{"id":6342,"date":"2024-10-31T19:16:45","date_gmt":"2024-10-31T18:16:45","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=events&p=6342"},"modified":"2024-10-31T19:16:46","modified_gmt":"2024-10-31T18:16:46","slug":"ern-ithaca-meeting-on-dnam-profiling-in-clinic","status":"publish","type":"events","link":"https:\/\/ern-ithaca.eu\/fr\/events-news\/upcoming-events\/ern-ithaca-meeting-on-dnam-profiling-in-clinic\/","title":{"rendered":"ERN ITHACA Meeting on DNAm profiling in clinic"},"content":{"rendered":"

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.<\/strong>\u00a0<\/p>\n\n\n\n

PROGRAM<\/strong>:<\/p>\n\n\n\n

14:00 14:15 Wellcome<\/strong>\u00a0
Marco Tartaglia and Zeynep Tumer<\/em> \u00a0<\/p>\n\n\n\n

14:15 14:45 Panel discussion: DNA methylation approach for rare diseases<\/strong>\u00a0\u00a0
Francesca Mari, Tinatin Tkemaladze and Andrea Accogli<\/em> \u00a0<\/p>\n\n\n\n

14:45 15:00 Prenatal episignatures<\/strong>\u00a0
Manon Suerink<\/em>\u00a0<\/p>\n\n\n\n

15:00 15:15 DNA methylation signature of Mowat-Wilson syndrome (MOWS): a study on individuals with atypical presentation or uncertain genotypic correlation<\/strong>\u00a0
Livia Garavelli, Stefano Giuseppe Caraffi<\/em> \u00a0<\/p>\n\n\n\n

15:15 15:30 CHD3-related developmental delay-facial dysmorphism syndrome profiling with DNA methylation<\/strong>\u00a0
Maud de Dieuleveult<\/em>\u00a0<\/p>\n\n\n\n

15:30 15:45 Break<\/strong>  <\/p>\n\n\n\n

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<\/strong>\u00a0\u00a0
Sofia Douzgou Houge<\/em> \u00a0<\/p>\n\n\n\n

16:00 16:15 DNA\u202fmethylation\u202fprofiling\u202fof Malan\u202fsyndrome<\/strong>\u00a0
Andrea Ciolfi<\/em>\u00a0<\/p>\n\n\n\n

16:15 16:30 METILPREC: A Spanish initiative for the identification and characterization of episignatures in infrequent genetic diseases<\/strong>\u00a0
Jair Tenorio<\/em> \u00a0<\/p>\n\n\n\n

16:30 17:00 Panel discussion: Use of Nanopore for DNA-methylation signature detection\u00a0<\/strong>\u00a0
Joris Vermeesch, Mathilde Geysens and Federico Ferraro<\/em> \u00a0<\/p>\n\n\n\n

17:00 17:15 Conclusion<\/strong>\u00a0
Marco Tartaglia and Zeynep Tumer<\/em>\u00a0<\/p>\n\n\n\n

Registration link:\u00a0\u00a0https:\/\/events.teams.microsoft.com\/event\/6ed80fe8-d406-4305-9d63-6cae952df79a@2461c129-d44f-406d-a778-d1a3c4c1527c<\/a><\/p>","protected":false},"featured_media":0,"template":"","categories":[],"tags":[],"class_list":["post-6342","events","type-events","status-publish","hentry"],"acf":[],"yoast_head":"\nERN ITHACA Meeting on DNAm profiling in clinic - ERN ITHACA<\/title>\n<meta name=\"robots\" content=\"noindex, follow\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN ITHACA Meeting on DNAm profiling in clinic - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"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. 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