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- Research Associate
- Centre for Cardiology in the Young
- Institute of Cardiovascular Science
- Faculty of Pop Health Sciences
My research focuses on the genetics of inherited cardiovascular diseases. While at the Department for Cardiovascular Genetics, led by Prof Steve Humphries, I have been involved in several studies looking at the genetic architecture of Familial Hypercholesterolaemia (FH) and lipid metabolism. These included analysis of the monogenic FH mutation spectrum, and an investigation of the polygenic cause of hypercholesterolaemia using ‘gene score’ approaches. In collaboration with the Wellcome Trust UK10K project, I have been investigating novel causes of FH using next generation sequencing (NGS) of whole exomes. I have also developed a targeted NGS assay as a routine method for diagnosis of FH in our lab.
More recently, I have joined a group led by Prof W.J. McKenna, where I am using bioinformatics approaches to explore novel causes of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a rare disease of the heart muscle.
|01-JUL-2015||Research Associate||Centre for Cardiology in the Young||University College London, United Kingdom|
|01-OCT-2013 – 30-JUN-2015||Research Associate||Cardiovascular Genetics||University College London, United Kingdom|
|2014||PhD||Doctor of Philosophy – Human Genetics||University College London|
|2010||BSc Hons||Bachelor of Science – Biotechnology||University of East London|