Meeting the partners — John Walton Muscular Dystrophy Research Centre
Dr. Michela Guglieri is Honorary Consultant in Human Genetics and is working as a Neurologist and Senior Research Associate at the John Walton Muscular Dystrophy Research Centre (JWMDRC). Upon
Interview to Daniela Robles-Espinoza, researcher and expert in acral melanoma
Dr. Daniela Robles-Espinoza, from International Laboratory for Human Genome Research (LIIGH) on the National Autonomous University of Mexico (UNAM), is an expert in acral melanoma, a very rare form of
Exercise in neuromuscular disorders: a moving topic
Nicole Voet is a rehabilitation physician and scientific researcher in the Rehabilitation Centre Groot Klimmendaal in Arnhem and in the academic medical hospital Radboud University Medical Centre in
New webinar — Patient advocates fostering research in oncology: the Share4Rare experience
One of the pillars of Share4Rare is to enhance collaborative research. For that purpose, at the end of 2019 the platform started piloting four research projects concerning several groups of rare
The new “People Like Me” version in the Share4Rare platform
The goal of Share4Rare is to advance the knowledge of rare diseases through collaborative intelligence. This approach assumes a philosophy based on equity, in which the more information the user
ASCO 2020 — Free learning opportunity for patients!
ASCO Annual Meetings are great opportunity for healthcare professionals and patients advocates all over the world to follow the latest scientific news in cancer research. Exceptionally this year, in
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