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.
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.
STXBP1 patients, researchers and physicians came together in Dianalund, Denmark on September 20. The STXBP1 day served as an opportunity to meet other patient families, talk to physicians and hear about the current STXBP1 research lines.
On Oct. 13, the 1st STXBP1 Patient Clinic Day will take place at VUmc in Amsterdam. The day is part of our studies on STXBP1-Encephalopathy (STXBP1-E) in a collaboration between FGA-CNCR, Clinical Genetics and VU spin-off company NBT Analytics.
A team of FGA/CNCR researchers together with US/Swedish partners (SUN project) and VU spin-off Sylics characterize mechanisms underlying the seizures and cognitive deficits in STXBP1-encephalopathy and present several new animal models.