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