Newborn Screening Working Group (NBS-WG)

Newborn screening is the process of systematically testing newborns just after birth for certain treatable diseases. Ideally, this practice is part of a larger programme that includes confirmatory diagnosis, immediate care, treatment and follow-up. The EURORDIS Newborn Screening Working Group (NBS-WG) was set up to review current policy and practice in the field of NBS, in order to develop principles for harmonious uptake/adoption of the NBS programs across the Member States with a view to delivering maximum benefit and improving outcomes for babies born with rare diseases.

Members of NBS-WG include representatives from patient organizations, international screening societies and international and national federations with a focus on NBS.

In January 2021, EURORDIS, alongside its Council of National Alliances, Council of European Federations and its members, have set out 11 Key Principles to support an harmonised European approach to Newborn Screening.

Name Organization Country
Bojana Mirosavljević Life Organization - Život Serbia
Cor Oosterwijk VSOP The Netherlands
Domenica Taruscio Istituto Superiore di Sanità Italy
Dorota Zgodka FH Europe Switzerland
Eduardo Lopez  Spanish association for lysosomal acid lipase deficiency (AELALD) Spain 
Gulcin Gumus EURORDIS Spain
Laetitia Ouillade SMA Europe France
Lora Ruth Wogu European Sickle Cell Federation Ireland
Luc Zimmermann The European Foundation for the Care of Newborn Infants (EFCNI) Germany
Magdalena Daccord FH Europe Austria
Manuela Vaccarotto Associazione Italiana Sostegno Malattie Metaboliche Ereditarie (AISMME) Italy
Mark Turner University of Liverpool United Kingdom
Martina Cornel Amsterdam UMC The Netherlands
Nick Meade Genetic Alliance UK United Kingdom
Patricia Arias FEDER Spain
Rene Brectan Rare Diseases Czech Republic Czech Republic
Simon Wilde Genomics England Italy
Simona Bellagambi UNIAMO  United Kingdom
Valentina Bottarelli EURORDIS  Belgium
Virginie Bros-Facer EURORDIS  France
Urh Groselj Ljubljana University Medical Centre  Slovenia

 

Page created: 15/06/2020
Page last updated: 27/12/2021
 
 
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases