ESOC 2018 – Stroke Genetics and Omics

In order to prevent and decrease the devastating consequences of stroke, a clear understanding of the environmental and genomic risk factors as well as the molecular pathways involved in the occurrence and evolution of this disease is mandatory.  In this respect, the application of “omic” technologies which include the universal detection of genes (genomics), mRNA (transcriptomics), protein (proteomics) and metabolites (metabolomics) have provided the necessary tools as well as proofs to increase our knowledge about the functional network of genes and proteins participating in the occurrence, diagnosis and prognosis of stroke. These technologies, largely looked skeptically from the scientific community, are now closer to be applied to the usual clinical practice.

Dr. Montaner focused on the usefulness of biomarker panels in different clinical situations including the differentiation of stroke mimics from real stroke as well as ischemic from hemorrhagic stroke. He also emphasized the potential value of different biomarkers to classify stroke etiology, to guide tPA treatment and to predict outcome.

Dr. Jicling explained how to extract RNA from leukocytes in order to obtain gene panels. These panels can be used to differentiate TIA from stroke mimic and also to define stroke etiology. Moreover, gene panels may also have an application to target the immune system with the objective of reducing the risk of hemorrhagic transformation after reperfusion therapies.

Dr. Tied explained how to use metabolomics and multi-level omics to differentiate ischemic stroke from healthy individuals but also to predict recurrent events after a first TIA. He emphasized the importance of having an holistic view and opened the perspective for personal omics profiling.

Dr. Traylor reviewed the results from the MEGASTROKE data demonstrating the important number of loci genes related to stroke risk as well as the pathophysiological mechanisms related to stroke. He also emphasized the usefulness of these loci to support repurposing of existing medications for stroke therapy.

Finally, Dr. Chabriat made a review of the most important monogenic diseases increasing the risk of stroke. He explained diagnostic strategies and highlighted the importance of clinical suspicion beyond the routine evaluation in order to identify these diseases.