Sunday
2:00 pm - 9:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
7:40 pm - 9:30 pm
Keynote Session: Molecular Mechanisms and Biomarkers in Neurodevelopmental Disorders
Discussion Leader: Peter Kind (University of Edinburgh, United Kingdom)
7:40 pm - 7:45 pm
Introduction by Discussion Leader
7:45 pm - 8:15 pm
Craig Erickson (Cincinnati Childrens Hospital, United States)
"Individual Variation as the Foundation for Personalized Medicine in Fragile X Syndrome"
8:15 pm - 8:20 pm
Discussion
8:20 pm - 8:50 pm
Emily Osterweil (Boston Children's Hospital/Harvard Medical School, United States)
"Dysregulated Translation in Fragile X: The Long and Short of it"
8:50 pm - 8:55 pm
Discussion
8:55 pm - 9:25 pm
Michael Gandal (University of Pennsylvania, United States)
"Interpreting Genetic Risk for ASD Through the Lens of Neurodevelopment"
9:25 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Molecular and Cellular mechanisms of Fragile X Syndrome and Related Disorders
Discussion Leaders: Emily Osterweil (Boston Children's Hospital/Harvard Medical School, United States) and Sameer Bajikar (University of Virginia, United States)
9:00 am - 9:25 am
Joel Richter (University of Massachusetts Medical School, United States)
"Splicing Dysregulation in Fragile X Syndrome"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Peter Todd (University of Michigan, United States)
"CGG Repeats as Functional Elements and Drivers of Disease"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Debby Silver (Duke University Medical Center, United States)
"Developmental and Molecular Mechanisms Underlying DDX3X Syndrome"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
Leonard Kaczmarek (Yale University, United States)
"Slack Channels Regulate Neuronal RNA Translation by Forming a Complex with FMRP/CYFIP1"
11:40 am - 11:50 am
Discussion
11:50 am - 12:00 pm
Wenyi Feng (SUNY Upstate Medical University, United States)
"FMRP is a Genome Maintenance Protein that Prevents R-Loop-Induced Chromosome Breakage"
12:00 pm - 12:05 pm
Discussion
12:05 pm - 12:15 pm
Azalea Lee (Emory University, United States)
"Identifying Genetic Modifiers of Seizures in Fragile X Syndrome Through Whole Genome Sequencing and Functional Testing"
12:15 pm - 12:20 pm
Discussion
12:20 pm - 12:30 pm
Poster Previews
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
3:00 pm - 4:00 pm
The GRC Power Hourâ„¢
The GRC Power Hourâ„¢ is designed to address diversity and inclusion in the scientific workplace by providing a safe environment for informal and meaningful conversations amongst colleagues of all career stages. The program supports the professional growth of all members of our communities, including ethnicity, race and/or gender identity by providing an open forum for discussion and mentoring.
Organizers: Kemi Olugemo (Ultragenyx Pharmaceutical, United States) and Liz McCullagh (Oklahoma State University, United States)
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Advances in Genetics and Functional Genomics of ASDs
Discussion Leader: Michael Gandal (University of Pennsylvania, United States)
6:00 pm - 6:25 pm
Varun Warrier (University of Cambridge, United Kingdom)
"What is Autism? Using Genetics to Understand Heterogeneity in Autism"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 7:00 pm
Hyejung Won (University of North Carolina at Chapel Hill, United States)
"Massively Parallel Reporter Assays Identify Shared Neurobiology Among Psychiatric Disorders"
7:00 pm - 7:10 pm
Discussion
7:10 pm - 7:35 pm
Brett Trost (The Hospital for Sick Children, Canada)
"The Genomic Architecture of Autism: From Single Nucleotide Variants to Tandem Repeat Expansions"
7:35 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
Jade England (CHU Sainte-Justine/Université de Montréal, Canada)
"De Novo Cartography of the Genome and Inferring the Effects Sizes on Neurodevelopmental Symptoms"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Tuesday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Group Photo
