Hunting for genes linked to cerebral small vessel disease

Using genetics to explore the pathophysiology of cerebral small vessel disease

Professor Hugh Markus and colleagues at the University of Cambridge are studying cerebral small vessel disease (SVD), a disease of the small blood vessels in the brain. The condition causes a quarter of all strokes and underlies vascular dementia. There are few treatments that treat it effectively. We don’t understand what causes SVD, so we need to understand this disease better to develop new and better treatments. In this project, Professor Markus and his team will work with international scientists who are part of the International Stroke Genetics Consortium. They will collect data from 5000 patients with SVD who have had an MRI scan that reveals how SVD is affecting their brain. The team will search for new genes that may cause SVD and work out if any particular gene changes are more common in people who have had a stroke compared with those who have not. They will use this genetic data to identify new and existing risk factors that are most important in SVD, and that could be most effective at reducing SVD risk if they are treated. They will also find out if SVD genes are present in other blood vessel diseases. This research may reveal new genes associated with SVD, and suggest new ways to treat it and reduce the risk of stroke.