Applying whole Genome Sequencing to Identify Novel Causes of Small Vessel Disease Stroke – (PhD only)

Disease of the small blood vessels in the brain (SVD) accounts for 20% of all strokes and is the most common cause of vascular dementia. It also represents the most common type of stroke caused by familial or monogenic conditions. The most common of these is CADASIL but recently an increasing number of other monogenic forms of small vessel disease have been described. The ability to investigate this area has been transformed by whole genome sequencing technology. This is allowing us to understand for the first time how common these causes of stroke are, and to identify new monogenic forms of SVD. We are leading a UK wide project applying this technology to patients with suspected familial SVD as part of the BRIDGE project and 100,000 Genomes project. The student will work on data acquired in these initiatives. The project brings together a multidisciplinary team of clinicians involved in phenotyping and describing and clinical profiles, imagers who perform MRI brain imaging to understand disease pathogenesis, and statisticians who analyse the genetic data. The student would work in one or more of these areas.

Tan R, Traylor M, Rutten-Jacobs L, Markus H. New insights into mechanisms of small vessel disease stroke from genetics. Clin Sci (Lond). 2017 1;131:515-531. Tan RY, Markus HS. Monogenic causes of stroke: now and the future. J Neurol.

2015; 262:2601-16.