Researchers at CNCR-FGA and two Italian institutes describe the first two patients with a homozygous STXBP1 mutation. Opposite to known mutations, this mutation increases synaptic transmission. The study is published in the leading journal Brain.

Claudia Persoon (CNCR-FGA) and colleagues identified RAB3 and RIM1/2 as essential factors for neuromodulator secretion from dense core vesicles in mammalian neurons. This study is now published in Neuron.

The program by Matthijs Verhage (FGA) and long-term collaborator Jakob Sorensen will systematically compare synaptic defects, EEG biomarkers and cognitive deficits between patients and mouse models

CNCR organized, together with new UMCA professor Hilgo Bruining, a colloquium at the Royal Academy bringing together world leaders to discuss neurodevelopmental disorders and science-based intervention for individual patients.

A study performed by PhD student Vera Wiersma (FGA), from the team of Wiep Scheper, and colleagues reveals that neurons develop granulovacuolar degeneration bodies in response to tau pathology. This collaborative effort was published in Acta Neuropathologica.

NWO has awarded Dr. Marieke Meijer (FGA) with a Veni grant of 250.000 euro to conduct her research on synaptic dysfunction in neurodevelopmental disorders

In this study Marinka Brouwer (FGA) shows that adhesion molecule SALM1 binds an intracellular protein complex via one domain and organizes synapse development via another. The study was a collaboration between FGA and MCN.

Femke Feringa (FGA) did her PhD in cancer research but decided to switch to neurodegeneration and study why genes involved in immune responses and cholesterol metabolism are among the strongest associations with Alzheimer’s disease.

Dr. Mala Misra-Isrie and PhD students Annemiek van Berkel and Hanna Lammertse were given the opportunity to attend and present their work at the first STXBP1 Investigators and Family Meeting.

Wijnand Geraerts, biologist by training, designed CNCR together with Menno Witter and Dorret Boomsma, promoting groundbreaking, multidisciplinary research and bringing scientists with different backgrounds together within CNCR.