Sunday
4:00 pm - 8:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Site Staff / Welcome from the GRC Chair
7:40 pm - 9:30 pm
Keynote Session: Rescue Studies from Genes to Drugs
Discussion Leader: Louis Reichardt (Simons Foundation, USA)
7:40 pm - 7:45 pm
Introduction by Discussion Leader
7:45 pm - 8:10 pm
Mark Bear (Massachusetts Institute of Technology, USA)
"Fragile X Pathophysiology and Treatment: Looking Back, Looking Forward"
8:10 pm - 8:25 pm
Discussion
8:25 pm - 8:50 pm
Adrian Bird (University of Edinburgh, United Kingdom)
"The Molecular Basis of Rett Syndrome"
8:50 pm - 9:05 pm
Discussion
9:05 pm - 9:20 pm
Laura Mamounas (National Institute of Neurological Disorders and Stroke, NIH, USA) and Tracy King (National Institutes of Health, USA)
"Future Directions in Fragile X Research: The Role of NIH"
9:20 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Convergence from Genes to Phenotype
Discussion Leader: Emily Osterweil (University of Edinburgh, United Kingdom)
9:00 am - 9:30 am
Brian Kaspar (AveXis, Inc., USA)
"Gene Therapy for Neurological Disorders"
9:30 am - 9:45 am
Discussion
9:45 am - 10:15 am
Jennifer Darnell (The Rockefeller University, USA)
"Translational Control by FMRP in CA1, Purkinje and Cerebellar Granule Neurons: Targets and Mechanism"
10:15 am - 10:30 am
Discussion
10:30 am - 11:00 am
Coffee Break
11:00 am - 11:30 am
Eric Klann (New York University, USA)
"Phenotypes Generated by Cell Type-Specific Deletion of Fmr1 and Tsc2"
11:30 am - 11:45 am
Discussion
11:45 am - 11:55 am
Simon Chen (University of Ottawa, Canada)
"Investigating Delayed Motor Learning in 16p11.2+/- Mouse Model of Autism via In Vivo Two-Photon Imaging"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
Khaleel Razak (University of California, Riverside, USA)
"EEG Based Phenotypes in a Mouse Model of Fragile X Syndrome"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Aditi Deshpande (University of California, San Francisco, USA)
"Delineating Mechanisms Underlying Cellular Phenotypes in 16p11.2 iPSC-Derived Neurons"
12:25 pm - 12:30 pm
Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:30 pm
Free Time
3:00 pm - 4:00 pm
Power Hour
The GRC Power Hour is an optional informal gathering open to all meeting participants. It is designed to help address the challenges women face in science and support the professional growth of women in our communities by providing an open forum for discussion and mentoring.
Organizer: Jennifer Darnell (The Rockefeller University, USA)
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 8:00 pm
Clinical Trials: In Search of Treatments for the ASDs
Discussion Leader: Elizabeth Berry Kravis (Rush University Medical Center, USA)
6:00 pm - 6:30 pm
Linmarie Sikich (Duke University, USA)
"Does Oxytocin Really Make a Long Term Functional Difference for People with ASD?"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:10 pm
Pilar Trelles (Icahn School of Medicine at Mount Sinai, USA)
"Developing New Treatments in Phelan McDermid Syndrome"
7:10 pm - 7:20 pm
Discussion
7:20 pm - 7:50 pm
Mustafa Sahin (Boston Children's Hospital, USA)
"Translational and Clinical Studies in Tuberous Sclerosis"
7:50 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
Convergence of Cellular Pathophysiology
Discussion Leader: Kimberly Huber (University of Texas Southwestern Medical Center, USA)
9:00 am - 9:30 am
Peter Scheiffele (Biozentrum, University of Basel, Switzerland)
"Synaptic Signalling for Social Novelty Processing in Mice"
9:30 am - 9:45 am
Discussion
9:45 am - 10:15 am
Claudia Bagni (University of Lausanne, Switzerland)
"Protein Homeostasis in Fragile X Syndrome"
10:15 am - 10:30 am
Discussion
10:30 am - 11:00 am
Coffee Break
11:00 am - 11:30 am
Emily Osterweil (University of Edinburgh, United Kingdom)
"Problematic Proteostasis in Fragile X and Autism"
11:30 am - 11:45 am
Discussion
11:45 am - 11:55 am
Aditi Bhattacharya (Center for Brain Development and Repair, InStem, India)
"Closing the Loop on Troubled Translation: Letters from Neuroligin 3 and Neurexin 1 Rat Models"
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
M. Chiara Manzini (The George Washington University, USA)
"Male-Specific Signaling and Sex Bias in Neurodevelopmental Disorders"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Sam Booker (University of Edinburgh, United Kingdom)
"Dendritic Spine Structure and Function in a Mouse Model of Fragile X Syndrome"
12:25 pm - 12:30 pm
Discussion
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
Circuit Biology: Local Connectivity
Discussion Leader: Carlos Portera-Cailliau (David Geffen School of Medicine at UCLA, USA)
