Principal Investigator: Dr James Ware
Institution: Imperial College LondonTags: 47602, Cardiomyopathy, Chronic kidney disease, genetic modifiers, Heart failure, Inherited Cardiac Conditions, penetrance
Inherited cardiac conditions, such as hypertrophic or dilated cardiomyopathy, and more general cardiac or renal failure can affect people of any age and may be life-threatening. They may be caused by a single faulty copy of a gene that can passed from parent to child or due to gene variants in disease pathways. While the symptoms can be managed, there are currently few treatments that address the underlying cause of either ICCs or cardiorenal disease. There is also enormous variability in how these conditions manifest and progress: while many patients have few or no symptoms, others have severe symptoms, require heart or kidney transplant, or suffer life-threatening arrhythmias.
We aim to better understand the genetic basis of these conditions, for improved diagnosis and to identify new treatments; to identify potentially avoidable environmental contributors; and to identify patients most likely to benefit from more intensive advanced therapies.