Event Program
Join us for four days of research presentations and discussions on Fragile X Syndrome and neurodevelopmental disorders. Our program features keynote lectures, mini-symposiums, scientific sessions, and poster presentations, bringing together researchers from around the world.
Day 1 (Monday 15 Sept):
14:00 - 16:00
Hotel Check-In and Conference registration
16:00 - 16:15
Welcome introduction
16:15 - 17:15
Mini-symposium 1: Excitation/inhibition balance measurements in ASD and monogenetic conditions
Chair: Hilgo Bruining
Speakers:
1. Shilpa Anand, Amsterdam UMC
"Atypical Modulation of Cortical Dynamics and Excitation-Inhibition Balance Across Resting-States Reflects Neurodevelopmental Disruption in SNAREopathies"
2. Additya Sharma, Vrije Universteit, Amsterdam
"Dimensionality Reduction of Quantitative EEG and Clinical Profiles to Uncover correlations with Rare Monogenic Neurodevelopmental Phenotypes"
3. Jan Sprengers (TBA)
4. Maria Candellero, Amsterdam UMC/VU Amsterdam
"An EEG index to monitor bumetanide effects in individual children with autism"
Chair: Hilgo Bruining
Speakers:
1. Shilpa Anand, Amsterdam UMC
"Atypical Modulation of Cortical Dynamics and Excitation-Inhibition Balance Across Resting-States Reflects Neurodevelopmental Disruption in SNAREopathies"
2. Additya Sharma, Vrije Universteit, Amsterdam
"Dimensionality Reduction of Quantitative EEG and Clinical Profiles to Uncover correlations with Rare Monogenic Neurodevelopmental Phenotypes"
3. Jan Sprengers (TBA)
4. Maria Candellero, Amsterdam UMC/VU Amsterdam
"An EEG index to monitor bumetanide effects in individual children with autism"
17:15 - 18:15
Keynote Lecture 1: Ernest Turro
"Discovery and characterization of RNU4-2 and RNU2-2-related disorders."
Intoduction by Frank Kooy
"Discovery and characterization of RNU4-2 and RNU2-2-related disorders."
Intoduction by Frank Kooy
18:30 - 20:00
Welcome reception
20:00 - 22:30
3-course Dinner
Day 2 (Tuesday 16 Sept):
07:00 - 08:30
Breakfast
08:30 - 09:30
Mini-symposium 2: Sensory Hypersensitivity in Fragile X Syndrome and Autism
Chair: Elizabeth McCullagh
Speakers:
1. Elizabeth McCullagh, Oklahoma State University
“Potential common mechanisms underlying sensory alterations in mouse models of autism”
2. Andreas Frick, University of Bordeaux, Inserm U1215
“Neural alterations in the neocortex underlie tactile perception changes in a mouse model of autism”
3. Alexander A. Chubykin, Purdue University
“FMRP Expression in interneurons partially rescues visual phenotypes in FXS mice”
4. Benjamin Auerbach, University of Illinois Urbana-Champaign
“Atypical sound processing in a rat model of Fragile X Syndrome”
Chair: Elizabeth McCullagh
Speakers:
1. Elizabeth McCullagh, Oklahoma State University
“Potential common mechanisms underlying sensory alterations in mouse models of autism”
2. Andreas Frick, University of Bordeaux, Inserm U1215
“Neural alterations in the neocortex underlie tactile perception changes in a mouse model of autism”
3. Alexander A. Chubykin, Purdue University
“FMRP Expression in interneurons partially rescues visual phenotypes in FXS mice”
4. Benjamin Auerbach, University of Illinois Urbana-Champaign
“Atypical sound processing in a rat model of Fragile X Syndrome”
09:30 - 11:00
Poster Session 1 and Coffee break
11:00 - 12:30
Session 1: Advanced Phenotyping and potential therapies in FXS
Chair: Claudia Bagni and David Nelson
Speakers:
Chair: Claudia Bagni and David Nelson
Speakers:
1. Mathijs van der Lei, University of Antwerp
“LMT-MouseKing as novel platform for next-generation mouse phenotyping and drug screening in Fragile X syndrome”
2. Iryna Ethell, University of California Riverside
“Can adult gene re-activation normalize EEG and behaviors in mouse model of FXS?”
