Webinar : “ERN ITHACA Innovation in Newborn Screening across Europe “

Lieu visioconférence

WEBINAR T&T  - ERN ITHACA Webinar #5 2022 

Webinars #6 on Tuesday 21st of March 5pm-6.30 pm French time

“ERN ITHACA Innovation in Newborn Screening across Europe “

Chaired by Pr Laurence FAIVRE, Workgroup Teaching and Education


With this webinar about newborn screening (NBS), we will present two European pilot programs to extend NBS with a genomic approach, discussing on technical, clinical, and ethical aspects. We will also present an innovative research project to accelerate rare disease diagnosis, with a pillar focused on NBS, and the voice of patients. Finally, we will briefly present a research project aiming at studying the acceptability of the expending NBS in a European country.

Welcome and Introduction – (5.00-5.05 pm)

.          Pr. Laurence Faivre, Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Dijon (France)

Topic 1 - Presentation of 2 European NGS pilot projects in Europe  (5.05-5.35 pm)

·         The UK 100.000 genome project in newborn screening

Dr. David Bick, Newborn Genomes Programs at Genomics England, London (England)

·         The Netherland pilot NGS extended newborn screening

Dr. Marcel Nelen, Genome Diagnostics Center UMC, Utrecht (Netherlands)

Topic 2 - Presentation of the newborn screening axis of the Screen4Care project (5.35-5.50 pm)

·         Pr. Alessandra Ferlini, Medical Genetics Unit, S.Anna University Hospital, Ferrara (Italy)

Topic 3 - The Eurordis position statement on extended newborn screening (5.50-6.05 pm)

·         Gulcin Gumus, Research & Policy Project Manager, EURORDIS, Barcelone (France)

Topic 4 -The SeDeN project: a study of the acceptability of professionals and the population in France before setting up a pilot project (6.05-6.15 pm)

·         Dr. Camille Level, Study engineer in health economics at Dijon Bourgogne University Hospital, Dijon (France)

Discussion time (6.15-6.30 pm)

Conclusion with speakers and moderator



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