ESOC Session Highlight – Genetics, Omics and Biomarkers

In this lively inspiring session, Chaired by S. Debette and J. Montaner, results of studies looking at a broad spectrum of novel prognostic as well as diagnostic blood biomarkers including genetic markers and their association with cerebrovascular diseases were presented. The session was enriched by questions from the audience and the chairs.

The prognostic role of microvesicles after ischemic stroke to inform about potential underlying mechanisms as well as the potential of neurofilament light chain as a novel surrogate marker of neuroaxonal injury after stroke were discussed. Speakers also addressed the impact of known prognostic blood biomarkers such as Metalloproteinases, in relation with hemorrhagic transformation after tPA treatment, or natriuretic peptides (MRproANP) as markers of hemodynamic dysfunction in the formation of dolichoectasia, a distinct risk factor for stroke. These results highlight the important role of protein and other blood biomarkers in uncovering novel mechanisms underlying stroke risk as well as outcome after stroke.

Known as well as novel mutations in genes known to cause monogenic small vessel disease were found to be associated with complex small vessel stroke using a targeted sequencing panel. Further, novel common genetic variants associated with different stroke related phenotypes were presented, including variants associated with rtPA induced hemorrhagic transformation, functional outcome after 90 days, as well as ischemic stroke subtypes and DWI infarct volume (focusing on RABEP2 and other angiogenesis genes). These results highlight the important role of the genetic contribution to stroke risk and outcome, and as such potential novel targets in the treatment and prevention of stroke.