On December 10th, from 14:00 to 17:00 CET, the WG Research of ERN ITHACA, chaired by Zeynep Tümer and Marco Tartaglia, will be hosting the next workshop, adjacent to the ERN ITHACA Board meeting, in Budapest, Hungary. The workshop will focus mainly on the methods / techniques / platforms used in the research projects of ERN ITHACA members and partners.
Program of the meeting:
| Research Workgroup Workshop | |
| 14:00 | Short Introduction |
| 14:05 | LRFN5 locus structure is associated with autism in males | Gunnar Douzgos Houge |
| 14:20 | Inherited defects of the elastic fiber: an international consortium | Bert Callewaert |
| 14:35 | Clinical prospects of long-read sequencing in structural variant analysis | Steffen Moeller-Larsen |
| 14:50 | Functional studies of rare, genetic synaptopathies | Amanda Levy |
| 15:05 | GRIA genes, AMPA receptor and patch-clamping | Allan Bayat |
| 15:20 | EpiProspects: Evaluating prospects of epigenome profiling in unsolved syndromal cases | Julia Schulze-Hentrich |
| 15:35 | Break |
| 15:50 | BRAINmodel: development of precision medicine restoring the excitation/inhibition balance in rare mNDDs, based on clinical EEG measurement and patient-derived IPSC-based neurons and neuronal networks | Arianne Bouman |
| 16:05 | The EU-IMI Screen4Care project: shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies | Marianna Farnè |
| 16:20 | International collaboration for gaining knowledge on rare chromosome aberrations: Looking for partners | Aafke Engwerda |
| 16:35 | Study about the adult phenotype of rare genetic syndromes | Ariane Schmetz |
| 16:50 | Clustering to decide the lumping/splitting problem | Peter Robinson |
| 17:05 | Closing remarks |