In pursue of the discovery of DUX4 small molecule repressors: how long is the path to the clinic in FSHD?
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common form of muscular dystrophy affecting 1 in 8,333 individuals worldwide. The disease is characterized by progressive and
New registry to better understand how COVID-19 affects people with rare diseases
In the current global pandemic due to COVID-19, patients affected by a rare disease are a doubly vulnerable group: on the one hand, many of the rare pathologies put patients at a higher risk of
What is a patient registry?
A patient registry collects information about patients who are affected by a particular condition. Registries are databases containing quantitative and qualitative data about the patients. In rare
Why is understanding the natural history of a disease so important?
We are currently in the middle of a global pandemic caused by the new SARS-CoV-2 coronavirus, which causes a disease (COVID-19) that was completely unknown a few months ago, even to the medical and
Virtual coffee with patient organisations and Share4Rare: 'Advancing a Patient-Centric Research Agenda'
Research is at the heart of solutions for all patients. However, it is not always conducted with the patient in mind. Patient organisations are increasingly invited to submit evidence to healthcare
Share4Rare Webinar: ‘FAIRness of Data in Rare Diseases’
Rare disease patients tend to be more in favour of sharing health related data than the general population. A recent study from EURORDIS’ Rare Barometer survey shows that 97% of rare disease patients
Free access to this year’s ASCO for patients - Register now!
The annual congress of ASCO (American Society for Clinical Oncology) is the world’s largest oncology meeting. Last year over 30,000 people attended! ASCO is one of the congresses where the very latest
María Cecilia Foundation: improving the lives of families affected by childhood cancer
The María Cecilia Foundation was established in 1991 by a group of parents of children diagnosed with cancer. Through their experiences, they envisioned to give life to an organization that could help
A patient story — "How my daughter was diagnosed with in situ melanoma"
Irina, thank you for telling us about your daughter’s story. If I am to talk about what happened to us, I could tell you that we have taken our daughter to a private clinic rather by chance, not
Meeting the partners — Melanoma Patient Network Europe
Melanoma is a cancer starting in the pigment-producing cells of our body called melanocytes. The most common form of melanoma is skin melanoma. However, in rare cases, melanoma can also start in the
How online education can help children with rare diseases
The number of European Union citizens living with rare diseases is estimated to be around 30 million, according to Eurordis Rare Diseases Europe. In fact, 1 in 17 people will be affected by a rare
Natalí Dafne Flexer Foundation: helping children with cancer in Argentina for 25 years
Natalí developed cancer and died one year and three months after starting treatment, in July 1995. In her memory, her mother Edith created the Natalí Dafne Flexer Foundation (FNDF) to help children