On July 17–19, members of the ESCO team and the European community traveled to Philadelphia for the STXBP1 Summit, organized by the STXBP1 Foundation — days filled with science, insights, and community connections.
During the Research Roundtable, our experts shared critical progress on the scientific front lines:
Ana Carreras Mascaro (VU Amsterdam) presented her work on the large-scale functional characterization of STXBP1 missense variants.
Ganna Balagura (University of Genoa) unveiled the current insights into the European STXBP1 landscape using latest updates from the ESCO Registry.
And Hannah Stamberger (University of Antwerp) shared interim analyses from the ESCO Natural History Study.
During the Family Meeting, caregivers, parents, STX-ers, and researchers came together to connect, learn, and see firsthand how their contribution shapes the future:
Dr. Ganna Balagura and Dr. Hannah Stamberger co-led a session about Clinical Trial Readiness, giving families a direct look at “Your Data at Work” through the ESCO study updates.
Ana Carreras Mascaro translated complex science in STXBP1 in the Lab, walking families through updates on the variant spectrum and function.
From data shared in conference rooms to smiles shared over conversations with families, this summit was a powerful reminder: every registry entry, every study participant, and every scientific discovery brings us closer to a brighter future for the STXBP1 community. Check out the website for the programs and livestream recording: https://www.stxbp1disorders.org/2026-summit
