Mafalda Bourbon is a senior researcher at the National Institute of Health, Portugal (INSA) and a research and invited professor at Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon. She completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She is the Chair of the Familial Hypercholesterolaemia Variant Curation Expert Panel at Clinical Genome Resource and the National lead Investigator of 2 international FH registries (FH Studies Collaboration and International Children FH Registry). MB is also part of the Public Health Group at FH Europe Foundation. She is a board member of the Iberoamerican FH network and is part of the Scientific Committee of the Portuguese Atherosclerosis Society. 

Her main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH). Her laboratory develops and applies methods to identify, functionally characterise and interpret variants found in patients with clinical diagnosis of FH and other dyslipidemias. MB also develops work in the area of cardiovascular prevention and cardiovascular risk, developing population-based studies in cardiovascular risk factors, in genetic dyslipidemias and monogenic diabetes. MB is founder and coordinator of the Portuguese Familial Hypercholesterolaemia Study (1999-present), the Rare Dyslipidaemia Study (2012-present) and the Molecular Study of Monogenic Diabetes (2015-present). She has published more than 70 international scientific journal articles and 3 book chapters.