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Doctor Mafalda Bourbon

National Health Institute Doutor Ricardo Jorge, IP, Lisbon (Portugal)

Mafalda Bourbon, 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). 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. 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. She is also working on a personalized medicine model for FH.

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