September was STXBP1 awareness month!
The STXBP1 team baked 250 cookies to raise awareness for the disorder.
News
Uw kind kan meedoen: onderzoek naar STXBP1-E in Antwerpen
De Universiteit Antwerpen en het Universitair Ziekenhuis Antwerpen doen onderzoek naar motorische problemen en gangproblemen bij kinderen en volwassenen met STXBP1-E.
Samenvatting STXBP1 informatieavond
Met ruim 20 deelnemers online en 4 familieleden in de zaal was onze 2e editie van een digitale informatieavond weer een groot succes.
1st European STXBP1 Summit and Research Roundtable
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.
STXBP1 informatieavond voor verzorgers van STXBP1 patiënten
Wij organiseeren een nieuwe STXBP1 informatieavond.
Research article: Dysregulation of proteins and RNA in STXBP1-/-
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’
Research article: New insights into cell death in STXBP1-/-
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’
Research article: A comprehensive analysis of 534 patients
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.
Million Dollar Bike Ride: Teams raise more than 20.000 Euro
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!
Winners of the 2022 ODC Rare Disease Day Competition!
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!
First study on EEG analysis of STXBP1 syndrome published
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.
STXBP1 patient family events 2021
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.
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.
Collaborators organize inspiring STXBP1 patient day in Denmark
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.
STXBP1 team attends first SIFM meeting in Philadelphia, USA
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.
Seven new STXBP1 patients participated in the 2nd clinic day
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’.
Clinic day on 13 Oct marks successful start to new STXBP1 study
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.
CNCR and VUmc together host the first STXBP1-E Patient Clinic
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.
STXBP1-study by Kovačević & colleagues published in Brain
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.
