Cardiovascular Genetics and Development
Manchester hosts a nationally-recognised service for patients with familial sudden death syndromes based around a joint cardiology/clinical genetics initiative at CMFT.
In 2010 a group, chaired by Professor Garratt, published the first specific guidance on indications for implantable defibrillators in these conditions. This, together with an earlier paper on indications for genetic testing, forms the core reference material for operation of Inherited Cardiac Conditions Clinics nationwide. Current research is focused on the development of novel genetic testing strategies in the evaluation of young sudden death victims (Newman) and the appropriate selection of young patients for the newer generation of implantable defibrillators.
Professor Keavney’s group recently conducted the world’s first genome-wide studies of congenital heart disease; their findings suggest that the application of next-generation sequencing technologies to detection of copy number and single nucleotide genetic variation may be of benefit in individualised risk stratification of high-risk families. We plan to test this in collaboration with investigators in the Human Development domain and Adult Congenital Heart Disease service at CMFT, which is an integrated service spanning Greater Manchester and the North of England. This service has led to a demonstrably much improved diagnostic and therapeutic service, with noticeable firsts with percutaneous pulmonary and mitral valve implants.