Non classé
14 September 2022
Online Meeting

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

TimeTitle of the talkGenes/DisordersPresenter
14:00Introduction
14:10Successfully finalized collaborative projects and future studies with global DNAm studiesZNF142, QRICH1, DLG4Zeynep Tümer & Amanda Levy
14:22Refining the clinical and molecular spectrum of RASopathiesMAPK1, SPRED2, RRAS2, MRAS, SHOC2 and othersM Tartaglia
14:34Role of rare epimutations in neurodevelopmental disordersNeurodevelopmental disordersDmitrijs Rots
14:46Refining the clinical spectrum and DNAm signature of RATARSSPENFC Radio
14:58Antenatal DNA methylation profiling Antonio Vitobello
15:10GRIA disordersGRIA disordersAllan Bayat
15:22Congenital cerebellar malformationsCerebellar congenital malformations (with or without multisystemic involvement)Claudia Ciaccio
15:34Coffee break
15:45Solving unsolved Rett-like cases by SOLVE-RDRett-like phenotypeAlessandra Renieri
15:57Exome sequencing and autism spectrum disorder- diagnostic challengesAutism spectrum disorderLjubica Odak
16:09Mono- and bi-allelic variation of ABCA2 in individuals with different neurodevelopmental disordersABCA2Karit Reinson
16:21Expanded the knowledge of KBG syndrome:  characterization of the spinal neuroradiological findingsANKRD11Livia Garavelli
16:33Improving knowledge of the natural history of patients with Kosaki and Penttinen syndromesKosaki and Penttinen syndromesLaurence Faivre
16:45Green says go, Amber slow, Red spells woe: Assessing Risk in Clinical GeneticsMultiple disordersSally Ann Lynch
16:57Closing remarks