Stroke

Kelly Rabionet

Stroke is a cerebrovascular disorder caused by incorrect brain irrigation due to an ischemic injury or hemorrhage, which trigger a lack of oxygen and nutrients and, in consequence, neuronal death. The chances of suffering a stroke are affected by both environmental and genetic risk factors (age, hypertension, smoking, alcohol, etc). While several genetic variants have been associated to increased stroke risk, and additional analysis are ongoing, our group is interested in the recovery process that takes place after an ischemic stroke event.

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We are interested in identifying rare genetic variants involved in the recovery process taking place after a stroke. Stroke recovery is a very complex process involving neuronal cell death and survival, the inflammatory response, and processes of neurogenesis, synaptogenesis, angiogenesis and neural plasticity. While the effects of a stroke are dependent on the size and location of the stroke, and the age and gender of the patient, even accounting for all these sources of variation, there is a range of functional outcomes in the patients several months after a stroke, and we believe that rare and common genetic variation may have an effect on this outcome. We have performed both GWAS and Exome sequencing analysis, and are following up with targeted resequencing in the most promising regions. We will perform functional studies for the most relevant genes, both in cellular models as well as by looking at expression levels in patients’ blood.

We work in collaboration with the Neurovascular unit of Hospital del Mar, Hospital de La Santa Creu i de Sant Pau and Hospital de Vall d'Hebron, among others, as part of the GeneStroke consortium in Spain.

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