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
Anna Kole EURORDIS  France
Clara Hervas EURORDIS  Belgium
Cor Oosterwijk VSOP The Netherlands
Domenica Taruscio Istituto Superiore di Sanità Italy
Eduardo Lopez  Spanish association for lysosomal acid lipase deficiency (AELALD) Spain 
Francesca Forzano  European Society of Human Genetics (ESHG) United Kingdom
Gulcin Gumus EURORDIS  Spain 
Jayne Spink Genetic Alliance UK United Kingdom
Johan Prevot (observer) IPOPI Portugal
Johanna Pfeil The European Foundation for the Care of Newborn Infants (EFCNI) Germany
Laetitia Ouillade SMA Europe France
Luc Zimmermann The European Foundation for the Care of Newborn Infants (EFCNI) Germany
Manuela Vaccarotto Associazione Italiana Sostegno Malattie Metaboliche Ereditarie (AISMME) Italy
Mark Turner University of Liverpool United Kingdom
Martina Cornel Amsterdam UMC The Netherlands
Patricia Arias FEDER Spain 
Simona Bellagambi UNIAMO Italy
Valentina Bottarelli EURORDIS  Belgium
Virginie Bros-Facer EURORDIS  France

 

Page created: 15/06/2020
Page last updated: 03/06/2021
 
 
A voz das pessoas com doenças raras na EuropaEURORDIS A voz internacional das pessoas com doenças raras, Rare Diseases InternacionalRare Disease International Reúne doentes, famílias e especialistas para partilhar experiências num fórum multilinguístico. RareConnect O programa Rare Barometer é uma iniciativa da EURORDIS para a realização de inquéritos para transformar a experiência das pessoas com doenças raras em números e factos que podem ser partilhados com os responsáveis pela tomada de decisões.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 Adira ao maior encontro europeu das partes interessadas no âmbito das doenças raras na Conferência Bienal Europeia sobre Doenças Raras e Produtos Órfãos. A ECRD é uma iniciativa da EURORDISEuropean Conference on Rare Diseases