The role of patient organisations in implementing newborn screening for rare diseases
A recent article published in the Rare Disease and Orphan Drugs Journal highlights the critical role of patient organisations in promoting newborn screening for rare diseases. The goal of these tests
Marta Farré — Mother of a boy with epidermolysis bullosa
When Adrià was born, doctors noticed that he had severe wounds on his legs and feet. The gynaecologist who attended to them first mentioned the disease: epidermolysis bullosa (EB), a genetic condition
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
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 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
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
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
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 Joan Carles — Father of a girl with retinoblastoma
Joan Carles does not forget that day: “ Júlia was diagnosed on May 29 th 2018, when she was a few months old. The symptom that she presented at that time was the strabismus of the left eye. That was