Scientific title:
Understanding disease mechanisms in cerebral small vessel disease; a genetic study
University of Cambridge
Principal investigator:
Professor Hugh Markus
Grant value:
Research ID:
TSA 2013/01
Research area:
Start date:
Monday 3 March 2014
End date:
27 months
Year awarded:

Small vessel disease (SVD) involves damage to the small blood vessels in the brain and can lead to a type of stroke which occurs deep in the brain that accounts for 20% of all cases of blood flow blockage (ischaemic) type stroke. SVD is the most common cause of vascular (blood vessel), age-related cognitive decline, which can lead to vascular dementia. 

The causes of SVD are poorly understood and it is thought that the main reason is because there are two very different, underlying mechanisms. This means that different types of treatment may be required, and could also explain poor outcomes with current treatment.

The current study is called a genome-wide association study (GWAS), which have been helpful in understanding other diseases. GWAS means that the entire genome (genetic code) of a person can be looked at, and related to brain scans that show the effects of a stroke. By looking at this information in lots of people, and using powerful computer methods, associations can be made between genetic markers on the genome and the stroke observed. This type of genetic study can uncover mechanisms of stroke that may be impossible with other methods.

The study does not involve any testing on participants. It will use information from at least 3,500 SVD patients, including both brain scans and the genetic code obtained from past blood samples.

If successful the study could lead to new treatments that target both the cause and symptoms of SVD.