Dr Marta Futema
Variant Discovery and Clinical Interpretation LeadDr Marta Futema is a lecturer and researcher in cardiovascular genetics at City St George’s, University of London. Her work focuses on the genomics of cardiovascular disease, particularly dyslipidaemia. She investigates the genetic basis of high cholesterol, inherited cardiac arrhythmias and cardiomyopathies, using patient cohorts and large-scale resources such as the UK Biobank and the 100,000 Genomes Project.
She has expertise in statistical genetics, integrating rare variant analysis, genome-wide association studies and polygenic risk scores to improve understanding of disease mechanisms and variant interpretation. She is also an expert reviewer for the Familial Hypercholesterolaemia Variant Curation Expert Panel.
Alongside her research, Dr Futema contributes to teaching on the MSc Genomic Medicine programme and leads the Genomics of Cardiovascular Disease module, part of the NHS England Genomics Education Programme. She co-leads the Variant Discovery and Clinical Interpretation Community at Genomics England, supporting collaboration to advance genomic discovery and its translation into patient care.