Thursday 11 September 2025 at 14:30-15:30
Followed by PhD-session at 16:00-16:30
(Coffee and cake will be served between lecture and PhD-session)
1252-204 (The Lakeside Lecture Theatre, Eduard Biermann)
Host: Chao Sun

Protein (mis)localization in human genetic disorders

We used high-content microscopy to characterize the localization of thousands if missense variants underlying over 1,000 Mendelian disorders in order to understand if and how protein mislocalization is associated with human disease. We discovered that one-in-six pathogenic missense variants show aberrant localization, establishing it as a pervasive molecular phenotype in diverse genetic disorders. We further characterized how mislocalization can be used to understand modes of inheritance, disease severity, and pleiotropy. We are now using this resource to identify genetic and chemical perturbations that promote correct localization of pathogenic variants.