On September 14th, the WG Research of ERN ITHACA, chaired by Zeynep Tümer and Marco Tartaglia, will be hosting the next meeting dedicated to collaborative research projects. All members and collaborators were invited to present a project.
We have received a number of expressions of interest and below you will find the preliminary programme of the meeting.
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Please register following the link above if you want to attend this meeting.
Programme of the WG Research Meeting
| Time | Title of the talk | Genes/Disorders | Presenter |
| 14:00 | Introduction | ||
| 14:10 | Successfully finalized collaborative projects and future studies with global DNAm studies | ZNF142, QRICH1, DLG4 | Zeynep Tümer & Amanda Levy |
| 14:22 | Refining the clinical and molecular spectrum of RASopathies | MAPK1, SPRED2, RRAS2, MRAS, SHOC2 and others | M Tartaglia |
| 14:34 | Role of rare epimutations in neurodevelopmental disorders | Neurodevelopmental disorders | Dmitrijs Rots |
| 14:46 | Refining the clinical spectrum and DNAm signature of RATARS | SPEN | FC Radio |
| 14:58 | Antenatal DNA methylation profiling | Antonio Vitobello | |
| 15:10 | GRIA disorders | GRIA disorders | Allan Bayat |
| 15:22 | Congenital cerebellar malformations | Cerebellar congenital malformations (with or without multisystemic involvement) | Claudia Ciaccio |
| 15:34 | Coffee break | ||
| 15:45 | Solving unsolved Rett-like cases by SOLVE-RD | Rett-like phenotype | Alessandra Renieri |
| 15:57 | Exome sequencing and autism spectrum disorder- diagnostic challenges | Autism spectrum disorder | Ljubica Odak |
| 16:09 | Mono- and bi-allelic variation of ABCA2 in individuals with different neurodevelopmental disorders | ABCA2 | Karit Reinson |
| 16:21 | Expanded the knowledge of KBG syndrome: characterization of the spinal neuroradiological findings | ANKRD11 | Livia Garavelli |
| 16:33 | Improving knowledge of the natural history of patients with Kosaki and Penttinen syndromes | Kosaki and Penttinen syndromes | Laurence Faivre |
| 16:45 | Green says go, Amber slow, Red spells woe: Assessing Risk in Clinical Genetics | Multiple disorders | Sally Ann Lynch |
| 16:57 | Closing remarks |