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
Download here the program in a PDF format.
We would appreciate if you could fill out the Form if you plan to participate before March 17th.
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