Prof. Dr. Mafalda Bourbon
Prof. Dr. Mafalda Bourbon, is a senior researcher at Instituto Nacional de Saúde Doutor Ricardo Jorge where she is the coordinator of the R&D Unit and Head of the Cardiovascular Research Group at the Department of Health Promotion and Prevention of non-Communicable Diseases.
She is also an assistant Professor at Universidade de Lisboa Faculdade de Ciências.
She completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She also holds a MSc in Molecular Medicine by Imperial College London. 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). She also participates in the 1 Million Genomes Initiative in the country mirror groups on sequencing and interpretation standards and complex disorders and is part of the Public Health Group at FH Europe, a patients association initiative. She is a board member of the Iberoamerican FH network and is part of the Scientific Committee of the Portuguese Atherosclerosis Society.
She published 68 peer review articles in international scientific journals and 3 book chapters. She supervised 3 PhD thesis and co-supervised 2, and has 3 ongoing full PhD supervisions and 2 co-supervisions. She also supervised several MSc dissertations.
She received 3 scientific awards and 9 prizes in congress. Participates and/or participated as Principal investigator in 13 projects and is Researcher member in 8 projects.
She works in the areas of Medical and Health Sciences with emphasis on Basic Medicine, Human Genetics and Clinical Medicine (Cardiology and Metabolism).
Her main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH) developing and applying methods to identify, functionally characterize and interpret variants found in clinical FH patients and other dyslipidaemia patients.
Her research also focus on the identification of new targets for inherited hypercholesterolaemia.
She is also working on a personalized medicine model for FH.