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WSC 2022 | Genetics of cerebral small vessel disease

Bernard Cho, PhD Candidate, University of Cambridge, Cambridge, UK, discusses our current understanding of the genetics of cerebral small vessel diseases (cSVD) and how known variants play a role in disease pathophysiology. NOTCH3, HTRA1, and COL4A1/2 are some of the most common variants known to cause monogenic cSVD and are associated with increased risk of stroke and dementia. Early studies have shown that these genes are all involved in the regulation of extracellular matrix function, suggesting these pathways may have value as future therapeutic targets. Much remains to be uncovered regarding the function of these pathogenic variants, particularly what underlies the phenotypic variability seen in carriers. This interview took place at the World Stroke Congress 2022 in Singapore.

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