3. Kirsten Johnson, Fragile X International
“Fragile X International: Enabling Research and Clinical Guidelines”
4. Pietro Chiurazzi, Turin University, Rome "La Sapienza" and Catholic University
“Matrix Metalloproteinase-9 and PeriNeuronal Nets as New Therapeutic Targets for Fragile X Syndrome (FXS)”
5. Flora Tassone, UC Davis
“Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations”
12:30 - 13:30
Lunch and networking
13:30 - 15:00
Session 2: Genetics Mechanisms of NDD
Chair: David Picketts and Frank Jacobs
Speakers:
Chair: David Picketts and Frank Jacobs
Speakers:
1. Daman Kumari, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health
“A Proximity Labeling Screen Reveals Potential New Regulators of FMR1 gene silencing”
2. Elisabetta Tabolacci, Catholic University of Rome
“FMR1 RNA interaction with DNMT1 blocks DNA methylation at the FMR1 locus”
3. Michael Hart, University of Pennsylvania
“KMT5B/set-4 regulates experience-dependent neuron remodeling through expression of SYNGAP1/gap-2 and ANK2/unc-44”
4. Marina Boon, Radboud University Medical Center
“Haploinsufficiency of RNA-binding protein ELAVL2 causes a novel rare heterogeneous neurodevelopmental disorder”
5. Maija Castrén, University of Helsinki
“Contribution of astrocyte-mediated mechanisms to the neurobiology of fragile X syndrome”
6. Udai Pandey, University of Pittsburgh Medical Center
“Interventional genomics in a rare neurodevelopmental syndrome”
15:00 - 17:00
Beach Volleyball and Sandcastle building
17:00 - 18:00
Mini symposium 3: Keep it balanced! The consequences of SETBP1 dosage alterations on brain development
Chair: Alessandro Sessa, Carl Ernst
Speakers:
1. Alessandro Sessa, San RaPaele Hospital
“Revealing SETBP1 functions through experimental modelling Schinzel-Giedion Syndrome”
2. Carl Ernst, McGill University
“SETBP1 dosage syndromes and an Nof1 antisense oligonucleotiode clinical trial for Schinzel-Giedion Syndrome”
3. Maggie Wong, Max Planck Institute for Psycholinguistics
“Deciphering the neurobiological pathways involved in heterogenous SETBP1-haploinsufficiency disorder using human brain organoids and transcriptomics”
4. Maria Chahrour, University of Texas Southwestern Medical Center
“Investigating the molecular mechanisms underlying SETBP1 haploinsuPiciency disorder”
Chair: Alessandro Sessa, Carl Ernst
Speakers:
1. Alessandro Sessa, San RaPaele Hospital
“Revealing SETBP1 functions through experimental modelling Schinzel-Giedion Syndrome”
2. Carl Ernst, McGill University
“SETBP1 dosage syndromes and an Nof1 antisense oligonucleotiode clinical trial for Schinzel-Giedion Syndrome”
3. Maggie Wong, Max Planck Institute for Psycholinguistics
“Deciphering the neurobiological pathways involved in heterogenous SETBP1-haploinsufficiency disorder using human brain organoids and transcriptomics”
4. Maria Chahrour, University of Texas Southwestern Medical Center
“Investigating the molecular mechanisms underlying SETBP1 haploinsuPiciency disorder”
18:00 - 19:00
Keynote Lecture 2: Lynne Maquat
"FMRP drives mRNP targets into translationally silenced complexes: Implications for FXS"
Introduction by Jozef Gecz
"FMRP drives mRNP targets into translationally silenced complexes: Implications for FXS"
Introduction by Jozef Gecz
19:00 - 20:00
Personal time
20:00 - 22:30
Dinner
Day 3 (Wednesday 17 Sept):
07:00 - 08:30
Breakfast
08:30 - 09:30
Mini symposium 4: Double-Blind, Placebo-Controlled Trial of Metformin in Individuals with Fragile X Syndrome (FXS)
