2024 STXBP1 Summit+ Recordings
Researcher Meeting
STXBP1 In The Lab - Thursday 18 July
2024 Science Day 1 Part 1 Recording
STXBP1 Family Story: Jackie Steinberg
STXBP1 Summit+ Science Kick-Off: Charlene Son Rigby
STXBP1 Function and Variants
STXBP1 Beyond the Synapse: Elina Kostyanovskaya, UCSF
STXBP1 Interaction with DDHD2 Drives the Saturated Free Fatty Acid Production Crucial for Memory Acquisition: Tristan Wallis, University of Queensland
The Role of STXBP1 in Extracellular Vesicle-Mediated Systemic Inflammation: Praveen Papareddy, Lund University Sweden;
Syntaxin Dysfunctions in STXBP1 Encephalopathies: Jacqueline Burre, Weill Cornell Medicine
2024 Science Day 1 Part 2 Recording
STXBP1 Function and Variants
Vulnerability of Deep Layer Pyramidal Neuron and Inhibitory Neurons to Transcriptomic Changes in a Validated Mouse Model for STXBP1 Related Disorder: Amparo Roig Adam, Vije Univeriteit Amsterdam
In Vitro Modeling of Patient-Specific STXBP1 Variants: Caroline Pearson, Weill Cornell Medicine
Integration of Machine Learning and Functional Characterization for Resolution of STXBP1 Missense Variants: Jeffrey Calhoun Northwestern University
Translational and Clinical Research at ENDD: Mike Boland, UPenn Perelman School of Medicine
2024 Science Day 1 Part 3 Recording
Preclinical Drug Development
RNA Splicing of STXBP1 in Human Neurons: Lara Janssen, Vije Univeriteit Amsterdam
Advancing gene therapy for STXBP1-related disorders through targeted vector engineering: Efficacy and safety results in mice and non-human primates: Suresh Poda, Encoded Therapeutics;
Systematic dissection of STXBP1 3’ UTR regulation to facilitate therapeutic development: Xuebing Wu, Columbia University
CRISPR-activation strategies for STXBP1 haploinsufficiency: Molly Reilly, UPenn Perelman School of Medicine
AAV Gene Therapies for Brain Disorders: Beverly Davidson, Children’s Hospital of Philadelphia
2024 Science Day 1 Part 4 Recording
Preclinical Drug Development
ASO Approaches to Upregulate STXBP1: Ben Prosser, UPenn Perelman School of Medicine
AAV Gene Therapy Corrects Neurological Phenotypes with Clinically Relevant Doses in a Mouse Model of STXBP1-Related Developmental and Epileptic Encephalopathy: Charles Chen, Baylor College of Medicine
Accelerated Drug Discovery - Drug Repurposing in STXBP1: Chris Hopkins Devine Bio and Trisha Brock, InVivo Biosystems
Developing Therapeutics for STXBP1 and Other CNS Disorders Using Deeply Powered Functional Measurements of Human Neurons: Luis Williams, Quiver Biosciences
Forging Collaboration and Moonshot Thinking to Accelerate STXBP1 Research and New Therapeutics: Sagi Gidali, Rafa’s Moonshot
STXBP1 In The Clinic - Friday 19 July
2024 Science Day 2 Part 1 Recording
STXBP1 Biomarkers and Late-Stage Drug Development
Integrative Omics-Unravelling the Complex Panoramic Landscape of STXBP1: Wendy Gold, University of Sydney
Quantitative EEG as a longitudinal biomarker in DEE: Jay Pathmanathan, Beacon Biosignals
STXBP1-related Disorders Demonstrate Distinct Electrographic Signatures: Peter Galer, Children’s Hospital of Philadelphia
Fingerprinting Gut-Brain Axis in DEEs: Preliminary Results: Ganna Balagura, University of Genoa
2024 Science Day 2 Part 2 Recording
STXBP1 Biomarkers and Late-Stage Drug Development
Assessing and Quantifying Gait Problems with STXBP1-Related Disorders Using Three-Dimensional Gait Analysis: Hannah Stamberger, University of Antwerp
Preclinical Studies for Drug Repurposing for SYNGAP1-DEE: Juliet Knowles, Stanford University School of Medicine
Update on Open Label Study of Phenylbutyrate for STXBP1: Zach Grinspan, Weill Cornell Medicine
Disease-Modifying Treatment for STXBP1-Encephalopathy: IV Administration of rAAV CAP-002 Increases Brain Levels of STXBP1 Protein: Swati Tole and Alberto Lopez, Capsida Biotherapeutics
2024 Science Day 2 Part 3 Recording
STXBP1 Natural History
Expanding Genotype-Phenotype Correlations in STXBP1-Related Encephalopathies: The Role of the Accessible Surface Area in the Tertiary Structure of the Protein: Antonio Gil-Nagel, Hospital Ruber Internacional Madrid
Three-years and Counting: A National Prospective Longitudinal Neurodevelopmental Natural History Study of STXBP1 Encephalopathy: Alex Freibauer, University of British Columbia
Sleep in STXBP1-Related Disorder: Constance Smith-Hicks, Kennedy Krieger / Johns Hopkins Medicine
STXBP1 Natural History and the STARR Study: Ingo Helbig, Children’s Hospital of Philadelphia
2024 Science Day 2 Part 4 Recording
STXBP1 Natural History:
Sensory Processing, Visual Motor and Fine Motor Skills, and Self Care Skill Completion in Individuals with a Diagnosis of STXBP1: Kristin Cunningham, Children’s Hospital of Philadelphia
Gross Motor Skills in Children with STXBP1-Related Disorders: Preliminary Results from the STARR Study: Sam Pierce, Children’s Hospital of Philadelphia
Evidence for Use of the Bayley-IV and Vineland-3 as Outcome Measures: Andrea Miele, Children’s Hospital Colorado
Early Mortality in STXBP1-Related Disorders: Francesca Furia, Danish Epilepsy Center - Filadelfia
Family Meeting
Session Recordings - Saturday 20 July
2024 Family Day Part 1 Recording
STXBP1 Family Story: Anna Thompson
STXBP1 Summit+ Family Kick-Off: Charlene Son Rigby
STXBP1 Clinical Update: Ingo Helbig, Children’s Hospital of Philadelphia
STARR Natural History Study Update: Sarah Ruggiero, Children’s Hospital of Philadelphia; Andrea Miele, Children’s Hospital Colorado
State of Translational Research in STXBP1: Ben Prosser, UPenn Perelman School of Medicine
AAV Gene Therapy Development: Mingshan Xue, Baylor College of Medicine
Drug Repurposing Strategies: Maj Sundbom, Immedica
2024 Family Day Part 2 Recording
Clinical Trial Readiness and Natural History Studies
Learnings from CDKL5 Deficiency Disorder: Ana Mingorance, Loulou Foundation
Data Collection & Registries: Cora Taylor, Simons Searchlight; Zohreh Talebizadeh, RARE-X
2024 Family Day Part 3 Recording
STXBP1 Family Story: Allison Irwin
Community
How to Participate in the STXBP1 Community: Melissa Hioco and Cristina Brennan, STXBP1 Foundation
Studies You Should Participate In: Jackie Steinberg, STXBP1 Foundation
Global Connect & Global Updates: Charlene Son Rigby, STXBP1 Foundation; Ganna Balagura, ESCO Consortium
2024 Family Day Part 4 Recording
Biomarkers: James Goss, STXBP1 Foundation
Phenylbutyrate Study Update: Zach Grinspan, Weill Cornell Medicine
STXBP1 Family Story: Paula Rinauldo
