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  1. CNCR
  2. STXBP1
  3. News
  4. 2020

ERC-PoC grant to spin out therapy design using human neurons

Claudia Persoon and Matthijs Verhage developed new preclinical screening assays using functional, mature human neurons and CRISPR-Cas9 technology, to promote identification of promising treatment strategies for brain disorders.

SNAREopathies: New syndrome classification based on mechanism

A position paper by Verhage & Sorensen published in Neuron on June 19 proposes to unify syndromes caused by mutations in eight core components of the synaptic secretion machinery, based on common etiology and mechanism.

Joint CNCR/Swiss high-throughput STXBP1 screen receives funding

The STXBP1 team of FGA obtained funding from the 2019 Million Dollar Bike Ride event, organized by the Orphan Disease Center in the US, for a high throughput screen to identify new therapeutic interventions for STXBP1 patients.

First homozygous STXBP1 patients carry gain-of-function variant

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.
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