• #S4RMonth activity: The role of genetics in the diagnosis of rare diseases

    In Share4Rare we will celebrate throughout February an initiative within the framework of the activities that will take place globally as part of Rare Disease Day: #S4RMonth. Each week of February
  • An interview with Jeffrey Galuidi — Father of a young boy with congenital myasthenic syndrome

    Jeffrey Galuidi is Jackson’s father, a young boy with congenital myasthenic syndrome (CMS), a rare neuromuscular disease. “Jackson was diagnosed with a general muscle wasting condition a couple of
  • Wednesday is Share4Rare User Day

    In 2020 hundreds of people from 50 countries were connected in the Share4Rare community. The pandemic has forced us to include technology in our day to day life and you may have some doubts about the
  • The bright side of 2020: what we have done and achieved in Share4Rare

    The New Year began with the launch of a research project aimed at studying the long-term adverse effects of paediatric acute lymphoblastic leukaemia, which was added to the pilot projects opened in
  • Meeting the partners — UPC. How technology is used to connect and educate the rare disease world.

    Universitat Politècnica de Catalunya – BarcelonaTech (UPC) is a public institution for research and higher education in engineering, architecture, sciences, and technology. By providing solid
  • The Share4Rare research project on neuromuscular rare diseases: analysing how the disease affects employment and education

    The Share4Rare platform is growing in strength, with over 900 users validated since April 2019. This growing community of rare disease patients and families is providing a secure environment for
  • Report - 3rd day of the International Congress on the Effects of COVID-19 in People with Rare Diseases

    The challenge of undiagnosed patients: challenges and needs Dr. Marcelo Andrade opened the first table of the third day of the congress. This paediatrician at the Sant Joan de Déu Hospital explained
  • Report - 2nd day of the International Congress on the Effects of COVID-19 in People with Rare Diseases

    Emotional support to the affected people: the role of patient organizations and virtual communities Roberta Anido de Pena (president of FADEPOF) opened the session with a panel that discussed the role
  • 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
  • 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
  • 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
  • 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