PRiSM is a functional screen to assess the pathogenicity of candidate variants identified in individuals with a neurodevelopmental disorder.
PRiSM consists of an in silico screening followed by three standardized assays. Two in vitro assays, looking at the effect of the variant on protein stability and neuronal morphology, and one in vivo assay, looking at the effect of the variant on neuronal migration.
NEWS & EVENTS
PRiSM wins Translational Neuroscience Prize 2018
Elk jaar in juni komen alle neurowetenschappers van Nederland twee dagen samen in de bossen van Lunteren. Dan worden de nieuwste wetenschappelijk resultaten gepresenteerd...
At the moment we do not have any funding for screening mutations.
Presentations on projects where the PRiSM screen is used at conferences, patient organization days, or other occasions will be announced here.