December 19, 2022

Screen4Rare and the MEP Alliance on newborn screening for rare diseases hold their second event

IPOPI, as one of the founding members of Screen4Rare, has been working hard in the past months to raise awareness of the importance of newborn screening for rare diseases in the European Union.

Newborn screening on the agenda

On November 30, 2022, the second meeting of Screen4Rare and the Members of the European Parliament (MEP) Alliance on Newborn Screening was organised at the European Parliament in Brussels (Belgium). The meeting was chaired by MEP Stelios Kympouropoulos and MEP Deirdre Clune. The objective of the event was to discuss the importance of including newborn screening in any future legislation or policy initiatives on rare diseases, as a way of ensuring a swift diagnosis and access to early treatment and care for children born with treatable rare diseases, such as severe combined immunodeficiencies (SCID).

The event, moderated by Mr Johan Prevot, IPOPI Executive Director, had interventions from Prof Fabio Candotti, ESID President, Dr Peter Schielen, Office Manager of the International Neonatal Screening Society (ISNS) and Ms Leire Solis, IPOPI Health Policy and Advocacy Senior Manager.  Representatives from two EU countries were also among the speakers and provided an insight into how their countries had approached (in the case of Ms Martine Brzkova, health attaché of the Czech Permanent Representation to the EU) and were approaching (for Mr Enrique Terol, health attaché of the Spanish Permanent Representation to the EU) their countries’ EU Presidency.

The meeting also dedicated time to discuss the great work developed by the European Reference Network representatives in the three agreed areas of work (1) with interventions from Prof Mirjam Van der Burg (Leiden University Medical Centre), Prof Peter Schielen (ISNS), and Prof Fabio Candotti (ESID).

Expert conference on rare diseases

Screen4Rare was also invited to the Expert Conference on Rare Diseases entitled “Towards a New European Policy Framework: Building the future together for rare diseases” in Prague (Czech Republic) on October 25-26, 2022. Prof Maurizio Scarpa, Coordinator of MetabERN and representative of Screen4Rare, provided a keynote presentation on the importance of neonatal screening for early diagnosis of rare diseases.

(1) 1. Identification of gaps in newborn screening programmes; 2. Case definitions on newborn screening and approaches to confirmatory testing; 3. Registries and interoperability of data).

Screen4Rare is a multi-stakeholder platform launched by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the International Society for Neonatal Screening (ISNS), and the European Society for Immunodeficiencies (ESID).