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
 
 
La voix des patients atteints de maladies rares en EuropeEURORDIS Donnant la voix, à l'international, aux personnes vivant avec une maladie rareRare Disease International Pour rapprocher patients, familles et experts sur un forum modéré multilingue, où partager leurs expériences. RareConnect Le programme Rare Barometer est une initiative d’EURORDIS qui vise à réaliser des sondages pour transformer les expériences des patients de maladie rare en faits et chiffres à communiquer aux décideurs politiques.Rare Barometer Campagne internationale de sensibilisation organisée chaque année le dernier jour de février, la Journée Internationale des Maladies Rares est une initiative d'EURORDISRare Disease Day Participez au plus grand événement réunissant tous les acteurs des maladies rares en Europe lors de Conférence européenne bisannuelle sur les maladies rares et les médicaments orphelins (European Conference on Rare Diseases and Orphan Products, ou ECRD). L'ECRD est une initiative d'EURORDISEuropean Conference on Rare Diseases