Event: The Scope of Rare Disease Medicine and the Further Development of EuroBioBank
Date: Wednesday 24 April 2024
Time: 14:00 - 17:15
Venue: Hybrid: UM Msida Campus & Online
Register: Online (via )
Agenda
- 14:00 - 14:15; Introduction/s
- 14:15 - 14:30: Partnering EUROBIOBANK and BBMRI-ERIC
Jens Habermann, Director General, BBMRI-ERIC, Graz, Austria
- 14:30 - 14:45: INHERENT & ITHANET; IT tools for discovery from the HER and the literature
Petros Kountouris, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
- 14:45 - 15:00: Rare Disease Medicine and the Personalisation of Care within the Scope of the 1+ Million Genome project
Domenico Coviello, IRCCS Istituto Giannina Gaslini, Genova, Italy
- 15:00 - 15:15: Building the RD ecosystem: The European Joint Programme on Rare Diseases and the forthcoming European Rare Diseases Research Alliance
Cl茅ment Moreau, European Joint Programme on Rare Diseases, INSERM, Paris, France
- 15:15 - 15:35: Coffee Break
- 15:35 - 15:45: Genetic newborn screening and digital tools to accelerate the diagnosis of Rare Diseases: the EU-IMI funded Screen4Care project
Alessandra Ferlini, EU-IMI SCREEN4RARE, University of Ferrara, Italy
- 15:45 - 15:55: The ISNS; Linking Neonatal testing with Rare Disease Biobanking
Peter Schielen, Sheffield Children鈥檚 NHS Foundation Trust, Sheffield, United Kingdom
- 15:55 - 16:05: The EPA; Education and Awareness among Health Care Professionals, The Paediatrician
Tudor Popp, European Pediatrics Association, Bucharest, Romania
- 16:05 - 16:20: CY-BIOBANK & the Medi-Euro Network
Constantinos Deltas, University of Cyprus, Nicosia, Cyprus
- 16:20 - 16:35: Metabolic Profiling in Rare Disease
Adam Kennedy, Metabolon Inc., Morisville, North Carolina, USA
- 16:35 - 17:15: Discussion; Scope of Rare Disease Biobanking
Prof. Alex Felice, University of Malta, Malta & Domenico Coviello, IRCCS Istituto Giannina Gaslini, Italy
