I lavori si terranno all’Hotel Hilton di Sorrento. Per i soci delle Associazioni di Genitori la partecipazione è gratis, ovviamente a meno dei coffè break e lunch. Saluti 19th International Workshop on Fragile X and other Neurodevelopmental Disorders Wednesday, September 18, 2019 – Day 1 14:00-16:00 Arrival & Registration & Poster Set-Up (poster mounting Wednesday PM through Thursday AM) 16:00-16:15 Welcoming remarks Meeting Chair: Maria G. Miano (Italy) 16:15-17:00 Keynote Lecture Bekim Sadikovic (Canada) DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype 17:00-19:00 17:00-17:15 17:15-17:30 17:30-17:45 17:45-18:00 18:00-18:15 18:15-18:30 18:30-18:45 18:45-19:00 Fragile X Syndrome and FMR1 related disorders Chairs: Barbara Bardoni (France) and Gary J. Bassell (USA) Frank Kooy (Belgium) Single-Cell and Neuronal Network Alterations in an in vitro Model of Fragile X Syndrome Francesco Longo (USA) Cell type-specific disruption of cortico-striatal circuitry drives repetitive and perseverative behaviors in Fragile X Syndrome model mice Nisha Raj (USA) Cell-type-specific profiling of molecular defects in a human induced pluripotent stem cell model of Fragile X Syndrome Paul Hagerman (USA) Relationship between Fragile X protein (FMRP) and IQ using a quantitative FRET-based method for determining FMRP levels Pietro Chiurazzi (Italy) Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation Andrew McKechanie (UK) Functional magnetic resonance imaging in idiopathic intellectual impairment and Fragile X Syndrome Veronica Nobile (Italy) Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene Veronica Martínez-Cerdeño (USA) New discoveries in the pathology of FXTAS 19:00 20:00 Welcome cocktail 20:30 Dinner Thursday, September 19, 2019 – Day 2 07:00-08:00 Breakfast 08:00-09:30 08:00-08:15 08:15-08:30 08:30-08:45 08:45-09:00 09:00-09:15 09:15-09:30 Clinical studies in Fragile X Syndrome and X-linked IntellectualDisabilities Chairs: Flora Tassone (USA) and Vincent des Portes (France) Angela Peron (Italy, USA) Cardinal Signs of Snyder-Robinson Syndrome Aurore Curie (France) A French cohort of 187 patients with X-Linked Intellectual Disability (XLID): developmental trajectories, physical and cognitive assessment, impact on primary care-giver David R. Hessl (USA) NIH Toolbox Cognitive Battery Validation for Individuals with Intellectual Disabilities Alessandra Murgia (Italy) Gait analysis in Fragile X Syndrome Lisa Cordeiro (USA) Evaluating trajectories of developmental and behavioral outcome measures in Fragile X Syndrome (FXS) across the lifespan: informing treatment trial design in FXS Marta Arpone (Australia) Intellectual Functioning and Behavioural Features Associated with Mosaicism in Fragile X Syndrome 09:30-10:15 Coffee break 10:15-11:00 Keynote Lecture Chair: Charles E. Schwartz (USA) Hans van Bokhoven (The Netherlands) The Genetic landscape of Intellectual Disability: Extreme Genetic Heterogeneity Converging onto Shared Molecular and Cellular Disease Pathways 11:00-12:50 11:00-11:25 11:25-11:50 X-linked Intellectual Disability Chairs: Cheryl Shoubridge (Australia) and Hilde van Esch (Belgium) Hilde van Esch (Belgium) Defective DNA polymerase alfa-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly and hypogonadism Roger E. Stevenson (USA) Phenotypic Consequences of Duplication of Genes Associated with X- Linked Intellectual Disability 11:50-12:05 12:05-12:20 12:20-12:35 12:35-12:50 Mike Fields (Australia) Xq13 chromosomal duplications including the neurocognitive gene RLIM are associated with intellectual disability, recognizable facial features and epilepsy in males Giovanni Neri (Italy, USA) XLID: Phenotype of Female Carriers Cheryl Shoubridge (Australia) Heterozygous loss