Organised by the ERN-ITHACA Research Workgroup, this online workshop will present 12 open calls for collaboration from the ERN and will discuss how to strengthen interactions and identify possible synergies.Â
🗓️ Date & Time: 22 October, 14:00-17:30
đź“Ť Location: Online
Registration form: https://forms.office.com/e/EXFr6CCJ6w
Meeting Program
14:00 Marco Tartaglia and Zeynep Tumer, Chairs of the ERN-ITHACA Workgroup
Welcome
14:05 Silvestre Cuinat, Lyon, France
RNU4ATAC-opathies
14:20 Alessandro De Falco, Naples, Italy
9q34.11 microduplications encompassing SET gene are associated with neurodevelopmental disorder and recurrent dysmorphisms
14:35 Gianluca Contrò, Livia Garavelli, Reggio Emilia, Italy
ZMYND11-related disorder: clinical phenotype and DNA methylation profiling”
14:50 Barbara Vona, Göttingen, Germany
Bridging Known and Novel Disorders: Genetic and Collaborative Advances in the 55LCC Complex
15:05 Juan dario Ortigoza Escobar, Barcelona, Spain
GPCR pathway genes and neurodevelopmental disorders
15:20 Jamal Ghoumid, Lille, France
Prenatal Detection and Longitudinal Management of Blepharocheilodontic Syndrome: An Expanded Clinical Framework for CDH1 and CTNND1 Disorders
15:35 Break
15:45 Andrea Superti-Furga, Sheila Unger, Losanna, Swizerland & Livia Garavelli, Francesca Peluso, Reggio Emilia, Italy
Expanding the phenotypic and genotypic spectrum of TIMES syndrome, a LRRC8C-related disorder.
16:00 Laura Batlle MasĂł, Barcelona, Spain
Exploring the immune phenotype of patients with ZNF148 genetic variants
16:15 Alban Ziegler, Angers, France
LMBRD2 natural history: a path toward developing personalized antisense oligonucleotides.
16:30 Valérie Chu, Montréal, Canada
Natural History of RARB-related disorders: Towards Clinical Trials
16:45 Uriel Bensabath, Paris, France
Wiedemann-Steiner syndrome in adults
17:00 André Miguel Ramos Travessa, André Abreu, Lisboa, Portugal
Clinical and molecular characterization with genotype-phenotype correlation in patients with acrodysostosis
17:15 Marco Tartaglia and Zeynep Tumer
Closing remarks