Special Offer: Get 50% off your first 2 months when you do one of the following
Personalized offer codes will be given in each session
Name
Mafalda Bourbon
Title
Prof
Bio
Lisbon, Portugal
Mafalda Bourbon, completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She is currently 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. There she is also the coordinator of the Portuguese Familial Hypercholesterolaemia Study and invited Professor at Universidade de Lisboa Faculdade de Ciências and integrated member of the BioSystem and Integrative Sciences Institutte (BioISI).
Prof Bourbon 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 is a board member of the Iberoamerican FH network. 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.
Prof Bourbon's 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. She published more than 50 peer review articles in international scientific journals and 2 book chapters. She received 3 scientific awards.
Mafalda Bourbon, completed her PhD in Clinical Sciences in 2006 at Imperial College Faculty of Medicine - Hammersmith Campus. She is currently 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. There she is also the coordinator of the Portuguese Familial Hypercholesterolaemia Study and invited Professor at Universidade de Lisboa Faculdade de Ciências and integrated member of the BioSystem and Integrative Sciences Institutte (BioISI).
Prof Bourbon 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 is a board member of the Iberoamerican FH network. 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.
Prof Bourbon's 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. She published more than 50 peer review articles in international scientific journals and 2 book chapters. She received 3 scientific awards.
