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!

We bike together to raise money for research towards new treatments for the rare disorder STXBP1 Encephalopathy!

An international consortium analysed DNA from more than 300,000 people with and without the disorder. The SYNGO consortium, coordinated by CNCR, performed the analyses of synaptic genes. The study is published in Nature on April 11th

Guus Smit and Matthijs Verhage obtained funding to coordinate expert annotation of the synaptic protein interactome, with the goal to curate protein-protein interactions implicated in autism.

Irune Guerra San Juan (FGA) & team show neuropathies may develop in ALS patients when a poison exon in Stmn2 mRNA is not excised due to TDP43 dysfunction. The study is a collaboration with Harvard University published in Neuron on March 15th

The SYNGO consortium, coordinated by CNCR, enters a new phase to annotate/curate protein-protein interactions in the synapse with two more years of funding for the Amsterdam office.

This February, the Orphan Disease Center challenged researchers worldwide to share social media posts about the rare disease they are working on . The three most creative and popular posts were selected as winners on Feb.28th, Rare Disease Day 2022. The CNCR STXBP1 team is one of the winners