• 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
  • Report - 1st day of the International Congress on the Effects of COVID-19 in People with Rare Diseases

    The opening of the congress was led by Patricia García, medical director of the Garrahan Hospital, a reference centre for rare diseases in Argentina. García explained the challenge that COVID-19
  • Meeting the partners — Òmada Interactiva

    The approach of Òmada was classic, yet revolutionary. After conducting a preliminary analysis and benchmarking, the initial graphic, functional and technological design of the open layer of the
  • 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
  • Duchenne Patient Academy 2020: a leading worldwide patient advocacy event on neuromuscular conditions

    Duchenne Patient Academy works in partnership with leading DMD patient organisations to set a strong patient advocacy base for patient organisations and the Duchenne and Becker community at large. We
  • 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 9-11th 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
  • Lessons learned: Share4Rare’s new Digital Informed Consent

    All around the globe, 2020 has brought with it a lot of downs. However, it has also brought some very valuable ups, mainly in the form of lessons learnt and powerful insights into what we are capable
  • 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
  • Gathering people’s knowledge on cell and gene therapy to create tailored educational materials for patients and citizens

    Being educated on health sciences can bring you numerous benefits as a regular citizen, especially if your are a patient or a caregiver: this way you will be more empowered on and will be able to
  • 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