Wednesday, 26 April 2023 from 8:30-12:30 CEST, online
Registration: https://us02web.zoom.us/webinar/register/WN_M1qQIxIhTwa37xFgwiAxJQ
The programme can be found here:
Towards the future of rare disease diagnostics
08.30 AM – 10.15 AM | Chair: Ana Rath
• Keynote lecture: Towards a personalised systems biomedical approach for the diagnosis and nutritional treatment of inherited metabolic diseases
Ines Thiele, University of Galway
• Keynote Lecture: Hyperpersonalized therapies for the long tail of genetic disease
Timothy Yu, Boston Childrens Hospital & Harvard Medical School
• The patient perspective
Gulcin Gumus, Eurordis
• SOLVE-RD 2.0
Olaf Riess, University of Tübingen
Impact of Solve-RD on research & care of rare disease patients
10.45 AM – 12.30 PM | Chair: Han Brunner & Holm Graessner
• Key SOLVE-RD achievements
Holm Graessner, University of Tübingen
• Genomics reanalysis of a pan-European rare disease resource yields >500 new diagnoses
Alex Hoischen, Radboud UMC & Sergi Beltran, CNAG-CRG
• Round Table: The future of rare disease diagnostics in Europe
Simona Bellagambi, Eurordis | Daria Julkowska, INSERM | Christina Kyriakopoulou, European Commission, DG Research & Innovation | Milan Macek, Charles University Prague | Olaf Riess, University of Tübingen | Lisenka Vissers, Radboud UMC | Timothy Yu, Boston Childrens Hospital & Harvard Medical School