9:00 am - 12:30 pm
Insights from Human Cellular Models of Fragile X and ASD
Discussion Leader: Marta Benedetti (Simons Foundation, United States)
9:00 am - 9:05 am
Introduction by Discussion Leader
9:05 am - 9:30 am
Alex Shcheglovitov (University of Utah, United States)
"Exploring the Impact of Rare Autism-Linked Mutations on Human Telencephalic Development Using Stem Cell-Derived Organoids"
9:30 am - 9:40 am
Discussion
9:40 am - 10:05 am
Lindy Barrett (Broad Institute, United States)
"Leveraging iPSC Models to Study Neural Development and Disease"
10:05 am - 10:15 am
Discussion
10:15 am - 10:45 am
Coffee Break
10:45 am - 11:10 am
Mustafa Sahin (Boston Children's Hospital, United States)
"Modeling TSC in Stem Cell Derived Neurons"
11:10 am - 11:20 am
Discussion
11:20 am - 11:30 am
Carissa Sirois (University of Wisconsin-Madison, United States)
"Loss of RACK1 Regulation by FMRP Contributes to Electrophysiological and Mitochondrial Deficits in Human Fragile X Syndrome Neurons"
11:30 am - 11:35 am
Discussion
11:35 am - 11:45 am
Savannah Kilpatrick (University Health Network, Canada)
"Spatial and Cell-Type Mapping of Excitatory and Inhibitory Deficits in Human Neural Organoids and Assembloids of the 15q13.3 Microdeletion Disorder"
11:45 am - 11:50 am
Discussion
11:50 am - 12:00 pm
James Deng (Salk Institute / University of California, San Diego, United States)
"The Role of Astrocyte BMP Signaling in Fragile X Syndrome Model Mice"
12:00 pm - 12:05 pm
Discussion
12:05 pm - 12:15 pm
General Discussion
12:15 pm - 12:30 pm
Poster Previews
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Cellular Heterogeneity in Fragile X and ASD
Discussion Leader: Eric Klann (New York University, United States)
6:00 pm - 6:25 pm
Laura Andreae (King's College London, United Kingdom)
"Cell-Type Specific Synaptic Alterations in Mouse Models for ASD"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 7:00 pm
Marco Pagani (IIT, Italy)
"Biological Subtyping of Autism via Cross-Species fMRI"
7:00 pm - 7:10 pm
Discussion
7:10 pm - 7:35 pm
Late-Breaking Topic
7:35 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
Michelle Bridi (West Virginia University, United States)
"Daily Oscillation of the Excitation and Inhibition Ratio is Disrupted in Fmr1 KO and BTBR Mice"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Sensory/Cognitive Dysfunction and Biomarkers in Fragile X and ASD
Discussion Leader: Michela Fagiolini (Boston Children's Hospital, United States)
9:00 am - 9:25 am
Ernest Pedapati (Cincinnati Children's Research Foundation / University of Cincinnati, United States)
"Constraints and Excesses: Lessons from Human Fragile X Brain Physiology"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Lauren Schmitt (Cincinnati Children's Hospital Medical Center, United States)
"A Paradigm Shifting View of Fragile X Syndrome: Leveraging Molecular Biomarkers to Rethink Intellectual Disability in this Single Gene Disorder"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Carlos Portera-Cailliau (David Geffen School of Medicine at UCLA, United States)
"Interneurons, Circuits, and Behavior in Fragile X Syndrome"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
Jason Lerch (University of Oxford, United Kingdom)
"Identifying Molecular Subtypes in Idiopathic Autism and Related Neurodevelopmental Disorders"
11:40 am - 11:50 am
Discussion
11:50 am - 12:00 pm
Graziella Di Cristo (Université de Montréal- CHU Ste.Justine Research Center, Canada)
"Sensory Input Modulation Rescues Alterations in Parvalbumin Interneuron Connectivity, Cortical Activity, Sensory Processing and Social Behavior Caused by Tsc1 Haploinsufficiency"
12:00 pm - 12:05 pm
Discussion
12:05 pm - 12:15 pm
Dimitri Dumontier (Cold Spring Harbor Laboratory, United States)
"Restoring Early Transient Connectivity Corrects Mature Circuit Dysfunctions in a Mouse Model of Fragile X Syndrome"
12:15 pm - 12:20 pm
Discussion
