I am leading the research group for modeling cerebrovascular diseases using patient-derived human induced pluripotent stem cells (hiPSC) in the department of Clinical Neurosciences at Addenbrooke’s hospital. My main aim is to develop hiPSC-based model systems for cerebral small vessel disease, exploiting findings from genome wide association studies (GWAS) and whole genome sequencing studies in ischaemic stroke.My research is based on the national clinic run by Professor Hugh S. Markus for patients with monogenic forms of small vessel disease, which offers a unique opportunity to obtain tissue to generate hiPSC from patients with a wide variety of single gene disorders causing stroke, and to perform translational studies in these patient groups. We are also collaborating closely with stroke genetics researchers throughout the world via the International Stroke Genetics consortium founded by Professor Markus (www.strokegenetics.com).

Using patient stem cells, I’m generating brain blood vessels in a dish to model Small Vessel Disease – one of the major causes of stroke and dementia. With this model, we hope to identify novel targets for treatment.

My work focuses on the study of the cardiovascular disease Marfan syndrome (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455/) by using human induced pluripotent stem cells (hiPS) as model system.I have developed hiPS from fibroblast lines from patients affected by Marfan syndrome to generate an in vitro model, which will help us to investigate the mechanism underlying Marfan disease.Marfan Syndrome (MFS) is caused by mutations in the Fibrillin-1 gene, which result in degradation of the extra-cellular matrix and consequent death of the vascular contractile smooth muscle cells (SMC), which form the aortic wall, causing aortic aneurysm. My focus will be in investigating the role of the transforming growth factor (TGF)-β signalling in SMC development and survival and in regulating the vascular disease response.

Dystonia Disorder.

Neuroscience.

Embryonic Development.

The MRC Centre for Developmental Neurobiology