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.
Discovery and characterization of RNU4-2 and RNU2-2-related disorders.
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: Genetics of Neurodevelopmental Disorders
12:30 - 13:30
Lunch and networking
13:30 - 15:00
Session 2: New pathways in FraX
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
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, François Bolduc, University of California Davis
“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, François Bolduc, University of California Davis
“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: Molecular basis of Neurodevelopmental Disorders
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: Epigenetics in FXS and other Neurodevelopmental Disorders
18:30 - 19:30
Keynote Lecture 3
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: Clinical Studies & trials
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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