Generation of Patient-Specific Stem Cells for Research into Stroke

Study code

Lead researcher
Professor Hugh Stephan Markus

Study type
Participant re-contact

Institution or company
Cambridge University

Researcher type

Speciality area

Recruitment Site


In most cases, stroke is caused by a blockage of the blood vessel in the brain, which results in cutting off oxygen supply (ischaemic). In addition to well known risk factors, like high blood pressure and diabetes, we know that genetic factors have an important role in stroke. A new genetic variant in a gene called HDAC9 has been identified as specific risk factor associated with ischaemic stroke in large blood vessels and coronary artery disease, which is caused by blockage of the major blood vessels that supply the heart with blood. This gene has an important role in inflammations; however, it is not yet clear how it causes stroke.

The purpose of this study is to understand why the genetic variant in HDAC9 causes stroke by generating blood vessel cells in the laboratory from patients with this genetic cause of stroke. To generate blood vessel cells, we will take a small skin sample, known as skin biopsy, from patients with the genetic variant in HDAC9. This sample will be used for research use only to create adult human stem cells, called induced pluripotent stem cells. These induced pluripotent stem cells have the ability to generate all tissues of the human body and in our laboratory in Cambridge, we have established ways to make induced pluripotent stem cells become cells of the blood vessels. These blood vessel cells can be used in the laboratory to study the underlying mechanisms of stroke and to test possible new drugs and treatments.