STXBP1 patient family events 2021

October 2, 2021

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In September 2021 a Dutch patient family event was organised by researchers and clinicians involved in STXBP1 research at the Vrije Universiteit Amsterdam and the Amsterdam UMC, followed by the international event of the STXBP1 foundation.

On September 2nd 2021 the first virtual STXBP1 event for Dutch patient families has taken place. Several researchers and clinicians presented the recent developments in STXBP1 research in Amsterdam. Most participants agreed that it is important for researchers to have access to patient-own cellular material. This was nicely demonstrated in the presentation by Hanna Lammertse and Annemiek van Berkel, who showed that patient-derived neurons have a different protein assortment as well as different network activity compared to control neurons. Furthermore, Simon Houtman presented his research using EEG recordings from patients, helping us understand the hallmarks of STXBP1 Syndrome. Finally, Ruud Toonen closed off with a perspective on the future developments in the research of STXBP1 Syndrome in Amsterdam and the potential of collaborations with pharmaceutical companies in the future.

Fig.: Clinicians and researchers who participated in the Dutch patient family event.

In addition to this Dutch event, the yearly international event organised by the STXBP1 foundation has taken place on September 18th. The presentations of this event have been recorded and can be viewed following this link. Miriam Öttl, PhD student in our lab, has presented in session #3.