10 December 2022
Budapest, Hungary

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
14:00Short Introduction
14:05LRFN5 locus structure is associated with autism in males | Gunnar Douzgos Houge
14:20Inherited defects of the elastic fiber: an international consortium | Bert Callewaert
14:35Clinical prospects of long-read sequencing in structural variant analysis | Steffen Moeller-Larsen
14:50Functional studies of rare, genetic synaptopathies | Amanda Levy
15:05GRIA genes, AMPA receptor and patch-clamping | Allan Bayat
15:20EpiProspects: Evaluating prospects of epigenome profiling in unsolved syndromal cases | Julia Schulze-Hentrich
15:50BRAINmodel: 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
16:05The EU-IMI Screen4Care project: shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies | Marianna Farnè
16:20International collaboration for gaining knowledge on rare chromosome aberrations: Looking for partners | Aafke Engwerda
16:35Study about the adult phenotype of rare genetic syndromes | Ariane Schmetz
16:50Clustering to decide the lumping/splitting problem | Peter Robinson
17:05Closing remarks