Tyrosinemia type 1 : prognosis of type 1 tyrosinemia has improved due to newborn screening
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)
ERN: Launch of an exchange Programme for healthcare professionals in European Reference Networks
An ERN Exchange Programme 2020-2022 for healthcare professionals in European Reference Networks has been launched, funded by the European Commission. The objective of this programme is to foster knowledge sharing and stimulating collaboration between health care professionals in European Reference N...
ERNs and Brexit
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...
Rare Digital Disease Day 2021 : Online but together !
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on over 300 million patients’ lives. Since Rare Disease Day was first launched by...
Supporting the Development of Newborn Screening in Europe
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...