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Dr Marta Futema
G05
Paul O’Gorman Building
72 Huntley Street
London
WC1E 6DD
Tel: 02076796467
Appointment
  • Research Associate
  • Clinical Science
  • Institute of Cardiovascular Science
  • Faculty of Pop Health Sciences
Research Summary

Cardiovascular diseases account for about 30% of premature deaths globally. Studying rare and common variations in human genome can pinpoint novel disease pathways and drug targets, help to predict the individual disease risk, provide accurate diagnosis, which together should lead to appropriate disease prevention or management.

I have been studying inherited cardiovascular diseases since my PhD project, conducted under the supervision of Prof Steve Humphries and Dr Vincent Plagnol, at the UCL Genetics Institute. In my thesis and later postdoctoral work I have been looking at the genetic architecture of Familial Hypercholesterolaemia (FH), disease characterised by high LDL-cholesterol levels from birth, which affects roughly one in 250 individuals. My studies 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 and more recently the 100 000 Genomes project, I have been investigating novel causes of FH using next generation sequencing (NGS) of whole exomes and genomes. 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 on sequencing data to understand the genetics of heart muscle diseases, mainly focusing on arrhythmogenic right ventricular cardiomyopathy and hypertrophic cardiomyopathy.

I’m passionate about analysing the upcoming large scale sequencing and health records data in order to better understand the aetiology of inherited cardiovascular diseases.


Teaching Summary

I give lectures for the following programmes:

  • MSc Cardiovascular Science 
  • BSc Cellular and Molecular Aspects of Cardiovascular Disease
  • MSc Genomic Medicine
I have supervised MSc research projects (MSc Cardiovascular Science) and British Heart Foundation Cardiovascular Biomedicine PhD project.

During my PhD (2011-2013) I also worked as a Postgraduate Teaching Assistant for the BSc Advanced Human Genetics module.  

Appointments
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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