12:20 pm - 12:30 pm
Poster Previews
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Synapse and Circuit Mechanisms of FXS and ASD
Discussion Leader: Andreas Frick (INSERM U1215, France)
6:00 pm - 6:25 pm
Claudia Bagni (University of Lausanne, Switzerland)
"Alterations in Structural and Functional Plasticity in the Striatum in Neurodevelopmental Disorders"
6:25 pm - 6:35 pm
Discussion
6:35 pm - 7:00 pm
Pablo Castillo (Albert Einstein College of Medicine, United States)
"FMRP and Local Protein Synthesis at the Synapse"
7:00 pm - 7:10 pm
Discussion
7:10 pm - 7:35 pm
Ian Duguid (The University of Edinburgh, United Kingdom)
"Visuomotor Learning Deficits in a Mouse Model of Rett Syndrome: On the Road to Recovery"
7:35 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
Nitin Khandelwal (UT Southwestern Medical Center, United States)
"FOXP1 Regulates the Development of Spiny Projection Neurons and the Formation of Corticostriatal Circuits"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Thursday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Business Meeting
Nominations for the Next Vice Chair(s); Complete the GRC Evaluation Forms; Discuss Future Dates and Venue; Election of the Next Vice Chair(s)
9:00 am - 12:30 pm
Advances in Therapeutics and Clinical Trial Design
Discussion Leader: Michael Tranfaglia (FRAXA Research Foundation, United States)
9:00 am - 9:25 am
Steven Gray (University of Texas Southwestern Medical Center, United States)
"Gene Therapy for Fragile X Syndrome and Other Neurodevelopmental Disorders"
9:25 am - 9:35 am
Discussion
9:35 am - 10:00 am
Elizabeth Berry Kravis (Rush University Medical Center, United States)
"Development of Phosphodiesterase Inhibitors to Target Underlying Neural Mechanisms and Cognition in Fragile X Syndrome"
10:00 am - 10:10 am
Discussion
10:10 am - 10:40 am
Coffee Break
10:40 am - 11:05 am
Paul Wang (Simons Foundation, United States)
"Trials (and Tribulations) of Arbaclofen: Testing E:I Biomarkers, Refining Clinical Trial Design, Exploring New Endpoints, and Thinking About Efficacy"
11:05 am - 11:15 am
Discussion
11:15 am - 11:40 am
Kemi Olugemo (Ultragenyx Pharmaceutical, United States)
"Methodological Considerations for Clinical Trials in Angelman Syndrome"
11:40 am - 11:50 am
Discussion
11:50 am - 12:00 pm
Walker McKinney (Cincinnati Children's Hospital Medical Center, United States)
"Results from a Double-Blind, Randomized, Placebo-Control Trial of Lovastatin and Minocycline in Fragile X Syndrome"
12:00 pm - 12:05 pm
Discussion
12:05 pm - 12:15 pm
Robert Ring (Kaerus Bioscience, United States)
"Broad Therapeutic-Like Efficacy of a Novel BK Channel Modulator in a Genetic Mouse Model of Fragile X Syndrome"
12:15 pm - 12:20 pm
Discussion
12:20 pm - 12:30 pm
Poster Previews
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Body-Brain Interactions in ASD
Discussion Leader: Ellen Hoffman (Yale University, United States)
6:00 pm - 6:05 pm
Introduction by Discussion Leader
6:05 pm - 6:30 pm
Gaia Novarino (IST Austria, Austria)
"Defining the Phenotypic Landscape of Autism Spectrum Disorders at Single-Cell Resolution"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:05 pm
Alysson Muotri (UC San Diego, United States)
"Modeling and Treatment of ASD Using Human Brain Organoids"
7:05 pm - 7:15 pm
Discussion
7:15 pm - 7:25 pm
Katarzyna Mazur (University of Edinburgh, United Kingdom)
"Spinal Cord Processing of Touch and Pain in a Rat Model of SYNGAP1 Haploinsufficiency"
7:25 pm - 7:30 pm
Discussion
7:30 pm - 7:40 pm
Annalisa Savardi (IAMA Therapeutics, Italy)
"Selective NKCC1 Inhibitors for the Treatment of Fragile X and Brain Disorders with Defective Chloride Homeostasis"
7:40 pm - 7:45 pm
Discussion
7:45 pm - 7:55 pm
Lorena Galera López (University Pompeu Fabra, Spain)
"Searching for Molecular Signatures Sensitive to Cognition-Improving Pharmacological Treatments in Fragile X Syndrome"
7:55 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure