Grand challenges in stroke genomics

Stroke, a leading cause of death, disability and dementia, is a significant public health burden with enormous financial and human costs that are projected to rise over the next decades due to demographic shifts in populations around the globe (Donkor, 2018). Stroke is a complex and heterogeneous disease encompassing multiple etiological subtypes. Recent genetics and omics studies have yielded some exciting novel insights into stroke pathophysiology and the promise of new advances in stroke prevention, diagnosis, treatment, and outcome. In particular, genome-wide association studies (GWAS) have proven an essential tool to identify common variants associated with stroke, thus unveiling previously unsuspected biological mechanisms underlying stroke and stroke subtypes (Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, the Stroke Genetics Network (SiGN), and the International Stroke Genetics Consortium (ISGC), 2016; NINDS Stroke Genetics Network and International Stroke Genetics Consortium, 2016; Malik et al., 2018; Keene et al., 2020). For example, the discovery of a common variant in the HDAC9 gene as the strongest genetic risk factor for large vessel stroke identified to date has shed light on a potential mechanism related to atherosclerotic plaque vulnerability (Asare et al., 2020). With a growing number of stroke gene discoveries owing to sustained increases in sample sizes and development of high-throughput omics discovery methods, the opportunities for genomic medicine applications in stroke have never been so great. Yet, several enduring challenges in stroke genomics remain to be addressed.

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