6:00 pm - 6:30 pm
Anis Contractor (Northwestern University, USA)
"Correction of Synaptic and Network Properties in Fragile X Mice"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:10 pm
Vitaly Klyachko (Washington University School of Medicine, USA)
"Ion Channel Dysfunction and Excitability Defects in Fragile X Syndrome"
7:10 pm - 7:20 pm
Discussion
7:20 pm - 7:50 pm
Gavin Rumbaugh (The Scripps Research Institute, USA)
"Cortical Processing of Sensory Signals in a Model of Syngap1 Haploinsufficiency"
7:50 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
Circuit Biology: Local and Long Range Connectivity
Discussion Leader: Jennifer Darnell (The Rockefeller University, USA)
9:00 am - 9:30 am
Kevin Pelphrey (The George Washington University, USA)
"Toward Precision Treatments for Autism Spectrum Disorders"
9:30 am - 9:45 am
Discussion
9:45 am - 10:15 am
Kimberly Huber (University of Texas Southwestern Medical Center, USA)
"Local Circuit Correlates of the Abnormal EEG in Fragile X Syndrome"
10:15 am - 10:30 am
Discussion
10:30 am - 11:00 am
Coffee Break
11:00 am - 11:30 am
Carlos Portera-Cailliau (David Geffen School of Medicine at UCLA, USA)
"Abnormal Sensory Processing and Parvalbumin Neuron Dysfunction in Fragile X Syndrome"
11:30 am - 11:45 am
Discussion
11:45 am - 12:15 pm
Leonard Kaczmarek (Yale University, USA)
"Regulation of mRNA Translation by FMRP-Potassium Channel Interactions"
12:15 pm - 12:30 pm
Discussion
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
Behavioral Convergence Across Animal Models
Discussion Leader: Alice Luo Clayton (Simons Foundation, USA)
6:00 pm - 6:30 pm
Shona Chattarji (National Centre for Biological Sciences (NCBS), India)
"FXS and Fear Learning: 'Alternative Facts' from the Amygdala"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:10 pm
Ype Elgersma (Erasmus University, The Netherlands)
"Angelman Syndrome: Molecular Mechanisms and Treatment Strategies"
7:10 pm - 7:20 pm
Discussion
7:20 pm - 7:50 pm
Daniel Feldman (University of California, Berkeley, USA)
"Evaluating the E-I Ratio Hypothesis in Multiple Mouse Models of Autism"
7:50 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; Fill in Conference Evaluation Forms; Discuss Future Site and Scheduling Preferences; Election of the Next Vice Chair
9:00 am - 12:30 pm
Human Cellular Models: iPSC-Derived Neural Cells as a Preclinical Model
Discussion Leader: Anis Contractor (Northwestern University, USA)
9:00 am - 9:30 am
Stormy Chamberlain (University of Connecticut School of Medicine, USA)
"Using Human iPSCs to Explore Angelman Syndrome Therapeutics"
9:30 am - 9:45 am
Discussion
9:45 am - 10:15 am
Flora Vaccarino (Yale University, USA)
"Multi-Omics Analyses of Brain Organoids Reveal Enhancer and Transcriptome Dynamics in Early Human Cortical Development Relevant to Neuropsychiatric Disorders"
10:15 am - 10:30 am
Discussion
10:30 am - 11:00 am
Coffee Break
11:00 am - 11:30 am
Gary Bassell (Emory University School of Medicine, USA)
"Human Cell Culture Models of Protein Synthesis Dysregulation in Fragile X Syndrome"
11:30 am - 11:45 am
Discussion
11:45 am - 11:55 am
Camille Champigny (Université de Sherbrooke, Canada)
"LovaMiX: A Multi-Targeted Biomarker-Oriented Clinical Trial in FXS "
11:55 am - 12:00 pm
Discussion
12:00 pm - 12:10 pm
Brett Abrahams (Ovid Therapeutics, USA)
"OV329: A New and Highly Potent Inactivator of γ-Aminobutyric Acid Aminotransferase (GABA-AT)"
12:10 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Flora Tassone (University of California, Davis, USA)
"Epigenetics Profile in Fragile X Syndrome and Autism Spectrum Disorders"
12:25 pm - 12:30 pm
Discussion
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
Innovative Approaches to Clinical Outcome Measures and Trial Design
Discussion Leader: Michael Tranfaglia (FRAXA Research Foundation, USA)
6:00 pm - 6:30 pm
Lauren Orefice (Harvard Medical School, USA)
"Altered Touch Processing in Autism Spectrum Disorders: Mechanisms and Emerging Therapeutic Approaches"
6:30 pm - 6:40 pm
Discussion
6:40 pm - 7:10 pm
Elizabeth Torres (Rutgers, the State University of New Jersey, USA)
"Self Discovering Volition, Autonomy and Agency: Insights from Neuro-Motor Control in Fragile X, SHANK3 and Idiopathic Autism-Related Disorders"
7:10 pm - 7:20 pm
Discussion
7:20 pm - 7:50 pm
Elizabeth Berry Kravis (Rush University Medical Center, USA)
"Changing the Paradigm for Targeted Treatment Development in FXS: Learning and Plasticity Trials"
7:50 pm - 8:00 pm
Discussion
8:00 pm - 9:00 pm
Dinner
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure