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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 |
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The voice of rare disease patients in Europe
The international voice of people living with rare diseases
Bringing together patients, families and experts to share experiences in a moderated multi-language forum.
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.
An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiative
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 initiative
The international voice of people living with rare diseases
Bringing together patients, families and experts to share experiences in a moderated multi-language forum.
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.
An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiative
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 initiative