The international patient registry for COVID-19 and rare diseases is now available for clinicians
People with a rare disease are vulnerable, but this vulnerability is currently being exacerbated by the global COVID-19 pandemic. Sant Joan de Déu Barcelona Children’s Hospital, together with the Sant
An Interview with Marjolein van Kessel — President of Naevus Global
Thank you, Marjolein, for taking the time to be interviewed! Could you please give us a bit of background about congenital melanocytic naevi and the issues associated with them? A congenital
Dr. Marcelo Andrade: "Our intention is to include patients, families and health professionals from around the world in the registry of COVID-19 and rare diseases"
Through collaboration between Sant Joan de Déu and Garrahan Hospital, an ambitious project that connects COVID-19 and rare diseases has been developed. The initiative has supported the creation of a
International Congress on the Effects of COVID-19 on People with Rare Diseases
The International Congress on the Effects of COVID-19 on People with Rare Diseases will be held on November 9-11 th 2020 and it is organized by the Sant Joan de Déu Barcelona Children's Hospital
The EMA launches a public consultation on registry-based studies
A few weeks ago we published a blog explaining what a patient registry was. These databases enclose quantitative and qualitative data about patients who affected by a particular condition, like for
The case of undiagnosed profiles in Share4Rare
Share4Rare has very nice support for patient profiles with a diagnosis. These users will find that Share4Rare is a system in which they can interact, communicate, and share knowledge with other users
The MRC Centre for Rare and Neuromuscular Diseases Biobank
The principal objective of the MRC Biobank is to collect biomaterial from patients affected by neuromuscular disorders with the aim of supporting translational research. The availability of high
Data for a difference — The Share4Rare research feature for patient organisations
Violeta Astratinei is a Ph.D. biologist with a background in environmental research. After she lost her sister to melanoma in 2014, she became a core member of Melanoma Patient Network Europe, MPNE
Gemma Marfany: "Researchers, patients and families must come together to fight rare diseases"
Gemma Marfany is a professor in the Department of Genetics at the University of Barcelona (UB) and head of Unit U718 at CIBERER, the Spanish biomedical research centre for rare diseases. She is also a
EURO-NMD – An overview of European Reference Network for neuromuscular diseases
A staggering 7000-8000 rare diseases affect the daily lives of around 30 million people across the European Union. Even though EU citizens benefit from improved access to healthcare throughout the
New Share4Rare webinar: “International patient registry for rare diseases and COVID-19”
On September 18th Share4Rare organizes a webinar along with the Garrahan Hospital from Buenos Aires (Argentina) to present the new international patient registry that will be created in the platform
Between hype and hope: the truth about gene therapy and genome editing in Duchenne muscular dystrophy
About Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy affecting around 1 in 5,000 newborn boys worldwide. The main characteristic is a