heart diagram


Professor Stuart Cook
Lead academic
+44 (0)20 3313 1346

Find out about our MSc Genomic Medicine

What we do

The overarching aim of research in the Quantitative Physiology and Genetics Section is to understand the genetic basis of cardiovascular disease in order to both reveal disease mechanisms, thereby identifying new therapeutic targets, and to interpret genomic information for application in the clinic.

Central to our work is the integration of genome data with cutting-edge phenotypic characterisation. We leverage cardiac magnetic resonance (CMR) imaging, machine-based image processing and quantitative multi-dimensional feature extraction techniques, transciptomics and translatomics, and other large data sets including electronic health records, to make new insights into human disease.

Why it is important

Inherited cardiac conditions affect more than 600,000 patients in the UK (~1% of the population) with up to 13,000 new referrals every year. Cardiomyopathies alone are the commonest cause of sudden death in the young, and the leading cause of heart transplantation. 

Understanding the genetic basis of these diseases is vital to management of the patient and their family, as the familial inheritance pattern typically results in a 50% risk for first degree relatives. Accurate genetic analysis is key for diagnosis, and for 21st century precision medicine. 

Moreover, study of these genetic conditions helps us to understand other, related cardiovascular conditions, and our new methods for genome analysis and interpretation are widely applicable to other areas of applied genomics.

Impact of our research

Recent advances in DNA sequencing technologies, medical imaging, and data science have enabled us to uncover new insights into cardiac disease, and to provide new tools and resources for genome interpretation.

Examples of our recent high-impact translational work include:

Summary of current research

  • Identifying genes and variants that cause inherited cardiac conditions.
  • Interpreting genetic variation in order to discriminate rare benign genetic polymorphisms from pathogenic mutations.
  • Translating “Next-Generation Sequencing” (NGS) technologies for molecular diagnosis.
  • The role of titin (TTN) in cardiomyopathy.


Related centres

Web resources

We have developed a number of software packages and web resources for genome research, available at cardiodb.org.

For patients

Our researchers