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Mafalda Bourbon, is a senior 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 assistant Professor at Universidade de Lisboa Faculdade de Ciências. 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 patients 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 68 peer review articles in international scientific journals and 3 book chapters. She supervised 3 PhD thesis and co-supervised 2, and has 3 ongoing full PhD supervisions and 2 co-supervisions. She also supervised several MSc dissertations. She received 3 scientific awards and 9 prizes in congress. Participates and/or participated as Principal investigator in 13 projects and is Researcher member in 8 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 focus on the identification of new targets for inherited hypercholesterolaemia. She is also working on a personalized medicine model for FH.
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Identificação

Identificação pessoal

Nome completo
Mafalda Bourbon

Nomes de citação

  • Bourbon, Mafalda

Identificadores de autor

Ciência ID
4B19-52C6-8C6F
ORCID iD
0000-0001-8843-3799

Endereços de correio eletrónico

  • mafalda.bourbon@insa.min-saude.pt (Profissional)

Telefones

Telefone
  • 217508126 Ext.: 1526 (Profissional)

Moradas

  • Instituto Nacional de saúde Doutor Ricardo Jorge, Av Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Profissional)

Websites

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica - Genética Humana
Formação
Grau Classificação
2006
Concluído
 PhD in Clinical Sciences (Doutoramento)
Imperial College Faculty of Medicine - Hammersmith Campus, Reino Unido
"Characterization of molecular defects of Portuguese patients with familial hypercholesterolemia" (TESE/DISSERTAÇÃO)
 Aproved (the university does not have a score syst
1997
Concluído
 MSc in Molecular Medicine (Mestrado)
Imperial College London, Reino Unido
"Identification and characterisation of mutations in the LDL receptor gene of patients with familial hypercholesterolemia" (TESE/DISSERTAÇÃO)
 75%
1996
Concluído
 Licenciatura em Microbiologia (Licenciatura)
Universidade Católica Portuguesa Escola Superior de Biotecnologia, Portugal
"na" (TESE/DISSERTAÇÃO)
 15
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento 		Empregador
2019/10/01 - Atual Investigador Auxiliar (carreira) (Investigação) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2009/09/01 - 2019/09/30 Investigador Auxiliar Convidado (carreira) (Investigação) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2005/04/01 - 2009/08/31 Investigador Contratado (Investigação) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1997/09/01 - 1998/08/31 Assistente de Investigação (carreira) (Investigação) Medical Research Center Lipoprotein Team, Reino Unido
Medical Research Center Lipoprotein Team, Reino Unido

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento 		Empregador
2014 - Atual Professor Auxiliar (Docente Universitário) Universidade de Lisboa Faculdade de Ciências, Portugal
Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Produções

Publicações

Artigo em revista
  1. Chora, Joana R.; Iacocca, Michael A.; Tichý, Lukáš; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; et al. "The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification". Genetics in Medicine 24 2 (2022): 293-306. http://dx.doi.org/10.1016/j.gim.2021.09.012.
    10.1016/j.gim.2021.09.012
  2. Tromp, Tycho R; Hartgers, Merel L; Hovingh, G Kees; Vallejo-Vaz, Antonio J; Ray, Kausik K; Soran, Handrean; Freiberger, Tomas; et al. "Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study". The Lancet 399 10326 (2022): 719-728. http://dx.doi.org/10.1016/s0140-6736(21)02001-8.
    10.1016/s0140-6736(21)02001-8
  3. Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marília. "Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects". Scientific Reports 12 1 (2022): http://dx.doi.org/10.1038/s41598-022-05063-8.
    10.1038/s41598-022-05063-8
  4. Medeiros, Ana Margarida; Bourbon, Mafalda. "Polygenic contribution for familial hypercholesterolemia (FH)". Current Opinion in Lipidology 32 6 (2021): 392-395. http://dx.doi.org/10.1097/mol.0000000000000787.
    10.1097/mol.0000000000000787
  5. Vallejo-Vaz, Antonio J.; Stevens, Christophe A.T.; Lyons, Alexander R.M.; Dharmayat, Kanika I.; Freiberger, Tomas; Hovingh, G. Kees; Mata, Pedro; et al. "Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)". The Lancet 398 10312 (2021): 1713-1725. http://dx.doi.org/10.1016/s0140-6736(21)01122-3.
    10.1016/s0140-6736(21)01122-3
  6. Ferrinho, Cátia; Alves, Ana Catarina; Bourbon, Mafalda; Duarte, Sequeira. "Applicability of Martin-Hopkins formula and comparison with Friedewald formula for estimated low-density lipoprotein cholesterol in e_COR study population". Revista Portuguesa de Cardiologia (English Edition) 40 10 (2021): 715-724. http://dx.doi.org/10.1016/j.repce.2021.07.001.
    10.1016/j.repce.2021.07.001
  7. Graça, Rafael; Fernandes, Rafael; Alves, Ana Catarina; Menezes, Juliane; Romão, Luísa; Bourbon, Mafalda. "Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes". Biomedicines 9 9 (2021): 1219. http://dx.doi.org/10.3390/biomedicines9091219.
    10.3390/biomedicines9091219
  8. Alves, Ana Catarina; Azevedo, Sílvia; Benito-Vicente, Asier; Graça, Rafael; Galicia-Garcia, Unai; Barros, Patrícia; Jordan, Peter; Martin, Cesar; Bourbon, Mafalda. "LDLR variants functional characterization: Contribution to variant classification". Atherosclerosis 329 (2021): 14-21. http://dx.doi.org/10.1016/j.atherosclerosis.2021.06.001.
    10.1016/j.atherosclerosis.2021.06.001
  9. Correia, Marta; Kagenaar, Eva; van Schalkwijk, Daniël Bernardus; Bourbon, Mafalda; Gama-Carvalho, Margarida. "Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia". Scientific Reports 11 1 (2021): http://dx.doi.org/10.1038/s41598-021-83392-w.
    10.1038/s41598-021-83392-w
  10. Bourbon, Mafalda. "Pharmacogenomics of statins and familial hypercholesterolemia.". Curr Opin Lipidol. 2021 Apr 1;32(2):96-102. doi: 10.1097/MOL.0000000000000746.PMID: 33591029 (2021):
    No prelo
  11. Bourbon, Mafalda. "The 2-hydroxy-nevirapine metabolite as a candidate for boosting apolipoprotein A1 and for modulating anti-HDL antibodies.". Pharmacol Res. 2021 Jan 27:105446. doi: 10.1016/j.phrs.2021.105446. PMID: 33515705 (2021):
  12. Bourbon, Mafalda. "Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.". Atherosclerosis. 2021 Feb;319:108-117. doi: 10.1016/j.atherosclerosis.2021.01.008. Epub 2021 Jan 13.PMID: 33508743 (2021):
    No prelo
  13. Bourbon, Mafalda. "Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia.". Sci Rep. 2021 Feb 15;11(1):3801. doi: 10.1038/s41598-021-83392-w.PMID: 33589716 (2021):
    Publicado
  14. Bourbon, Mafalda. "Brown Algae Potential as a Functional Food against Hypercholesterolemia: Review.". Foods. 2021 Jan 24;10(2):234. doi: 10.3390/foods10020234.PMID: 33498824 (2021):
    Publicado
  15. Leitão, Jorge; Carvalhana, Sofia; Cochicho, Joana; Silva, Ana Paula; Velasco, Francisco; Medeiros, Isabel; Alves, Ana Catarina; et al. "Prevalence and risk factors of fatty liver in Portuguese adults". European Journal of Clinical Investigation (2020): http://dx.doi.org/10.1111/eci.13235.
    Publicado • 10.1111/eci.13235
  16. Machado, M.V.; Policarpo, S.; Coutinho, J.; Carvalhana, S.; Leitão, J.; Carvalho, A.; Silva, A.P.; et al. "What Is the Role of the New Index Relative Fat Mass (RFM) in the Assessment of Nonalcoholic Fatty Liver Disease (NAFLD)?". Obesity Surgery 30 2 (2020): 560-568. http://www.scopus.com/inward/record.url?eid=2-s2.0-85074606382&partnerID=MN8TOARS.
    10.1007/s11695-019-04213-8
  17. Mariano, C.; Alves, A.C.; Medeiros, A.M.; Chora, J.R.; Antunes, M.; Futema, M.; Humphries, S.E.; Bourbon, M.. "The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes". Clinical Genetics 97 3 (2020): 457-466. http://www.scopus.com/inward/record.url?eid=2-s2.0-85079562535&partnerID=MN8TOARS.
    10.1111/cge.13697
  18. Ramaswami, U.; Futema, M.; Bogsrud, M.P.; Holven, K.B.; Roeters van Lennep, J.; Wiegman, A.; Descamps, O.S.; et al. "Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries". Atherosclerosis 292 (2020): 178-187. http://www.scopus.com/inward/record.url?eid=2-s2.0-85075795827&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2019.11.012
  19. Bourbon, Mafalda; Alves, AC. "Phenotypical, Clinical and Molecular Aspects of Adults and Children with Homozygous Familial Hypercholesterolemia in Iberoamerican Countries.". Arteriosclerosis Thrombosis and Vascular Biology (2020): 147.
    Em revisão
  20. Banerjee, P.; Chan, K.-C.; Tarabocchia, M.; Benito-Vicente, A.; Alves, A.C.; Uribe, K.B.; Bourbon, M.; et al. "Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity". Arteriosclerosis, Thrombosis, and Vascular Biology 39 11 (2019): 2248-2260. http://www.scopus.com/inward/record.url?eid=2-s2.0-85074119007&partnerID=MN8TOARS.
    10.1161/ATVBAHA.119.313051
  21. Alves, A.C.; Chora, J.R.; Bourbon, M.. "Genomics of familial hypercholesterolaemia". Current Opinion in Lipidology 30 2 (2019): 148-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062631150&partnerID=MN8TOARS.
    10.1097/MOL.0000000000000584
  22. Lima, A.; Ferin, R.; Bourbon, M.; Baptista, J.; Leonor Pavao, M.. "Hypercysteinemia, A Potential Risk Factor for Central Obesity and Related Disorders in Azores, Portugal". Journal of Nutrition and Metabolism 2019 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85068856129&partnerID=MN8TOARS.
    10.1155/2019/1826780
  23. Ana C. Alves; Rafael Graça; Mafalda Bourbon. "Improving Familial Hypercholesterolaemia Diagnosis – Functional in Vitro Analysis of LDLR Missense Variants Found in the Portuguese FH Cohort". Atherosclerosis Supplements 32 (2018): 54-54. https://doi.org/10.1016%2Fj.atherosclerosissup.2018.04.162.
    10.1016/j.atherosclerosissup.2018.04.162
  24. Iacocca, Michael A.; Chora, Joana R.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; et al. "ClinVar database of global familial hypercholesterolemia-associated DNA variants". (2018): http://hdl.handle.net/10400.18/5620.
    10.1002/humu.23634
  25. Futema, Marta; Bourbon, Mafalda; Williams, Maggie; Humphries, Steve E.. "Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia". (2018): http://hdl.handle.net/10400.18/5647.
    10.1016/j.atherosclerosis.2018.06.006
  26. Leitão, Jorge; Carvalhana, Sofia; Silva, Ana Paula; Velasco, Francisco; Medeiros, Isabel; Alves, Ana Catarina; Bourbon, Mafalda; et al. "No Evidence for Lower Levels of Serum Vitamin D in the Presence of Hepatic Steatosis. A Study on the Portuguese General Population". (2018): http://hdl.handle.net/10400.18/5932.
    10.7150/ijms.26586
  27. Alves, Ana Catarina; Benito-Vicente, Asier; Medeiros, Ana Margarida; Reeves, Kaajal; Martin, Cesar; Bourbon, Mafalda. "Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia". (2018): http://hdl.handle.net/10400.18/5622.
    10.1016/j.atherosclerosis.2018.06.819
  28. EAS Familial Hypercholesterolaemia Studies Collaboration; Vallejo-Vaz, Antonio J.; De Marco, Martina; Stevens, Christophe A.T.; Akram, Asif; Freiberger, Tomas; Hovingh, G. Kees; et al. "Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)". (2018): http://hdl.handle.net/10400.18/5621.
    10.1016/j.atherosclerosis.2018.08.051
  29. Sturm, Amy C.; Knowles, Joshua W.; Gidding, Samuel S.; Ahmad, Zahid S.; Ahmed, Catherine D.; Ballantyne, Christie M.; Baum, Seth J.; et al. "Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel". (2018): http://hdl.handle.net/10400.18/5603.
