-
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 this gene are affected by a wide range of symptoms -
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 -
Patient advocates: this toolkit should be on your holiday reading list
“The Share4Rare Toolkit for Patient Advocacy is a very well-designed toolkit that helped me a lot. It gave me the much-needed organisational support and ideas, and ways to innovate my practice. Mainly -
Interview to Verónica Zofío — Affected by lymphangioleiomyomatosis
Verónica Zofío is the marketing manager of an environmental laboratory. She is 40 years old and was born and raised in La Vall d'Uixó, Castellón (Spain). Six years ago she had a pneumothorax -
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