Watch: Webinar recorded for the AHSC, giving a summary of some of our research
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:
- Identification of the giant gene Titin as the single most important cause of dilated cardiomyopathy (DCM) (see Titin publications and press coverage), and recognition that Titin mutations affect the hearts of 1% of the population (read article on Imperial News).
- Redefining the genetic architecture of cardiomyopathies, including dilated, hypertrophic, arrythmogenic, and peripartum (pregnancy-related) cardiomyopathies.
- Participation in the Exome Aggregation Consortium to produce the largest human genomic reference dataset in the world as reported in Nature.
- Development of a comprehensive DNA sequencing panel for inherited cardiac conditions, for research and clinical application.
- Developing widely-used software and web-resources for clinical genome interpretation.
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.