this session we will explain the Share4Rare research project on neuromuscular diseases . This study collects information about quality of life/burden of the pathology and the impact of the disease