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European Reference Networks: Progress to date and expectations for 2018
2017 was an important year for the 24 European Reference Networks (ERNs): it was the year in which the Networks were officially launched (at the annual conference in Vilnius in March 2017) and in which they began to address their multiple responsibilities as Networks spanning the domains of care and...
Newborn bloodspot screening National Policy Framework in Australia
In May 2018, Australia Health Minister Roger Cook has welcomed the decision of Newborn Bloodspot Screening (NBS) programs across Australia to unite in a national approach. Indeed, in Australia, NBS is provided by programmes funded by State and Territory governments, thus work independently from one ...
European Commission establishes Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases
On 17 July 2018, the European Commission adopted a Decision which established the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases as a formal expert body. This steering group will replace existing Commission expert groups (such as the EC Expert Grou...
Rare diseases mentioned for the first time at WHO 71st World Health Assembly
At the end of May 2018, Paloma Tejada, Director of Rare Diseases International (RDI), delivered an official statement at the World Health Assembly of the World Health Organisation (WHO) in Geneva. It called to “not leave behind significant but often neglected rare diseases, each of which affect re...
Global Association for PKU (GAP) unveiled
(Atlanta, July 7 2018) Today at the NPKUA Conference in Atlanta, Georgia, the Global Association for Phenylketonuria (GAP) was unveiled. Representatives from patient groups across four continents have been working towards this dream since it was first conceived of in Dublin, Ireland 2016. Represent...
New CLSI document on Newborn Screening
Best Practices for Newborn Screening Early detection, diagnosis, and treatment of newborn diseases are critically important. Timely newborn screening can prevent death and improve patient care outcomes. CLSI newborn screening laboratory standards provide test collection instructions, as well as info...
Italy expands its neonatal screening panel as of 2018
Italy recently adopted a law for mandated national screening for 40 congenital and metabolic conditions. See for the Italian text of the law http://www.trovanorme.salute.gov.it/norme/dettaglioAtto?id=55762 and the implementation act http://www.trovanorme.salute.gov.it/norme/dettaglioAtto?id=56764. T...
Rare disease policy in 11 countries: an analysis
The national rare disease policy in 11 countries have been compared and contrasted in an article published in the Orphanet Journal of Rare Diseases. The authors evaluated the rare disease policy landscape in Germany, France, the United Kingdom, Canada, Bulgaria, Turkey, Argentina, Mexico, Brazil, Ch...