Saturday
1:00 pm - 5:00 pm
Arrival and Check-in
3:00 pm - 3:15 pm
Introductory Comments by GRC Staff / Welcome and Introduction from the Chairs
3:15 pm - 4:00 pm
Molecular Pathogenesis of FXS and ASD
Discussion Leader: Sarah Giachetti (University of Edinburgh, United Kingdom)
3:15 pm - 3:25 pm
Amanda Engstrom (Baylor College of Medicine, United States)
"Molecular Consequences Driving Neurological Deficits Caused by Changes in MeCP2 Levels"
3:25 pm - 3:30 pm
Discussion
3:30 pm - 3:40 pm
Aditi Singh (Boston Children’s Hospital, Harvard Medical School, United States)
"Fmr1-/y and Syngap+/- Mouse Models Exhibit Divergent Translation Environments and Deficits of Synaptic Plasticity"
3:40 pm - 3:45 pm
Discussion
3:45 pm - 3:55 pm
James Deng (Salk Institute / University of California, San Diego, United States)
"The Role of Astrocyte BMP Signaling in Fragile X Syndrome Model Mice"
3:55 pm - 4:00 pm
Discussion
4:00 pm - 5:30 pm
Poster Session
5:30 pm - 7:30 pm
Advances in Genetics and Functional Genomics and Behavior and Circuit Dysfunction in FXS and ASD
Discussion Leaders: Nitin Khandelwal (UT Southwestern Medical Center, United States) and Constantinos Eleftheriou (University of Edinburgh, United Kingdom)
5:30 pm - 5:40 pm
Introduction by Discussion Leader
5:40 pm - 5:50 pm
Azalea Lee (Emory University, United States)
"Identifying Genetic Modifiers of Seizures in Fragile X Syndrome Through Whole Genome Sequencing and Functional Testing"
5:50 pm - 5:55 pm
Discussion
5:55 pm - 6:05 pm
Victoria Hawkins (University of Auckland, New Zealand)
"Development of an Ovine Model of Fragile X Syndrome for Biomarker Discovery and Therapeutic Testing"
6:05 pm - 6:10 pm
Discussion
6:10 pm - 6:20 pm
Amanda Jeng (Yale School of Medicine, United States)
"Heterozygosity for Neurodevelopmental Disorder-Associated TRIO Variants Leads to both Shared and Distinct Deficits in Behavior, Neuronal Development, and Synaptic Transmission in Mice"
6:20 pm - 6:25 pm
Discussion
6:25 pm - 6:35 pm
Sara Simpson (Massachusetts Institute of Technology, United States)
"Altered Physiology of Primary Visual Cortex in Fragile X Syndrome Revealed by Field Potential Recordings"
6:35 pm - 6:40 pm
Discussion
6:40 pm - 6:50 pm
Alexia Stuefer (Fondazione Istituto Italiano Di Tecnologia , Italy)
"Neocortical Excitation/Inhibition Imbalance During Early Development Leads to Permanent Socio-Behavioral, Transcriptomic and Connectivity Alterations"
6:50 pm - 6:55 pm
Discussion
6:55 pm - 7:05 pm
Lisa De Stefano (Cincinnati Children's Hospital Medical Center, United States)
"Visual Discrimination in FXS: Insights from Behavior and EEG"
7:05 pm - 7:10 pm
Discussion
7:10 pm - 7:30 pm
General Discussion
8:00 pm - 9:00 pm
Dinner
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Body-Brain Interactions in FXS and ASD and Advances in Therapeutic Strategies for FXS and ASD
Discussion Leaders: Savannah Kilpatrick (University Health Network, Canada) and Ourania Semelidou (INSERM U1215, France)
9:00 am - 9:10 am
Introduction by Discussion Leader
9:10 am - 9:20 am
Sonia Gonzalez (Loyola University Chicago, United States)
"Impaired Baseline and Induction Kinetics of the Cellular Stress Response in Rett Syndrome"
9:20 am - 9:25 am
Discussion
9:25 am - 9:35 am
Mariela Lopez Valencia (University of Pennsylvania, United States)
"Effects of Nf1 on Sleep Behavior are Mediated through Starvation and SARM1 Dependent NAD+ Metabolism"
9:35 am - 9:40 am
Discussion
9:40 am - 9:50 am
Aleya Shedd (UT Southwestern Medical Center, United States)
"Examining the Role of Specific NMDA Receptor Subunits in Cortical Circuit Dysfunction in Fragile X Syndrome"
9:50 am - 9:55 am
Discussion
9:55 am - 10:05 am
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"
10:05 am - 10:10 am
Discussion
10:10 am - 10:20 am
Mariam Marie Chellali (Istituto Italiano di Tecnologia, Italy)
"Negr1: A New Possible Convergent Hub for Autistic Spectrum Disorders"
10:20 am - 10:25 am
Discussion
10:25 am - 10:35 am
Mathijs van der Lei (University of Antwerp, Belgium)
"A Combination of Multi-Electrode Array (MEA) and Live Mouse Tracker (LMT) as a Versatile Drug Screening Platform for Fragile X Syndrome"
10:35 am - 10:40 am
Discussion
10:40 am - 11:00 am
General Discussion
11:00 am - 12:30 pm
Poster Session
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
Lunch
1:30 pm - 2:30 pm
Mentorship Component: Panel Discussion Careers in Biomedical Sciences
Discussion Leader: Carissa Sirois (University of Wisconsin-Madison, United States)
1:30 pm - 2:30 pm
Panel Discussion
Careers in Biomedical Sciences
Kemi Olugemo (Ultragenyx Pharmaceutical, United States)
Kimberly Huber (University of Texas Southwestern Medical Center, United States)
David Nelson (Baylor College of Medicine, United States)
Paul Wang (Simons Foundation, United States)
2:30 pm - 3:00 pm
Evaluation Period
Complete the GRS Evaluation Forms; Election of Future Chair(s)
3:00 pm
Seminar Concludes