The Research & Innovation workgroup launched in 2023 a new ITHACA Workshop dedicated to research in the field of the ERN.
The aim of this event is to provide a new platform for ERN members to present and discuss their collaborative research projects.
The Workshop is held as a single-day meeting that follows the ITHACA Board, which usually takes place in December. With this new ERN gathering, we wish to encourage collaboration and the sharing of knowledge and expertise across the ERN-ITHACA community, and to facilitate the development of new research projects.
This year’s Research Workshop will be held on Friday dec. 3 in Bergen, Norway.
Agenda
| Time | Speakers | Presentation |
| 8h25-8h30 | Marco Tartaglia and Zeynep Tümer | Welcome speech |
| ERDERA Diagnostic Research Workstreams | ||
| 8h30-9h00 | Leslie Matalonga | Diagnostic Research Workstreams in ERDERA: data submission processes and data rediness |
| 9h30-10h00 | Sergi Beltran | Diagnostic Research Workstreams in ERDERA: DATF analyses |
| 10h00-10:30 | Lisenka Vissers | Diagnostic Research Workstreams in ERDERA: DITF and data interpretation |
| 10h30-11h00 | Coffee break | |
| ERN ITHACA Meets Genturis | ||
| 11h00-11h30 | Marjolijn Ligtenberg | Introduction to GENTURIS and genomic instability in cancer and diseases |
| 11h30-12h00 | Hilde Brems | The concept of mosaic RASopathies /neurofibromatosis and schwannomatosis |
| 12h00-13:00 | Lunch Break | |
| 12h00-12h30 | Kleoniki Roka | Telomere biology and its link to developmental disorders |
| Collaborative research talks | ||
| 13h30-13h45 | Bert Callewaert, Ghent, Belgium | Defining Myhre syndrome in Adulthood |
| 13h45-14h00 | Alessandra Renieri, Siena, Italy | AUTS2 syndrome: defining genotype-phenotype correlation |
| 14h00-14h15 | Maria Eugenia Amato, Barcelona, Spain | Genotype-phenotype characterization of YWHAG-related disorders |
| 14h15-14h30 | Coffee break | |
| 14h30-14h45 | Christiane Zweier, Bern, Switzerland | Further delineation of SCAF4-associated NDDs |
| 14h45-15h00 | Pablo Iruzubieta Agudo, Donostia-San Sebastian, Spain | Clinical, genetic and neuroimaging features of biallelic NOTCH3 disorders |
| 15h00-15h15 | Gunnar Douzgos Houge, Bergen, Norway | Houge-Janssens syndrome: Clinical overview and novel pathogenic mechanisms |
| 15h15-15h30 | Closing remarks | |