STXBP1 Research Roundtable 2021

Conference Recordings

The STXBP1 Research Roundtable 2021 was held virtually on 18 & 19 November 2021. The conference focus was to share new research, and engage in discussion on key gaps in current knowledge. These discussions are important input to shape the STXBP1 research roadmap, so we can accelerate understanding and therapy development for STXBP1 disorders.

 
 

Kickoff and Meeting Goals

  • Kickoff - Charlene Son Rigby, MBA & Jim Goss, PhD

  • Meeting Goals - Ben Prosser, PhD

Clinical Session

  • Session Chair Remarks - Ingo Helbig, MD

  • Gaps in Understanding STXBP1 Phenotype - Ingo Helbig, MD

  • Natural History of STXBP1 in Adulthood - Hannah Stamberger, MD, PhD

  • Dissecting the relationship between seizures and development in STXBP1-DEE - Ganna Balagura, MD, PhD

Endpoint & Biomarker Development, Lessons Learned from Clinical Trials

  • Session Chair Remarks - Terry Jo Bichell, PhD

  • Rare Diseases - Rare Outcomes - Measuring “Better” for DEE Patients with Severe Impairments - Anne Berg, PhD

  • Paving the Way for Clinical Development for CDD - Xavier Liogier, PhD

  • Lessons Learned from 4-phenylbutyrate Clinical Trial - Zachary Grinspan, MD, MS

Mechanisms of Disease

  • Day 2 Kickoff - Ben Prosser, PhD

  • Session Chair Remarks - Jacqueline Burre, PhD

  • Dissecting STXBP1 disease mechanism, one molecule at a time - Frederic Meunier, PhD

  • Reduced MUNC18-1 levels, synaptic proteome changes and altered network activity in STXBP1-Syndrome patient neurons - Hanna Lammertse, MSc and Annemiek van Berkel

  • Multiplicative effects of a modifying gene explains phenotypic diversity in STXBP1 syndrome - Jovana Kovacevic, PhD

Models for Therapeutic Development

Day 1 Session

  • Characterization of R406H Mouse Model - Rebecca Haffner-Krausz, PhD & Michael Tsoory

Day 2 Session

  • Session Chair Remarks - Michael Boland, PhD

  • STXBP1 encephalopathy - mechanisms and therapies interrogated using human brain organoids - Christopher Makinson, PhD

  • C. elegans and VUS Characterization - Chris Hopkins, PhD

  • RNASeq High-throughput Screening - Omid Karkouti, PhD

Meeting Close

  • Closing and Next Steps for STXBP1 Research Network - Ben Prosser, PhD

 
 

Thanks to our Organizing Committee

  • Ben Prosser, PhD - University of Pennsylvania

  • Ingo Helbig, MD - CHOP

  • Jacqueline Burre, PhD - Weill-Cornell Medicine

  • Matthijs Verhage, PhD - VU Amsterdam

  • Michael Boland, PhD - Columbia University

  • Mingshan Xue, PhD - Baylor College of Medicine

  • Terry Jo Bichell, PhD - COMBINEDBrain

 

Thanks to our sponsor