Webinar Recordings
This series of scientific webinars featuring our committed researchers took place September 2020.
German translations of the webinars are provided here.
STXBP1: An Update - this recording is closed caption enabled
STXBP1: An Update
Thursday, September 10
Ingo Helbig, MD of Children’s Hospital of Philadelphia provide an update on STXBP1 biology and function, and clinical presentation.
Sarah McKeown, MS, LCGC, will provide an overview of the ENGIN multidisciplinary Epilepsy Neurogenetics Initiative (ENGIN) clinic, and its work with STXBP1 Encephalopathy patients.
Designing a Natural History Study and Verhage Lab Updates - this recording is closed caption enabled
Verhage and his team also provided a
Written Q & A for audience questions
Designing a STXBP1 Natural History Study and Verhage Lab Updates
Friday, September 11
Matthijs Verhage and members of his lab will discuss the design of a new STXBP1 Natural History Study and provide additional updates from the lab.
Speakers:
-Matthijs Verhage, PhD, head of department: Introduction and Overview
-Simon Houtman, PhD-student: Using EEG for better treatment decisions in STXBP1 syndrome
-Annemiek van Berkel, PhD-student & Hanna Lammertse, PhD-student: Studying the consequences of STXBP1 mutations at the cellular level
ASO and Genetic Therapies as a Therapeutic Approach for STXBP1 Encephalopathy - this recording is closed caption enabled
ASO and Genetic Therapies as a Therapeutic Approach for STXBP1 Encephalopathy
Thursday, September 17
Ben Prosser, PhD, from University of Pennsylvania will provide an overview of genetic therapies as a potential treatment approach for STXBP1. He will also address his current research on ASOs.
Ganna Balagura, MD, from the University of Genoa will discuss SINEUPs as a novel genetic therapy approach for STXBP1.
Simons Searchlight and STXBP1 Registry Update - this recording is closed caption enabled
Simons Searchlight and STXBP1 Registry Update
Saturday, September 19
Simons Searchlight hosts the STXBP1 Registry, a critical asset in advancing our understanding of STXBP1 and accelerating research. Wendy Chung, MD, PhD, Director of Clinical Research at Simons Foundation and Professor of Pediatrics at Columbia University, will provide an informative update on Simons and STXBP1.
STXBP1 Update from Weill Cornell - this recording is closed caption enabled
STXBP1 Update from Weill Cornell
Tuesday, September 22
Jacqueline Burre, PhD, Debra Abramov and Noah Guiberson present a 282 STXBP1 Patient Review and also discuss Small Molecule Therapy Approaches.
Zach Grinspan, MD provides an update on the clinical trial pilot for a potential small molecule treatment, 4-Phenylbutyrate, identified in Burre's lab.
How Different Neurons in the Brain Contribute to STXBP1 Encephalopathy - this recording is closed caption enabled
Mingshan also provided a written Q&A for additional audience questions
How Different Neurons in the Brain Contribute to STXBP1 Encephalopathy
Tuesday, September 29
Mingshan Xue, PhD is Assistant Professor in the Department of Neuroscience & the Jan and Dan Duncan Neurological Research Institute at Baylor College of Medicine. Dr. Xue will discuss his lab's work elucidating the roles of different neurons in STXBP1 disorders.
