Ana Catarina Alves, PhD


Investigadora Auxiliar / Researcher


 Projectos/Projects: EPFH, DFs, FunGen

Ana Catarina Alves é investigadora auxiliar no Instituto Nacional de Saúde Doutor Ricardo Jorge. Concluiu o doutoramento em Bioquímica na Faculdade de Ciências da Universidade de Lisboa.
Desde 2003 integra a equipa laboratorial do Grupo de Investigação Cardiovascular liderado por Mafalda Bourbon. É também membro integrado do Instituto de Biossistemas e Ciências Integrativas (BioISI), Unidade de Investigação Biomédica e Translacional (Universidade de Lisboa), membro do Familial Hypercholesterolemia Variant Curation Expert Panel (biocurator) at Clinical Genome Resource (cardiovascular working group)e membro da Rede Iberoamericana de FH.

Publicou 37 artigos em revistas científicas internacionais (com revisão por pares) e 2 capítulos de livros. Orientou quatro dissertações de mestrado, recebeu três prémios científicos e quatro distinções em congressos. É investigadora principal de um projeto e investigadora membro em oito outros. O seu principal foco de investigação são as dislipidemias genéticas, com ênfase na Hipercolesterolemia Familiar (FH), trabalhando em estudos funcionais, NGS e interpretação de variantes em doentes com FH e outras dislipidemias. Atualmente é gestora do projeto “Estudo das Dislipidemias Familiares Monogénicas Raras” no Instituto Nacional de Saúde (Lisboa).

---

Ana Catarina Alves is a researcher at National Institute of Health Doutor Ricardo Jorge. She completed her PhD in Biochemistry at Faculdade de Ciências da Universidade de Lisboa, Portugal.
Since 2003 is member of the laboratory team of Mafalda Bourbon’s Group (Cardiovascular Research Group). She is also an integrated member of the Biosystems & Integrative Sciences Institute (BioISI), Biomedical and Translation Research Unit (University of Lisbon, Portugal), member of the Familial Hypercholesterolemia Variant Curation Expert Panel (biocurator) at Clinical Genome Resource (cardiovascular working group) and member of the Iberoamerican FH network.
 
 She published 37 peer review articles in international scientific journals and 2 book chapters. She supervised 4 MSc dissertations. She received 3 scientific awards and 4 prizes in congress. She is a Principal investigator in one project and is Researcher member in 8 projects. Her main field of research is genetic dyslipidaemia with a special focus on Familial Hypercholesterolaemia (FH), where she works with functional studies, NGS and interpret variants found in clinical FH patients and other dyslipidaemia patients. Currently, she is the project manager of the Study of rare monogenic familial dyslipidaemias at the National Institute of Health (Lisbon, Portugal).


Principais Publicações/Main Publications:

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal


A. Alves, B. Miranda, O. Moldovan, R. E. Santo, R. G. Silva, S. S. Cardoso, L. Diogo, M. Seidi, S. Sequeira, M. Bourbon

Frontiers in Genetics, vol. 13, 2023 Apr 17, pp. 1-13


LDLR variants functional characterization: Contribution to variant classification.


A. Alves, S. Azevedo, A. Benito-Vicente, R. Graça, U. Galicia-Garcia, P. Barros, P. Jordan, César Martín, M. Bourbon

Atherosclerosis, vol. 329, 2021 Jul, pp. 14-21


Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica


A. Alves, R. Alonso, J. Díaz-Díaz, A. Medeiros, (...), P. Mata, M. Bourbon, R. Santos

Arteriosclerosis, thrombosis, and vascular biology, vol. 40(10), 2020, pp. 2508-2515


Genomics of familial hypercholesterolaemia


A. Alves, J. Chora, M. Bourbon

Current opinion in lipidology, vol. 30(2), 2019, pp. 148-150


Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.


A. Alves, A. Benito-Vicente, A. Medeiros, Kaajal Reeves, César Martín, M. Bourbon

Atherosclerosis, vol. 277, 2018 Oct 1, pp. 448-456


Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity


J. Fernández-Higuero, A. Etxebarria, A. Benito-Vicente, A. Alves, J. Arrondo, H. Ostolaza, M. Bourbon, C. Martin

Scientific reports, vol. 5, 2015 Dec 8, p. 18184


The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia


A. Benito-Vicente, A. Alves, A. Etxebarria, A. M. Medeiros, César Martín, M. Bourbon

Genetics in Medicine, vol. 17(12), 2015 Dec 1, pp. 980-988


Characterization of the first PCSK9 gain of function homozygote.


A. Alves, A. Etxebarria, A. Medeiros, A. Benito-Vicente, A. Thédrez, Maxime Passard, M. Croyal, César Martín, G. Lambert, M. Bourbon

Journal of the American College of Cardiology, vol. 66(19), 2015 Nov 10, pp. 2152-2154

Share

Tools
Translate to