Rafael Graça, PhD
Pos Doc
Rafael Graça é pós-doc no Grupo de Mafalda Bourbon (Grupo de Investigação Cardiovascular – Instituto Nacional de Saúde Doutor Ricardo Jorge), no âmbito do projecto Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients. Concluiu o doutoramento em Biologia, especialização em Biologia de Sistemas, na Universidade de Lisboa Faculdade de Ciências.
Foi membro do Grupo de Investigação Cardiovascular entre 2017 e 2020, período no qual desenvolveu a sua tese de doutoramento intitulada Functional genomics in familial dyslipidaemia. Entre 2021 e 2024, trabalhou em diagnóstico genético como geneticista molecular na GenoMed® - Diagnósticos de Medicina Molecular SA. Rafael integra o Painel de Especialistas em Classificação de Variantes (Variant Curation Expert Panel) de Hipercolesterolemia Familiar do Clinical Genome Resource, onde trabalha como junior curator. É também membro do Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (Universidade de Lisboa, Portugal).
Ao longo da sua carreira profissional, publicou 7 artigos em revistas científicas especializadas. Já com uma vasta experiência na academia e na indústria, as suas áreas de especialização são a Genética Humana e a Biologia Molecular, tendo-se focado maioritariamente nas dislipidémias genéticas, em particular na Hipercolesterolemia Familiar, em estudos funcionais, na análise de dados de NGS e na interpretação de variantes genéticas.
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Rafael Graça is a postdoc at Mafalda Bourbon’s Lab (Cardiovascular Research Group – National Health Institute Doutor Ricardo Jorge), currently working on the project Personalization of diagnosis and treatment of patients with Familial Hypercholesterolemia. He completed his PhD in Biology, with specialization in Systems Biology, from the Faculty of Sciences of the University of Lisbon.
He was a member of the Cardiovascular Research Group between 2017 and 2020, during which he developed his doctoral thesis entitled Functional genomics in familial dyslipidemia. Between 2021 and 2024, he worked in genetic diagnosis as a molecular geneticist at GenoMed® - Diagnósticos de Medicina Molecular SA. Rafael is a member of the Familial Hypercholesterolemia Variant Curation Expert Panel (FH VCEP) at the Clinical Genome Resource, where he works as a junior curator. He is also a member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical Research and Translation Unit (University of Lisbon, Portugal).
Throughout his professional career, he published 7 articles in specialized scientific peer-reviewed journals. With a diverse range of experience in both academia and industry, Rafael has a strong background in the field of Human Genetics and Molecular Biology, with a major focus on genetic dyslipidemias, in particular Familial Hypercholesterolemia, functional studies, NGS data analysis and the interpretation of genetic variants.
Foi membro do Grupo de Investigação Cardiovascular entre 2017 e 2020, período no qual desenvolveu a sua tese de doutoramento intitulada Functional genomics in familial dyslipidaemia. Entre 2021 e 2024, trabalhou em diagnóstico genético como geneticista molecular na GenoMed® - Diagnósticos de Medicina Molecular SA. Rafael integra o Painel de Especialistas em Classificação de Variantes (Variant Curation Expert Panel) de Hipercolesterolemia Familiar do Clinical Genome Resource, onde trabalha como junior curator. É também membro do Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (Universidade de Lisboa, Portugal).
Ao longo da sua carreira profissional, publicou 7 artigos em revistas científicas especializadas. Já com uma vasta experiência na academia e na indústria, as suas áreas de especialização são a Genética Humana e a Biologia Molecular, tendo-se focado maioritariamente nas dislipidémias genéticas, em particular na Hipercolesterolemia Familiar, em estudos funcionais, na análise de dados de NGS e na interpretação de variantes genéticas.
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Rafael Graça is a postdoc at Mafalda Bourbon’s Lab (Cardiovascular Research Group – National Health Institute Doutor Ricardo Jorge), currently working on the project Personalization of diagnosis and treatment of patients with Familial Hypercholesterolemia. He completed his PhD in Biology, with specialization in Systems Biology, from the Faculty of Sciences of the University of Lisbon.
He was a member of the Cardiovascular Research Group between 2017 and 2020, during which he developed his doctoral thesis entitled Functional genomics in familial dyslipidemia. Between 2021 and 2024, he worked in genetic diagnosis as a molecular geneticist at GenoMed® - Diagnósticos de Medicina Molecular SA. Rafael is a member of the Familial Hypercholesterolemia Variant Curation Expert Panel (FH VCEP) at the Clinical Genome Resource, where he works as a junior curator. He is also a member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical Research and Translation Unit (University of Lisbon, Portugal).
Throughout his professional career, he published 7 articles in specialized scientific peer-reviewed journals. With a diverse range of experience in both academia and industry, Rafael has a strong background in the field of Human Genetics and Molecular Biology, with a major focus on genetic dyslipidemias, in particular Familial Hypercholesterolemia, functional studies, NGS data analysis and the interpretation of genetic variants.
Principais Publicações/Main Publications:
High-Throughput Microscopy Characterization of Rare LDLR Variants
R. Graça, M. Zimon, A. C. Alves, R. Pepperkok, M. Bourbon
JACC: Basic to Translational Science, vol. 8(8), 2023 Aug 28, pp. 1010-1021
R. Graça, A. Alves, M. Zimon, R. Pepperkok, M. Bourbon
Journal of clinical lipidology, vol. 16(4), 2022, pp. 516-524
R. Graça, R. Fernandes, A. Alves, J. Menezes, L. Romão, M. Bourbon
Biomedicines, vol. 9(9), 2021 Sep 14, p. 1219