    10.1016/j.jacc.2018.05.044
  30. Chora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.. "Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: Application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis". Genetics in Medicine 20 6 (2018): 591-598. http://www.scopus.com/inward/record.url?eid=2-s2.0-85047200479&partnerID=MN8TOARS.
    10.1038/gim.2017.151
  31. Bourbon, Mafalda; Bourbon, M.; Alves, A.C.; Alonso, R.; Mata, N.; Aguiar, P.; Padró, T.; Mata, P.. "Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.". Atherosclerosis 262 (2017): 8-13. http://www.scopus.com/inward/record.url?eid=2-s2.0-85018946686&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2017.04.002
  32. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar". (2017): http://hdl.handle.net/10400.18/4761.
  33. Bañares, V.G.; Corral, P.; Medeiros, A.M.; Araujo, M.B.; Lozada, A.; Bustamante, J.; Cerretini, R.; et al. "Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina". Journal of Clinical Lipidology 11 2 (2017): 524-531. http://www.scopus.com/inward/record.url?eid=2-s2.0-85017401391&partnerID=MN8TOARS.
    10.1016/j.jacl.2017.02.007
  34. Santos, R.D.; Bourbon, M.; Alonso, R.; Cuevas, A.; Vasques-Cardenas, N.A.; Pereira, A.C.; Merchan, A.; et al. "Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries". Journal of Clinical Lipidology 11 1 (2017): 160-166. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008240149&partnerID=MN8TOARS.
    10.1016/j.jacl.2016.11.004
  35. Bourbon, M.; Alves, A.C.; Sijbrands, E.J.. "Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia". Current Opinion in Lipidology 28 2 (2017): 120-129. http://www.scopus.com/inward/record.url?eid=2-s2.0-85011857392&partnerID=MN8TOARS.
    10.1097/MOL.0000000000000404
  36. Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; et al. "Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?". Journal of Clinical Lipidology 11 2 (2017): 477-484.e2. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019089332&partnerID=MN8TOARS.
    10.1016/j.jacl.2016.11.002
  37. Lima-Martínez, M.M.; Paoli, M.; Vázquez-Cárdenas, A.; Magaña-Torres, M.T.; Guevara, O.; Muñoz, M.C.; Parrilla-Alvarez, A.; et al. "Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela,Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela". Endocrinologia, Diabetes y Nutricion 64 8 (2017): 432-439. http://www.scopus.com/inward/record.url?eid=2-s2.0-85021733330&partnerID=MN8TOARS.
    10.1016/j.endinu.2017.05.007
  38. Vallejo-Vaz, A.J.; Akram, A.; Kondapally Seshasai, S.R.; Cole, D.; Watts, G.F.; Hovingh, G.K.; Kastelein, J.J.P.; et al. "Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration". Atherosclerosis Supplements 22 (2016): 1-32. http://www.scopus.com/inward/record.url?eid=2-s2.0-85006713689&partnerID=MN8TOARS.
    10.1016/j.atherosclerosissup.2016.10.001
  39. Morgado, J.P.; Monteiro, C.P.; Teles, J.; Reis, J.F.; Matias, C.; Seixas, M.T.; Alvim, M.G.; et al. "Immune cell changes in response to a swimming training session during a 24-h recovery period". Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme 41 5 (2016): 476-483. http://www.scopus.com/inward/record.url?eid=2-s2.0-85011949622&partnerID=MN8TOARS.
    10.1139/apnm-2015-0488
  40. Carvalhana, S.C.; Leitão, J.; Alves, A.C.; Bourbon, M.; Cortez-Pinto, H.. "Hepatitis B and C prevalence in Portugal: Disparity between the general population and high-risk groups". European Journal of Gastroenterology and Hepatology 28 6 (2016): 640-644. http://www.scopus.com/inward/record.url?eid=2-s2.0-84957837615&partnerID=MN8TOARS.
    10.1097/MEG.0000000000000608
  41. Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda. "Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement". (2015): http://hdl.handle.net/10400.18/3107.
    10.1038/gim.2015.71
  42. Gaio, Vânia; Picanço, Isabel; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; et al. "Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in Portugal". (2015): http://hdl.handle.net/10400.18/3484.
    10.1159/000373920
  43. Alves, Ana Catarina; Etxebarria, Aitor; Medeiros, Ana Margarida; Benito-Vicente, Asier; Thedrez, Aurélie; Passard, Maxime; Croyal, Mikaël; et al. "Characterization of the First PCSK9 Gain of Function Homozygote". (2015): http://hdl.handle.net/10400.18/3277.
    10.1016/j.jacc.2015.08.871
  44. Fernández-Higuero, J.A.; Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Arrondo, J.L.R.; Ostolaza, H.; Bourbon, M.; Martin, C.. "Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity". Scientific Reports 5 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84949524038&partnerID=MN8TOARS.
    10.1038/srep18184
  45. Hopkins, P.N.; Defesche, J.; Fouchier, S.W.; Bruckert, E.; Luc, G.; Cariou, B.; Sjouke, B.; et al. "Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment with Alirocumab, a PCSK9 Monoclonal Antibody". Circulation: Cardiovascular Genetics 8 6 (2015): 823-831. http://www.scopus.com/inward/record.url?eid=2-s2.0-84948580064&partnerID=MN8TOARS.
    10.1161/CIRCGENETICS.115.001129
  46. Vallejo-Vaz, A.J.; Kondapally Seshasai, S.R.; Cole, D.; Hovingh, G.K.; Kastelein, J.J.P.; Mata, P.; Raal, F.J.; et al. "Familial hypercholesterolaemia: A global call to arms". Atherosclerosis 243 1 (2015): 257-259. http://www.scopus.com/inward/record.url?eid=2-s2.0-84942509791&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2015.09.021
  47. Benito-Vicente, A.; Alves, A.C.; Etxebarria, A.; Medeiros, A.M.; Martin, C.; Bourbon, M.. "The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia". Genetics in Medicine 17 12 (2015): 980-988. http://www.scopus.com/inward/record.url?eid=2-s2.0-84941337248&partnerID=MN8TOARS.
    10.1038/gim.2015.14
  48. Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; et al. "Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in Portugal". (2014): http://hdl.handle.net/10400.18/2118.
    doi:10.1186/1758-5996-6-23
  49. Etxebarria, A.; Benito-Vicente, A.; Alves, A.C.; Ostolaza, H.; Bourbon, M.; Martin, C.. "Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment". PLoS ONE 9 11 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84914680437&partnerID=MN8TOARS.
    10.1371/journal.pone.0112677
  50. Rocha, T.; Rocha, E.; Alves, A.C.; Medeiros, A.M.; Francisco, V.; Silva, S.; Mendes Gaspar, I.; et al. "Cardiovascular risk profile of high school students: A cross-sectional study". Revista Portuguesa de Cardiologia 33 9 (2014): 525-534. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908170711&partnerID=MN8TOARS.
    10.1016/j.repc.2014.01.024
  51. Cymbron, T.; Mendes, P.; Ramos, A.; Raposo, M.; Kazachkova, N.; Medeiros, A.M.; Bruges-Armas, J.; Bourbon, M.; Lima, M.. "Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)". Meta Gene 2 (2014): 638-645. http://www.scopus.com/inward/record.url?eid=2-s2.0-84916199209&partnerID=MN8TOARS.
    10.1016/j.mgene.2014.08.004
  52. Carvalhana, S.; Leitão, J.; Alves, A.C.; Bourbon, M.; Cortez-Pinto, H.. "How good is controlled attenuation parameter and fatty liver index for assessing liver steatosis in general population: Correlation with ultrasound". Liver International 34 6 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84902550192&partnerID=MN8TOARS.
    10.1111/liv.12305
  53. Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda; Portuguese Familial Hypercholes. "Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia". Journal of Lipid Research 55 5 (2014): 947-955.
    10.1194/jlr.P043182
  54. Alves, Ana Catarina; Etxebarria, Aitor; Soutar, Anne Katherine; Martin, Cesar; Bourbon, Mafalda. "Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia". (2013): http://hdl.handle.net/10400.18/1805.
    doi: 10.1093/hmg/ddt573
  55. Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda. "Dislipidemia e risco cardiovascular em crianças: identificação de biomarcadores para uma melhor diferenciação entre uma dislipidemia monogénica e uma dislipidemia poligénica/externa". (2013): http://hdl.handle.net/10400.18/2121.
  56. Coutinho, M.F.; Bourbon, M.; Prata, M.J.; Alves, S.. "Sortilin and the risk of cardiovascular disease,Sortilina e risco de doença cardiovascular". Revista Portuguesa de Cardiologia 32 10 (2013): 793-799. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888307920&partnerID=MN8TOARS.
    10.1016/j.repc.2013.02.006
  57. Espinheira, M.C.; Vasconcelos, C.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.; Guerra, A.. "Hypercholesterolemia: A disease with expression from childhood,Hipercolesterolemia - Uma patologia com expressão desde a idade pediátrica". Revista Portuguesa de Cardiologia 32 5 (2013): 379-386. http://www.scopus.com/inward/record.url?eid=2-s2.0-84880165245&partnerID=MN8TOARS.
    10.1016/j.repc.2012.09.008
  58. Silva, S.; Alves, A.C.; Patel, D.; Malhó, R.; Soutar, A.K.; Bourbon, M.. "In vitro functional characterization of missense mutations in the LDLR gene". Atherosclerosis 225 1 (2012): 128-134. http://www.scopus.com/inward/record.url?eid=2-s2.0-84867851336&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2012.08.017
  59. Alves, A.C.; Medeiros, A.M.; Francisco, V.; Gaspar, I.M.; Rato, Q.; Bourbon, M.. "Molecular diagnosis of familial hypercholesterolemia: An important tool for cardiovascular risk stratification [59]". Revista Portuguesa de Cardiologia 29 6 (2010): 907-921. http://www.scopus.com/inward/record.url?eid=2-s2.0-77957736659&partnerID=MN8TOARS.
  60. Medeiros, A.M.; Alves, A.C.; Francisco, V.; Bourbon, M.. "Update of the Portuguese Familial Hypercholesterolaemia Study". Atherosclerosis 212 2 (2010): 553-558. http://www.scopus.com/inward/record.url?eid=2-s2.0-77957720440&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2010.07.012
  61. Bourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.. "Genetic diagnosis of familial hypercholesterolaemia: The importance of functional analysis of potential splice-site mutations". Journal of Medical Genetics 46 5 (2009): 352-357. http://www.scopus.com/inward/record.url?eid=2-s2.0-66249138829&partnerID=MN8TOARS.
    10.1136/jmg.2007.057000
  62. Bourbon, M.. "Genetic factors and cardiovascular disease [110],Factores genéticos e a doença cardiovascular [110]". Revista Portuguesa de Cardiologia 27 12 (2008): 1559-1563. http://www.scopus.com/inward/record.url?eid=2-s2.0-60549091558&partnerID=MN8TOARS.
  63. Martins, E.; Silva-Cardoso, J.; Bicho, M.; Bourbon, M.; Ceia, F.; Rebocho, M.J.; Moura, B.; et al. "Portuguese study of FAmilial dilaTed cardIoMyopAthy: The FATIMA study,Estudo Português de miocardiopatias dilatadas familiares. Estudo FATIMA". Revista Portuguesa de Cardiologia 27 9 (2008): 1029-1042. http://www.scopus.com/inward/record.url?eid=2-s2.0-57349100843&partnerID=MN8TOARS.
  64. Di Leo, E.; Magnolo, L.; Bertolotti, M.; Bourbon, M.; Carmo Pereira, S.; Pirisi, M.; Calandra, S.; Tarugi, P.. "Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations". Clinical Genetics 74 3 (2008): 267-273. http://www.scopus.com/inward/record.url?eid=2-s2.0-49549118725&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2008.01023.x
  65. Bourbon, M.; Alves, A.C.; Medeiros, A.M.; Silva, S.; Soutar, A.K.. "Familial hypercholesterolaemia in Portugal". Atherosclerosis 196 2 (2008): 633-642. http://www.scopus.com/inward/record.url?eid=2-s2.0-38349133635&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2007.07.019
  66. Bourbon, M.; Sun, X.-M.; Soutar, A.K.. "A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing". Atherosclerosis 195 1 (2007): http://www.scopus.com/inward/record.url?eid=2-s2.0-35248840932&partnerID=MN8TOARS.
    10.1016/j.atherosclerosis.2007.01.034
  67. Bourbon, M.; Rato, Q.. "Portuguese familial hypercholesterolemia study: Presentation of the study and preliminary results,Estudo Português de hipercolesterolemia familiar: Apresentação do estudo e resultados preliminares". Revista Portuguesa de Cardiologia 25 11 (2006): 999-1013. http://www.scopus.com/inward/record.url?eid=2-s2.0-33846304589&partnerID=MN8TOARS.
  68. O'Neill, F.H.; Patel, D.D.; Knight, B.L.; Neuwirth, C.K.Y.; Bourbon, M.; Soutar, A.K.; Taylor, G.W.; Thompson, G.R.; Naoumova, R.P.. "Determinants of variable response to statin treatment in patients with refractory familial hypercholesterolemia". Arteriosclerosis, Thrombosis, and Vascular Biology 21 5 (2001): 832-837. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035034225&partnerID=MN8TOARS.
  69. Bourbon, M.; Fowler, A.M.; Sun, X.-M.; Soutar, A.K.. "Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia". Clinical Genetics 56 3 (1999): 225-231. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032747151&partnerID=MN8TOARS.
    10.1034/j.1399-0004.1999.560308.x
  70. Norman, D.; Sun, X.-M.; Bourbon, M.; Knight, B.L.; Naoumova, R.P.; Soutar, A.K.. "Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia". Journal of Clinical Investigation 104 5 (1999): 619-628. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032728972&partnerID=MN8TOARS.
Artigo em revista (magazine)
  1. Alves, Ana Catarina; Sequeira, Sílvia; Cardoso, Maria Luís; Moldovan, Oana; Espírito Santo, Raquel; Oliveira, Renata; Guerra, António; Bourbon, Mafalda. "Colesterol Total, nem oito(enta) nem (duzentos e) oitenta: Parte 2 – Hipolipidemias primárias – alterações do metabolismo das lipoproteínas", 2019, http://hdl.handle.net/10400.18/6396.
  2. Cardoso, Maria Luís; Alves, Ana Catarina; Bourbon, Mafalda. "Colesterol total, nem oito(enta) nem (duzentos e) oitenta: Parte 1 – Defeitos da biossíntese do colesterol", Boletim Epidemiologico Observações, 2018, http://hdl.handle.net/10400.18/5548.
  3. Raimundo, Ana; Mariano, Cibelle; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda. "sdLDL como potencial biomarcador no diagnóstico e prevenção de doença cardiovascular em diabéticos", Boletim Epidemiologico Observações, 2017, http://hdl.handle.net/10400.18/4714.
  4. Ramos, Teresa; Mariano, Cibelle; Bourbon, Mafalda. "Avaliação da função tiroideia na população adulta portuguesa", Boletim Epidemiologico Observações, 2017, http://hdl.handle.net/10400.18/4874.
  5. Chora, Joana Rita; Bourbon, Mafalda. "Farmacogenética de fármacos antidislipidémicos", Boletim Epidemiologico Observações, 2017, http://hdl.handle.net/10400.18/4762.
  6. Bourbon, Mafalda. "Hipercolesterolemia Familiar: uma oportunidade para a medicina preventiva", Revista Fatores de Risco, 2017, http://hdl.handle.net/10400.18/4817.
  7. Alves, Ana Catarina; Sequeira, Sílvia; Moldovan, Oana; Lobarinhas, Goreti; Mansilha, Helena; Duarte, Sequeira; Gaspar, Ana; Guerra, António; Bourbon, Mafalda. "Estudo de dislipidemias familiares monogénicas raras", Boletim Epidemiologico Observações, 2016, http://hdl.handle.net/10400.18/3796.
  8. Alves, Ana Catarina; Bourbon, Mafalda; Rato, Quitéria. "Diabetes na população portuguesa: uma análise do estudo e_COR", Boletim Epidemiologico Observações, 2016, http://hdl.handle.net/10400.18/3693.
  9. Mariano, Cibelle; Antunes, Marília; Rato, Quitéria; Bourbon, Mafalda. "e_LIPID: caraterização do perfil lipídico da população portuguesa", Boletim Epidemiologico Observações, 2015, http://hdl.handle.net/10400.18/3223.
  10. Goes, Ana Rita; Câmara, Gisele; Loureiro, Isabel; Bragança, Graciete; Nunes, Luís Saboga; Bourbon, Mafalda; Saboga Nunes, Luís; et al. "«Papa Bem»: investir na literacia em saúde para a prevenção da obesidade infantil", Revista Portuguesa de Saude Publica, 2015, http://hdl.handle.net/10362/20408.
    10.1016/j.rpsp.2015.01.002
  11. Alves, Ana Catarina; Medeiros, Ana Margarida; Mafalda, Bourbon; Estudo Português de Hipercolesterolemia Familiar. "Estudo português de hipercolesterolemia familiar: 15 anos", 2014, http://hdl.handle.net/10400.18/1957.
  12. Gaspar, Gisela; Seuanes, Filomena; Duarte, João S.; Rodrigues, Dircea; Moreno, Carolina; Gouveia, Sofia; Lobarinhas, Goreti; et al. "Diagnóstico genético da diabetes tipo MODY na população portuguesa", Boletim Epidemiologico Observações, 2013, http://hdl.handle.net/10400.18/2134.
  13. Bourbon, Mafalda. "Diagnóstico Clínico e Molecular de Doentes com Hipercolesterolemia familiar", Boletim do Centro de Informação do Medicamento (CIM)- Ordem dos Farmacêuticos, 2012, http://hdl.handle.net/10400.18/1671.
Capítulo de livro
  1. Bourbon, Mafalda. "Familial Hypercholesterolaemia". In Clinical DNA Variant Interpretation (ISBN: 9780128205198).. London, Reino Unido: Elsevier, 2021.
    No prelo
Livro
  1. Martins, Elisabete; Lebreiro, Ana; António, Natália; Grupo de Estudo de Biologia Celular e Genética Cardiovascular da Sociedade Portuguesa de Cardiologia 2013 -2015; Bourbon, Mafalda; Moldovan, Oana. Testes Genéticos em Cardiologia: guia de recomendações. Sociedade Portuguesa de Cardiologia. 2015.
