Functional Characterization for Germline Variants in Patients with MDS and AML

Germline variants in DDX41, an RNA helicase, can be detected in up to 4% of all newly diagnosed patients with MDS and AML. DDX41 plays a crucial role in various cellular processes. In this MEDtalk, Nikolaj Nitschke presents a study that aims to develop an assay that can functionally characterize individual DDX41 variants, thereby enhancing our understanding of how germline variants in DDX41 affect cellular function.