Rare Diseases International (RDI) holds an agreement with the World Health Organization (WHO) to help shape international rare disease policy and increase awareness of rare diseases, strengthen healthcare systems, encourage to adopt strategies to address rare diseases, and improve access to affordab...

Consult the pubmed abstract To read more about “Tyrosinemia type 1” Orphanet J Rare Dis . 2020 Oct 12;15(1):281. (source: OrphaNews January 22, 2021)

The Brexit transition period for the United Kingdom, which expired on 31 December 2020, marked the end of UK centre participation in European Reference Networks. However, patient representatives representing UK patient organisations can still participate in ERNs as the ERN status of UK-based patient...

There is a considerable and long-standing variation in the practice of newborn screening among the countries of Europe.  The reasons for this partly reflect the differences in population and resources available within each country but also represent the differing approaches among policy makers when...