Join the WG Research of ERN ITHACA in this interactive meeting on the use of DNA methylation profiling in clinic! A variety of topics is explored and our aim is to build further synergies with the participants. Below the programme of the event.
PROGRAM:
14:00 14:15 Wellcome
Marco Tartaglia and Zeynep Tumer
14:15 14:45 Panel discussion: DNA methylation approach for rare diseases
Francesca Mari, Tinatin Tkemaladze and Andrea Accogli
14:45 15:00 Prenatal episignatures
Manon Suerink
15:00 15:15 DNA methylation signature of Mowat-Wilson syndrome (MOWS): a study on individuals with atypical presentation or uncertain genotypic correlation
Livia Garavelli, Stefano Giuseppe Caraffi
15:15 15:30 CHD3-related developmental delay-facial dysmorphism syndrome profiling with DNA methylation
Maud de Dieuleveult
15:30 15:45 Break
15:45 16:00 Genotype-Epiphenotype-Phenotype Analysis Using Episignatures to Decipher Disease Severity, Penetrance, Pleiotropy and Mechanisms in CHD8-Related Neurodevelopmental Disorder and Epigenomic and phenotypic characterization of DEGCAGS syndrome
Sofia Douzgou Houge
16:00 16:15 DNA methylation profiling of Malan syndrome
Andrea Ciolfi
16:15 16:30 METILPREC: A Spanish initiative for the identification and characterization of episignatures in infrequent genetic diseases
Jair Tenorio
16:30 17:00 Panel discussion: Use of Nanopore for DNA-methylation signature detection
Joris Vermeesch, Mathilde Geysens and Federico Ferraro
17:00 17:15 Closing remarks
Marco Tartaglia and Zeynep Tumer
Registration link: https://events.teams.microsoft.com/event/6ed80fe8-d406-4305-9d63-6cae952df79a@2461c129-d44f-406d-a778-d1a3c4c1527c