Chair: Sarah Lippé
Speakers:
1. Randi Hagerman, University of California Davis and François Bolduc, University of Alberta
“Mechanisms of Action, Safety, and Results of the Trial on Metabolism and Behavioral Measures”
2. Leonard Abbeduto, MIND Institute, University of California Davis Health
“Baseline Characteristics of Participants and Effects of Metformin on Language”
3. Sarah Lippé, University of Montreal, CHU Sainte-Justine
“Baseline Characteristics of Participants and Effects of Metformin on Brain Dynamics Measured by EEG”
Chair: Sarah Lippé
Speakers:
1. Randi Hagerman, University of California Davis and François Bolduc, University of Alberta
“Mechanisms of Action, Safety, and Results of the Trial on Metabolism and Behavioral Measures”
2. Leonard Abbeduto, MIND Institute, University of California Davis Health
“Baseline Characteristics of Participants and Effects of Metformin on Language”
3. Sarah Lippé, University of Montreal, CHU Sainte-Justine
“Baseline Characteristics of Participants and Effects of Metformin on Brain Dynamics Measured by EEG”
09:30 - 11:00
Poster Session 2 and Coffee break
11:00 - 12:00
Session 3: Insights in the pathogenesis of NDD
Chair: Flora Tassone and Hans van Bokhoven
Speakers:
Chair: Flora Tassone and Hans van Bokhoven
Speakers:
1. Mariam Marie Chellali, Istituto Italiano di Tecnologia
“Negr1: a new possible convergent hub for autistic spectrum disorder”
2. Karun Singh, University Health Network,
"The sodium channel SCN2A regulates cortical excitatory and inhibitory neurogenesis"
3. Lisa Rahm, Radboud University Medical Center,
"Cell-Type-Specific Pathology in Myotonic Dystrophy Type 1: A Human iPSC-Based Investigation of Neurons and Astrocytes"
4. Saba Montazaribarforoushi, Adelaide University,
"UPF1 variants cause intellectual disability via mechanisms convergent with Fragile X syndrome"
12:00 - 13:00
Lunch and networking
13:00 - 16:30
Naturalis Biodiversity Center
16:30 - 17:30
Mini-symposium 5: Cross-Species Insights into the Neural and Molecular Mechanisms of Autism
Chair: Ourania Semelidou
Speakers:
1. Michael P. Hart, Perelman School of Medicine, University of Pennsylvania
“Autism-associated gene function in C. elegans circuits and behaviors”
2. Eliana D. Weisz, Perelman School of Medicine, University of Pennsylvania
"Metabolomics as a tool to evaluate neurophysiologic changes and treatment responses in the Drosophila Model of FXS"
3. Anna Letizia Allegra Mascaro, National Research Council, Neuroscience Institute
"Dynamic Network Changes Across Development and Brain State in Shank3b+/- Mice"
4. Ourania Semelidou, University of Bordeaux, INSERM U1215
"Uncovering the neural basis of perceptual alterations in the Fmr1-/y mouse model of autism"
Chair: Ourania Semelidou
Speakers:
1. Michael P. Hart, Perelman School of Medicine, University of Pennsylvania
“Autism-associated gene function in C. elegans circuits and behaviors”
2. Eliana D. Weisz, Perelman School of Medicine, University of Pennsylvania
"Metabolomics as a tool to evaluate neurophysiologic changes and treatment responses in the Drosophila Model of FXS"
3. Anna Letizia Allegra Mascaro, National Research Council, Neuroscience Institute
"Dynamic Network Changes Across Development and Brain State in Shank3b+/- Mice"
4. Ourania Semelidou, University of Bordeaux, INSERM U1215
"Uncovering the neural basis of perceptual alterations in the Fmr1-/y mouse model of autism"
