Disease of the small blood vessels in the brain, which is called Cerebral Small Vessel Disease (SVD), causes a quarter of all strokes and is the most common cause of vascular dementia. Genetic risk is important although there is much that we do not understand about the molecular processes linking genetic risk to disease. SVD is the most common type of stroke caused by single gene disorders of which the most common is CADASIL but recently many others have been described including mutations due to HTRA1, COL4A1/2, and other genes. Our ability to investigate this area has been transformed by the advent of next generation sequencing (NGS).
The student will apply NGS techniques including whole genome sequencing (WGS) performed as part of the 100 000 Genome Project to investigate familial SVD. The project will involve analysing already acquired NGS data to both look at the frequency of mutations in known genes underlying SVD, and also determining the phenotypic characteristics in these patients, and also attempting to discover new genes underlying this important disease. The studentship could be adapted to suit a student wishing to undertake a primarily bioinformatics project, or to a student wishing to undertake a more clinically based project. Cambridge offers an exceptional environment to carry out this work as it has led the UK SVD whole genome sequencing project and has extensive expertise in bioinformatics analysis of WGS data.
Funding deadline is 5th December 2018 for start in October 2019. When applying indicate on the application the funding options (GATES USA *deadline 10/10/18*, Gates Cambridge or other Cambridge Funders). Home/EU and International applications are all considered for funding.
Further information can be found on our website here
Reference: Tan R, Traylor M, Rutten-Jacobs L, Markus H. New insights into mechanisms of small vessel disease stroke from genetics. Clin Sci (Lond). 2017 Apr 1;131(7):515-531.
