On Saturday June 8, 2024, our teams successfully biked the European Million Dollar Bike Ride, a fundraising event to raise money for research into STXBP1-related disorders! Together they raised more than 12.000 euros.
A collaboration between CNCR-FGA and University of Heidelberg shows that protein instability is the generalizable, primary cause. A new prediction tool outperforms all existing predictors. The paper is out now in Biological Psychiatry.
The STXBP1 team baked 250 cookies to raise awareness for the disorder.
De Universiteit Antwerpen en het Universitair Ziekenhuis Antwerpen doen onderzoek naar motorische problemen en gangproblemen bij kinderen en volwassenen met STXBP1-E.
Met ruim 20 deelnemers online en 4 familieleden in de zaal was onze 2e editie van een digitale informatieavond weer een groot succes.
The first European STXBP1 summit, May 16-18, 2023, brought together stakeholder groups related to STXBP1 disorders from all over the world: fundamental researchers, healthcare professionals, representatives from industry and patients and their caregivers and advocates.
N Het eerste Europese STXBP1 congres, gehouden op 16-18 mei 2023, bracht stakeholders betreffende STXBP1-gerelateerde stoornissen van over de hele wereld samen: fundamentele onderzoekers, zorgverleners, vertegenwoordigers uit de industrie en patiënten en hun verzorgers.
Wij organiseeren een nieuwe STXBP1 informatieavond.
Here we present one of our latest publications titled ‘Dysregulation of synaptic and developmental RNA and protein profiles upon depletion of MUNC18-1’
N: Hier presenteren we een van onze nieuwste publicaties getiteld ‘Dysregulation of synaptic and developmental RNA and protein profiles upon depletion of MUNC18-1’
Here we present one of our latest publications titled ‘Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1’
N: Hier presenteren we een van onze nieuwste publicaties getiteld ‘Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1’
In this highly collaborative paper, we explored the phenotypic landscape of 534 patients diagnosed with STXBP1-related disorders. It provides a detailed overview of not only the diversity in genetic variations causing the disease, but also the diversity in symptoms reported in single patients, as well as medication effectiveness.
On Saturday 11th of June we successfully biked the Dutch-Belgian million dollar bike ride, a fundraising event to raise money for research towards STXBP1-Encephalopathy!
To raise awareness about rare diseases the Orphan Disease Center organised a social media challenge. The video made by our STXBP1 team was one of the winners of the challenge!
The VU-VUmc STXBP1 team, together with their collaborators, have published a new study on quantitative EEG analysis for STXBP1 syndrome patients. The study is published in the journal Frontiers of Physiology.
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.
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.
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.
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.
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.
On Saturday the 13th of April, the STXBP1 research team welcomed a new group of STXBP1-E families at the VUmc for a second ‘Clinic day’.
On Saturday the 13th of October the first group of STXBP1-E families came to the VUmc to participate in the new study on STXBP1-Encephalopathy.
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 the mechanisms underlying the seizures and cognitive deficits in STXBP1 Encephalopathy and present several new animal models.
