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Dr Marta Futema
Paul O’Gorman Building
72 Huntley Street
Tel: 02076796467
  • Research Associate
  • Clinical Science
  • Institute of Cardiovascular Science
  • Faculty of Pop Health Sciences
Research Summary

I’m passionate about human genetic changes and their clinical implications. As more large-scale sequence data are generated every day, novel genetic variants are being discovered, but much work has yet to be done to fully understand the genetic components of disease and health, which subsequently can lead to the identification of novel drug targets.

The main focus of my research is the genetic causes of inherited cardiovascular diseases. 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 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. Our work on FH diagnosis in children has been recently highlighted in the Chief Medical Officer annual report 2016: Generation Genome, as an example of how genomics can improve health and prevent ill-health.

More recently I have been applying bioinformatics and statistical algorithms to discover novel causes of heart muscle diseases, mainly focusing on arrhythmogenic right ventricular cardiomyopathy. 

Teaching Summary

I have been giving lectures for the following programmes:

MSc Cardiovascular Science,

BSc Cellular and Molecular Aspects of Cardiovascular Disease,

MSc Genomic Medicine.


I have been supervising MSc research projects at the MSc Cardiovascular Science course.

Previously Postgraduate Teaching Assistant (2011-2013) at BSc Advanced Human Genetics module.

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
Academic Background
2014 PhD Doctor of Philosophy – Human Genetics University College London
2010 BSc Hons Bachelor of Science – Biotechnology University of East London
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