17:30 - 18:30
Session 4: Novel signalling pathways in FXS and ASD
Chair: Francesco Longo and Peng Jin
Speakers:
Chair: Francesco Longo and Peng Jin
Speakers:
1. Niaz Mahmood, McGill University,
“Abnormal insulin signaling in Fragile X Syndrome pathology”
2. Claudio D’Incal, University of Antwerp,
"A kinase array reveals aberrant ADRB2 signaling in fragile X syndrome mice"
3. Claudia Bagni, Universities of Lausanne and Rome Tor Vergata,
"Striatal alterations in structural and functional plasticity in neurodevelopmental disorders"
4. Alexandra Anding, University of Nebraska Medical Center,
"The role of astrocytes in sleep impairments in FXS"
18:30 - 19:30
Keynote Lecture 3: Evdokia Anagnostou
"Translating E:I balance variability to meaningful clinical treatments in children and youth with ASD"Introduction by Ilse Gantois
"Translating E:I balance variability to meaningful clinical treatments in children and youth with ASD"Introduction by Ilse Gantois
19:30 - 20:00
Personal time
20:00
Beach Dinner
Day 4 (Thursday 18 Sept):
07:00 - 08:30
Breakfast
08:30 - 09:30
Mini-symposium 6: ATR-X Syndrome and Related Disorders
Chair: Norifumi Shioda
Speakers:
1. Richard J Gibbons, University of Oxford
"Understanding how ATRX mutations perturb gene expression"
2. David Picketts, Ottawa Hospital Research Institute
"The chromatin remodeler ATRX regulates entorhinal cortex arealization, organization and circuitry with the hippocampus"
3. Takahito Wada, Kyoto University Graduate School of Medicine
"An exploratory physician-initiated clinical trial of 5-ALA for ATR-X syndrome in Japan"
4. Norifumi Shioda, Kumamoto University
"The neurological roles of G-quadruplexes in ATR-X syndrome"
Chair: Norifumi Shioda
Speakers:
1. Richard J Gibbons, University of Oxford
"Understanding how ATRX mutations perturb gene expression"
2. David Picketts, Ottawa Hospital Research Institute
"The chromatin remodeler ATRX regulates entorhinal cortex arealization, organization and circuitry with the hippocampus"
3. Takahito Wada, Kyoto University Graduate School of Medicine
"An exploratory physician-initiated clinical trial of 5-ALA for ATR-X syndrome in Japan"
4. Norifumi Shioda, Kumamoto University
"The neurological roles of G-quadruplexes in ATR-X syndrome"
09:30 - 10:00
Coffee break
10:00 - 11:30
Session 5: Advanced Phenotyping and potential therapies in NDD
Chair: Pietro Chiurazzi and Bert de Vries
Speakers:
Chair: Pietro Chiurazzi and Bert de Vries
Speakers:
1. Anne McKinney, McGill University,
“Investigating novel therapies to the rare neurodevelopmental disorder Christianson Syndrome”
2. Ann Gregor, University of Bern,
"Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency"
3. Cong Loc Dang, McGill University,
"Synaptopodin: A potential therapeutic target for autism spectrum disorders"
4. Jolijn Verseput, Radboud University Medical Center,
"3D facial phenotype analysis in three neurodevelopmental disorders"
5. Laura Marsal-García, RMcGill University,
"Metformin as a therapeutic intervention for Phelan-McDermid syndrome"
6. Bert de Vries, Radboud University Medical Center,
"PhenomAD-NDD: revealing comorbidities in 51,227 children with neurodevelopmental disorders"
11:30 - 12:15
Poster awards & Planning of next FXS-NDD meeting in 2027
12:15 - 14:00
Lunch and departure
Note: Private meeting room available whole day on Tuesday and Wednesday
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