of function of IQSEC2 /Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females Anna Fliedner (Germany) Investigating the pathomechanisms of Borjeson-Forssman-Lehmann Syndrome 13:00-14:30 Lunch and relax time 14:30 16:25 14:30-14:55 14:55-15:10 15:10-15:25 15:25-15:40 15:40-15:55 15:55-16:10 16:10-16:25 Autosomal syndromic and non-syndromic Intellectual Disability - I Chairs: Anita Rauch (Switzerland) and Alessandra Murgia (Italy) Christiane Zweier (Germany) CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum Ype Elgersma (The Netherlands) Angelman Syndrome-associated mutations reveal the mechanism and importance of UBE3A nuclear targeting Paranchai Boonsawat (Switzerland) Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly and delineation of novel candidate genes Massimo Zollo (Italy) A genotype-phenotype correlation study in Microcephaly affected families carrying biallelic homozygous mutations (p.D106N) in the PRUNE-1 locus Anais Begemann (Switzerland) Clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and new insights into the underlying pathomechanism Gerarda Cappuccio (Italy) Genetic testing of a large cohort of patients with neurodevelopmental disorders Jean-Louis Mandel (France) Delineation of natural history and comorbidities in genetic forms of neurodevelopmental disorders through GenIDA, an international participatory database: identification of previously unreported respiratory problems in a large cohort study of Koolen-deVries Syndrome patients and initial analysis of response to antiepileptic drugs  16:30-18:00 Coffee break & Poster Session I (odd numbers) 18:00-19:55 18:00-18:25 18:25-18:40 18:40-18:55 18:55-19:10 19:10:19:25 19:25-19:40 19:40-19:55 Autosomal syndromic and non-syndromic Intellectual Disability- II Chairs: Christiane Zweier (Germany) and Frank Kooy (Belgium) Alexandre Reymond (Switzerland) Genome architecture and diseases: the 16p11.2 paradigm Amélie Piton (France) De novo missense variants in genes encoding proteins involved in mRNA repression, AGO1 and DDX6, in Intellectual Disability Danny Huylebroeck (The Netherlands) Multi-functional and multi-modal actions of the Mowat-Wilson Syndrome transcription factor ZEB2 Emanuela Leonardi (Italy) Mutations in PURA gene are related to Rett-like features, movement disorder, epilepsy and myelin function anomalies Irma Järvelä (Finland) Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population Nadif Kasri Nael (The Netherlands) How to measure E/I balance in IPSC-derived neuronal models. A case for CDH13 deficiency Madhura Bakshi (Australia) Application of Whole Genome Sequencing technology for molecular diagnosis of Intellectual Disability in a multiethnic cohort-initial experience and findings on reanalysis 20:30 Dinner  Friday, September 20, 2019 – Day 3 07:00-08:00 Breakfast 08:00-09:25 08:00-08:25 08:25-08:40 08:40-08:55 08:55-09:10 09:10-09:25 Autism Spectrum Disorders Chairs: Jean-Louis Mandel (France) and Pietro Chiurazzi (Italy) Yuri Bozzi (Italy) Aberrant somatosensory processing in mouse models of ASD Annette Schenck (The Netherlands) Kismet, the Drosophila orthologue of ID/ASD genes CHD7 and CHD8, is required for sleep integrity Gaelle Hayot (France) Autism Comorbidities: Role of CHD8 during the Development of the Enteric Nervous System Aditi ​Bhattacharya (India) Closing the loop on dysregulated translation in Autism: What does data from Neuroligin 3 rat model tell us? Emma Baker (Australia) Incomplete Silencing of Full Mutation mRNA from Males with Fragile X Syndrome is Associated with More Severe Autistic Features 09:30-11:00 Coffee break & Poster session II (even numbers) 11:00-11:45 Keynote lecture Chair: Claudia Bagni (Italy, Switzerland) Silvia Cappello (Germany) Modeling