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Genetic risk factors for cerebral small vessel disease

  • Research type

    Research Study

  • Full title

    Genetic risk factors for cerebral small vessel disease



  • Contact name

    Hugh Markus

  • Contact email

  • Sponsor organisation

    Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge

  • Duration of Study in the UK

    5 years, 0 months, 1 days

  • Research summary

    Disease of the small blood vessels in the brain (SVD) is an important cause of stroke, cognitive impairment and dementia. Therefore SVD is a major public health problem. Researchers do not yet fully understand what causes SVD and this is an important reason why there are no specific therapies to delay its progression.
    Genetic studies provide the opportunity to identify entirely novel disease mechanisms and thereby may allow us to develop new treatment approaches. In addition, the identification of novel genes might allow us to identify individuals at high risk in whom we could institute specific treatments or particularly intensive risk factor prevention.

    However, previous large-scale genetic studies have been largely unsuccessful in SVD, which is probably due to inadequate phenotyping of SVD, disease heterogeneity and relatively small sample sizes.

    This study is part of a larger project, recently funded by a British Heart Foundation programme grant awarded to Professor Hugh Markus. We are going to study the genetic basis of SVD defined using detailed phenotyping. We are going to perform a Genome Wide Association Study, which can identify up to one million variants across somebody’s genomes. In addition we are going to apply powerful new computer methods that make efficient use of disease heterogeneity.

    In this study we aim to increase the sample size by recruiting another 1000 MRI-defined SVD stroke cases and thereby to increase the ability to detect novel genes. Details about the stroke, cardiovascular risk factors, family history and other health details will be collected and 10 ml of blood will be taken from a vein.

  • REC name

    East of England - Cambridge Central Research Ethics Committee

  • REC reference


  • Date of REC Opinion

    22 Jul 2016

  • REC opinion

    Further Information Favourable Opinion