19th International Workshop on Fragile X and other Neurodevelopmental Disorders

workshop
Data: 19 Settembre 2019 - 21 Settembre 2019

Luogo: Hotel Hilton Sorrento Palace  |  Città: Sorrento

18 - 21 settembre 2019
19th International Workshop on Fragile X and other Neurodevelopmental Disorders
c/o Hotel Hilton Sorrento Palace - Via Sant´Antonio 13, Sorrento

 

 

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
Fragile X Syndrome and FMR1 related disorders
Chairs: Barbara Bardoni (France) and Gary J. Bassell (USA)

17:00-17:15
Frank Kooy (Belgium)
Single-Cell and Neuronal Network Alterations in an in vitro
Model of Fragile X Syndrome

17:15-17:30
Francesco Longo (USA)
Cell type-specific disruption of cortico-striatal circuitry drives repetitive
and perseverative behaviors in Fragile X Syndrome model mice

17:30-17:45
Nisha Raj (USA)
Cell-type-specific profiling of molecular defects in a human induced pluripotent stem cell model of Fragile X Syndrome

17:45-18:00
Paul Hagerman (USA)
Relationship between Fragile X protein (FMRP) and IQ using a quantitative FRET-based method for determining FMRP levels

18:00-18:15
Pietro Chiurazzi (Italy)
Methylated premutation of the FMR1 gene in three sisters:
correlating CGG expansion and epigenetic inactivation

18:15-18:30
Andrew McKechanie (UK)
Functional magnetic resonance imaging in idiopathic intellectual
impairment and Fragile X Syndrome

18:30-18:45
Veronica Nobile (Italy)
Altered mitochondrial function in cells carrying a premutation or
unmethylated full mutation of the FMR1 gene

18:45-19:00
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
Clinical studies in Fragile X Syndrome and X-linked Intellectual
Disabilities
Chairs: Flora Tassone (USA) and Vincent des Portes (France)

08:00-08:15
Angela Peron (Italy, USA)
Cardinal Signs of Snyder-Robinson Syndrome

08:15-08:30
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

08:30-08:45
David R. Hessl (USA)
NIH Toolbox Cognitive Battery Validation for Individuals with
Intellectual Disabilities

08:45-09:00
Alessandra Murgia (Italy)
Gait analysis in Fragile X Syndrome

09:00-09:15
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

09:15-09:30
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
X-linked Intellectual Disability
Chairs: Cheryl Shoubridge (Australia) and Hilde van Esch (Belgium)

11:00-11:25
Hilde van Esch (Belgium)
Defective DNA polymerase alfa-primase leads to X-linked intellectual
disability associated with severe growth retardation, microcephaly and
hypogonadism

11:25-11:50
Roger E. Stevenson (USA)
Phenotypic Consequences of Duplication of Genes Associated with
X- Linked Intellectual Disability

11:50-12:05
Mike Fields (Australia)
Xq13 chromosomal duplications including the neurocognitive gene RLIM
are associated with intellectual disability, recognizable facial features and epilepsy in males

12:05-12:20
Giovanni Neri (Italy, USA)
XLID: Phenotype of Female Carriers


12:20-12:35
Cheryl Shoubridge (Australia)
Heterozygous loss of function of IQSEC2 /Iqsec2 leads to increased
activated Arf6 and severe neurocognitive seizure phenotype in females


12:35-12:50
Anna Fliedner (Germany)
Investigating the pathomechanisms of Borjeson-Forssman-Lehmann
Syndrome

13:00-14:30 Lunch and relax time

14:30 16:25
Autosomal syndromic and non-syndromic Intellectual Disability - I
Chairs: Anita Rauch (Switzerland) and Alessandra Murgia (Italy)

14:30-14:55
Christiane Zweier (Germany)
CTCF variants in 39 individuals with a variable neurodevelopmental
disorder broaden the mutational and clinical spectrum


14:55-15:10
Ype Elgersma (The Netherlands)
Angelman Syndrome-associated mutations reveal the mechanism
and importance of UBE3A nuclear targeting

15:10-15:25
Paranchai Boonsawat (Switzerland)
Elucidation of the phenotypic spectrum and genetic landscape in primary
and secondary microcephaly and delineation of novel candidate genes

15:25-15:40
Massimo Zollo (Italy)
A genotype-phenotype correlation study in Microcephaly affected
families carrying biallelic homozygous mutations (p.D106N) in the
PRUNE-1 locus

15:40-15:55
Anais Begemann (Switzerland)
Clinical and molecular spectrum of the novel CYFIP2-related
neurodevelopmental disorder and new insights into the underlying
pathomechanism

15:55-16:10
Gerarda Cappuccio (Italy)
Genetic testing of a large cohort of patients with neurodevelopmental
disorders


16:10-16:25
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
Autosomal syndromic and non-syndromic Intellectual Disability- II
Chairs: Christiane Zweier (Germany) and Frank Kooy (Belgium)

18:00-18:25
Alexandre Reymond (Switzerland)
Genome architecture and diseases: the 16p11.2 paradigm

18:25-18:40
Amélie Piton (France)
De novo missense variants in genes encoding proteins involved in mRNA
repression, AGO1 and DDX6, in Intellectual Disability

18:40-18:55
Danny Huylebroeck (The Netherlands)
Multi-functional and multi-modal actions of the Mowat-Wilson Syndrome
transcription factor ZEB2

18:55-19:10
Emanuela Leonardi (Italy)
Mutations in PURA gene are related to Rett-like features, movement
disorder, epilepsy and myelin function anomalies

19:10:19:25
Irma Järvelä (Finland)
Phenotypic spectrum associated with a CRADD founder variant
underlying frontotemporal predominant pachygyria in the Finnish
population

19:25-19:40
Nadif Kasri Nael (The Netherlands)
How to measure E/I balance in IPSC-derived neuronal models. A case for
CDH13 deficiency

19:40-19:55
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

 

Luogo
Via Sant'Antonio, 13, 80067 Sorrento NA

 

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Altre date


  • Da 19 Settembre 2019 a 21 Settembre 2019

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