From October 8–11, 2025, Heidelberg became the center of the STXBP1 community, welcoming scientists, clinicians, families, and advocates from across Europe and beyond for the 2nd European STXBP1 Summit and Family Day. The four-day gathering brought together over 40 expert speakers, dozens of families, and countless collaborators united by one goal: to advance research and improve the lives of individuals living with STXBP1-related disorders.
Research Roundtable: Bridging Mechanisms, Models, and Medicine
The Research Summit (October 8–10) opened with a welcome by Steffen Syrbe (Heidelberg) and presentations from the European STXBP1 Association. Over the following days, participants explored the shared and distinct mechanisms underlying monogenic neurodevelopmental disorders, clinical insights, therapeutic innovations, and biomarker development.
Highlights included:
- Matthijs Verhage (Amsterdam) introducing SNAREopathies and leading expert discussions on shared disease mechanisms.
- Ingo Helbig (Philadelphia) presenting on clinical science and trial readiness, presenting updates from the STARR.
- A dedicated focus on therapy development, featuring presentations on ASO and CRISPRa strategies (Ben Prosser, Nathan Henderson), computational drug discovery (Efrat Ben-Zeev), and gene therapy lessons from related diseases (Andreas Ziegler).
- The final day spotlighted EEG and plasma biomarkers, with contributions from Hilgo Bruining, Additya Sharma, and Jillian McKee, underscoring the importance of measurable endpoints for future trials.
In recognition of his outstanding leadership in STXBP1 research, Prof. Matthijs Verhage was also presented with the Innovative Research Award from the STXBP1 Foundation, an honor first announced virtually in July.
Family Day: Connecting Science and Community
On October 11, the summit concluded with the European Family Day, a heartfelt gathering of families from across Europe. The day began with stories from the German STXBP1 community, followed by sessions on genetics, disease mechanisms, and standards of care led by Hannah Stamberger, Matthijs Verhage, and Ingo Helbig.
Families had the chance to hear summaries of the research summit, learn about ongoing studies through the ESCO Registry and STARR Natural History Study, and participate in open roundtables on therapy development and patient needs. Speakers included James Goss, Charlene Son Rigby, Hilgo Bruining, Scott Demarest, Kelsey Ax, and Sietske van Till.
Special activities included live-streaming playrooms, opportunities to participate in ongoing research, and one-on-one genetic counseling sessions with Katie Angione and Sarah Ruggiero.
A Europe Moving Together
The summit followed a remarkable month of community-driven fundraising and awareness events. Families from all eight ESCO member countries joined forces for the “Move to Cure Europe” virtual relay, passing a symbolic baton across borders to raise awareness and funds for research. Nearly €25,000 has been raised so far—an inspiring testament to the strength and unity of the STXBP1 community.
These efforts culminated in a short video capturing this European relay (see below)—celebrating the dedication, resilience, and shared hope that continue to drive progress forward.
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Hi Gilberte, I have been having some technical issues getting it working. I hope to have it resolved soon.