Mafalda Bourbon, PhD
Investigadora Principal / Principal Researcher
Mafalda Bourbon é investigadora principal no Instituto Nacional de Saúde Doutor Ricardo Jorge, onde é coordenadora da Unidade de I&D e Responsável pelo Grupo de Investigação Cardiovascular do Departamento de Promoção da Saúde e Prevenção das Doenças Não Transmissíveis. É também professora assistente convidada na Faculdade de Ciências e professora associada convidada na Faculdade de Medicina, ambas da Universidade de Lisboa. Concluiu o doutoramento em Ciências Clínicas em 2006 no Imperial College Faculty of Medicine – Hammersmith Campus, e possui igualmente um mestrado em Medicina Molecular pelo Imperial College London. É presidente do Familial Hypercholesterolaemia Variant Curation Expert Panel at Clinical Genome Resource e investigadora principal nacional de dois registos internacionais de FH (FH Studies Collaboration e International Children FH Registry). Participa ainda na 1 million Genomes Initiative, nos grupos espelho nacionais de sequenciação, normas de interpretação e doenças complexas, e integra o Public Health Group da FH Europe, uma associação de doentes. É membro da direção da Rede Iberoamericana de FH e integra a Comissão Científica da Sociedade Portuguesa de Aterosclerose. Publicou mais de 80 artigos em revistas científicas internacionais (com revisão por pares) e três capítulos de livros. Orientou cinco teses de doutoramento (e coorientou três), estando atualmente a supervisionar duas teses de doutoramento em curso, além de várias dissertações de mestrado. Recebeu três prémios científicos e dez distinções em congressos. Participa ou participou como investigadora principal em 13 projetos, incluindo dois grandes consórcios: PerMedFH (coordenadora) e FH EARLY (líder de WP). Trabalha nas áreas de Ciências Médicas e da Saúde, com ênfase em Medicina Básica, Genética Humana e Medicina Clínica (Cardiologia e Metabolismo). O seu principal foco de investigação são as dislipidemias genéticas, com especial enfoque na Hipercolesterolemia Familiar (FH), desenvolvendo e aplicando métodos para identificar, caracterizar funcionalmente e interpretar variantes encontradas em doentes clínicos com FH e outras dislipidemias. A sua investigação centra-se ainda na identificação de novos genes/mecanismos para a hipercolesterolemia hereditária.
---
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 assistant Professor at Faculdade de Ciências and invited associated professor at Faculdade de Medicina, both from Universidade de Lisboa. 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 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 80 peer review articles in international scientific journals and 3 book chapters. She supervised 5 PhD thesis and co-supervised 3 and has 2 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 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.
---
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 assistant Professor at Faculdade de Ciências and invited associated professor at Faculdade de Medicina, both from Universidade de Lisboa. 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 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 80 peer review articles in international scientific journals and 3 book chapters. She supervised 5 PhD thesis and co-supervised 3 and has 2 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 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.