Radcliffe Department of Medicine (Division of Cardiovascular Medicine), University of Oxford
Inherited cardiomyopathies, especially hypertrophic cardiomyopathy (HCM), are polygenic in nature, meaning they are caused by a myriad of genetic variants (mutations), some of which are rare and others common. Many of these variants remain to be discovered and further understood, and they contribute toward the disease through different pathomechanism. My research focuses on modelling and understanding the function of some of these novel variants identified in recent published population (GWAS) studies, using techniques such as iPSC-derived cardiomyocytes, CRISPR/Cas-9 genome editing, and engineered heart tissues. Through better understanding how these new genes (and proteins) cause HCM, we can then aim to develop targeted therapies for the disease.
My background is in clinical medicine, having trained at the University of Cape Town and finished my junior doctor years in South Africa.