CMSeminar – Familial Hypercholesterolemia – from genetics to functional genomics to personalised medicine
📢 Join us for the next 𝗖𝗠𝗦𝗲𝗺𝗶𝗻𝗮𝗿 on October 22th, 2025 titled “Familial Hypercholesterolemia – from genetics to functional genomics to personalised medicine”!
🕧 𝗧𝗶𝗺𝗲: 12:30 PM
📍 𝗟𝗼𝗰𝗮𝘁𝗶𝗼𝗻: Católica Medical School, Multicare Auditorium
Mafalda Bourbon, is a principal 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 Invited Associated Professor and co-Head of the Molecular Medicine in Dyslipidaemia and Diabetes, Cardiovascular Center of the University of Lisbon, Faculdade de Medicina, Universidade de Lisboa. She completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine and she also holds a MSc in Molecular Medicine by Imperial College London.
Mafalda 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 (EAS FH Studies Collaboration and International Children FH Registry). MB is in the steering committee for EAS Paediatric Lipid Group and she is also a member of the Scientific Committee of the FH Europe Foundation, a patient 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 more than 90 peer review articles in international scientific journals and 3 book chapters.
Mafalda supervised 5 PhD thesis and co-supervised 3 and has 3 ongoing full PhD supervisions. She also supervised several MSc dissertations. She received 3 scientific awards and 10 prizes in congress. Participates and/or participated as Principal investigator in 13 projects, including 2 large consortiums: PerMedFH (coordinator) and FH EARLY (WP leader).
She also participated, as a member, in another 13 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 focuses on the identification of new genes/mechanisms for inherited hypercholesterolaemia.
👉 The session will be hosted by António de Almeida.
💡 Free and open to the academic community!