neurogenesis and neuronal migration with human cerebral organoids 11:45-13:10 11:45-12:10 12:10-12:25 12:25-12:40 12:40-12:55 12:55-13:10 Mechanisms of disease using animal models and human cells - I Chairs: David Nelson (USA) and Hans van Bokhoven (The Netherlands) Peng Jin (USA) The loss of Fragile X mental retardation protein alters the development of human forebrain organoids Edoardo Penna (Italy) Cystatin B involvement in synapse physiology of rodents' brain and human cerebral organoids David Picketts (Canada) Characterization of a mouse model of the NEDDFL Syndrome Bozena Kuzniewska (Poland) Mitochondria biogenesis in the synapse is supported by local translation Cecilia Laterza (Italy) Modelling Fragile X Syndrome with iPSCs  13:10-14:45 Lunch and relax time 14:45-16:15 14:45-15:00 15:00-15:15 15:15-15:30 15:30-15:45 15:45-16:00 16:00-16:15 Mechanisms of disease using animal models and human cells - II Chairs: David Picketts (Canada) and Yuri Bozzi (Italy) Arielle Valdez (USA) Novel role of Cdh1-APC as a regulator of FMRP and protein synthesis at the synapse Giorgia Pedini (Italy) FMRP affects glioblastoma progression regulating invasion-associated genes Małgorzata Drozd (France) The first spontaneous mouse model of epilepsy of infancy with migrating focal seizures Anne Gregor (Germany) Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophilamelanogaster. Ilaria Meloni (Italy) High efficiency of CRISPR/Cas9-mediated gene editing for the correction of pathogenic mutations in Rett spectrum disorders Francois Bolduc (Canada) Deciphering neurodiversity: Why translational analysis of Neurodevelopmental disorders requires a multimodal quantitative approach 16:15-20:30 Free time 20:30 Gala Dinner  Saturday, September 21, 2019 – Day 4 07:00-08:30 Breakfast 08:30-10:10 08:30-08:55 08:55-09:10 09:10-09:25 09:25-09:40 09:40-09:55 09:55-10:10 Therapeutic perspectives – I Chairs: Randi Hagerman (USA) and Roger E. Stevenson (USA) Daman Kumari (USA) Therapeutic Potential of CRISPR/Cas9 Mediated Deletion of CGG repeats for FMR1 Gene Reactivation in Fragile X Syndrome Christina Gross (USA) Dysregulated protein phosphorylation as biomarker and treatment target in Fragile X Syndrome Alberto Martire (Italy) Adenosine A2A receptor inhibition reverses synaptic and behavioral abnormalities in Fmr1 KO mice Heather Bowling (USA) New protein expression-based blood biomarkers for Fragile X Syndrome Vitaly Klyachko (USA) Understanding and correcting neuronal excitability defects in Fragile X Syndrome Maria G. Miano (Italy) Histone demethylase KDM5C is a HDACi-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders 10:10-10:45 Coffee break 10:45-12:25 10:45-11:00 11:00-11:15 11:15-11:30 11:30-11:55 11:55-12:10 12:10-12:25 THERAPEUTIC PERSPECTIVES – II Chairs: Christina Gross (USA) and Paul Hagerman (USA) Randi Hagerman (USA) Controlled Trial of Lovastatin and PILI Intervention in children with Fragile X Syndrome Flora Tassone (USA) Biomarkers predictive of metformin treatment in Fragile X Syndrome Poonnada Jiraanont (Thailand) Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children with Autism Spectrum Disorder Norifumi Shioda (Japan) G-quadruplexes as a therapeutic target for ATR-X Syndrome Cheryl Shoubridge (Australia) Short term estradiol treatment reduces seizure severity but does not improve cognitive measures in mouse models of congenital epilepsy and intellectual disability Lucia Verrillo (Italy) Phytocannabinoid treatment in a mouse model of West Syndrome with spontaneous seizures 12:25-13:15 Best paper/poster Award & Plans for the next Workshop Chair: Giovanni Neri (Italy, USA) 13:15-14:30 Lunch Box & Departure http://www.igb.cnr.it/19thxlid [email protected] 2 Inviato da iPhone