This work would not have been possible without the contributions of the affected individuals, their courageous families, and the extensive community of human geneticists and clinicians who came together to make this study possible.
@neurocure.bsky.social
@fmp-berlin.de
Our findings reveal three mechanisms of pathogenicity: loss of UNC13A, gain of function, and dysregulation of UNC13A activity. This study highlights the importance of validated mechanisms of pathogenicity for variants within the same gene, as distinct strategies will be required to address them.
In a manuscript now published in Nature Genetics, we identify a neurodevelopmental disorder associated with variations in the UNC13A gene. UNC13A is essential for synaptic transmission and plasticity, and a key genetic risk factor associated for ALS and FTD.
www.nature.com/articles/s41...
We introduce a new mouse line for labelling presynaptic terminals with chemical dyes, enabling imaging of fixed and live neurons at confocal- & super resolution. We synthesized & validated a new cell impermeable dye, BG-SiR-d12, that significantly improved image quality! pubs.acs.org/doi/10.1021/...
🧠 Great news: NeuroCure will continue to receive funding under the Excellence Strategy from 2026! 🎉 We remain committed to research across a broad spectrum of #neurological and #psychiatric disorders. Thank you to all partners for your trust! 🚀 #neuroscience
"My mom will always be a role model for me. She always instilled this sense into me that everything is possible," says @hannahornberg.bsky.social, head of the "Molecular and Cellular Basis of Behavior" lab at #mdcBerlin.
Tell us who has inspired you! 👇 #mdcDiversity #WomenInSTEM #WomenInScience
Kicking off the new year on a high note: NeuroCure @Charité_Berlin presented its renewal proposal to the DFG appraisal committee. A huge thank you to all who contributed for their hard work. Now fingers crossed! We're excited for what's to come! #ExcellenceStrategy #neuroscience #teamwork
Great meeting on Synapse Biology in Health and Disease in Copenhagen with phantastic talks! Thank you Alex Walter, Jakob Sorensen, and Takeshi Sakaba for organizing this memorable event!