Tese / Dissertação
  1. Bourbon, Mafalda. "Characterization of molecular defects in Portuguese patients with Familial Hypercholesterolemia". Doutoramento, Imperial College Faculty of Medicine - Hammersmith Campus, 2006.
  2. Bourbon, Mafalda. "Identification and characterisation of mutations in the LDL receptor gene of patients with familial hypercholesterolemia". Mestrado, Imperial College Faculty of Medicine - Hammersmith Campus, 1997.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2019/01/24 Genetics of the monogenic forms of dyslipidaemia 70.ª Reunião Anual da Sociedade Portuguesa de Endocrinologia Diabetes e Metabolismo (SPEDM) e do Congresso Português de Endocrinologia
(Braga, Portugal)
2018/11/20 Translational medicine in familial Hypercholesterolaemia – from Phenotype to Genotype to Treatment ICPerMed Conference 2018 'Personalised Medicine in Action', 3rd Best Practice Example of Personalised Medicine Research & Implementation - From Basic Research to the Patient: Translational medicine in familial Hypercholesterolaemia – from Phenotype to Genotype to Treatment
ICPERMED (Berlin, Alemanha)
2018/10/26 Familial Dyslipidaemia – hypercholesterolaemias Congresso Português de Aterosclerose
(Porto, Portugal)
2018/06/09 A Hidden Cohort: What Could Be Hiding Behind a Diagnosis of Familial Hypercholesterolemia? International Society Atherosclerosis, congress symposium
(Toronto, Canadá)
2018/05/09 How many “FH” children have polygenic hyperlipidaemia? The Portuguese FH Study register 2nd EAS Pediatric Familial Hypercholesterolemia Symposium
(Lisboa, Portugal)
2018/05/08 Updates and initiatives from Nacional Lead Investigators and Patients Organizations EAS FHSC Steering Committee Meeting
European Atherosclerosis Society (Lisboa, Portugal)
2018/05/06 How to avoid the differential diagnostic odyssey European Atherosclerosis Society, congress Symposium
(Lisboa, Portugal)
2018/05/04 Genetics of Familial Hypercholesterolaemia 5th Meeting of the Iberoamerican FH network
(Lisbon, Portugal)
2017/11/16 Portugal.Translational medicine in Familial Hypercolesterolaemia: From phenotype to genotype to treatment 21ª Reunião da Sociedade Portuguesa de Genética Humana
(Caparica, Portugal)
2017/05/30 Differential diagnosis of familial dyslipidaemias LALD Balance
(Rio de Janeiro, Brasil)
2017/01 Heterogenicity of the LAL-D phenotypes - is there a common denominator? LALD Bureau
( Lisbon, Portugal)
2016/05/20 When to suspect of a dyslipidaemia Peadiatric Meetings
(Guimarães, Portugal)
2015/11/07 Lysosomal Acid Lipase Deficiency, an unrecognized cause of dyslipidaemia XXIII National Atherosclerosis Congress
(Cascais, Portugal)
2015/11/06 Genetic causes of severe dyslipidaemia Meeting of the Cellular Biology and Cardiovascular Genetics Working Group (GEBCGC) and Congenital heart Disease Working Group (GECC) from the Portuguese Society of Cardiology
(Óbidos, Portugal)
2015/10/30 Familial Hypercholesterolemia in Portugal VI meeting of the Group of Rare Diseases, Portuguese Internal Medicine Society
(Lisboa, Portugal)
2015/10/23 Lisosomal Acid Lipase Deficiency: an unrecognized cause of dyslipidaemia and liver disorders XVI Paediatric Congress
( Algarve, Portugal)
2015/01/28 Genetic basis of Familial Hypercholesterolemia Study Clinical Session at Hospital Santa Maria, Cardiology Department
(Lisbon, Portugal)
2014/12/10 Familial Hypercholesterolemia in Portugal Clinical Session at Hospital Curry Cabral, Endocrinology Department
(Lisboa, Portugal)
2014/10/16 Portuguese Familial Hypercholesterolemia Study XV Paediatric Congress
(Algarve, Portugal)
2014/05/30 FH Genetics in Iberoamerica 2nd Meeting of the Iberoamerican FH network
( Madrid, Espanha)
2014/02/07 New data on cardiovascular risk factors in Portugal Portuguese Stroke Congress 2014
(Porto, Portugal)
2013/08/24 Genetics of dominant hypercholesterolaemias 1st Meeting of the Iberoamerican FH network
(Montevideo, Uruguai)
2012/03/09 Familial Hypercholesterolaemia in Portugal 2nd Molecular Biology Meeting, Health Technology School
Costa da Caparica, Portugal, 9th March 2012. (Costa da Caparica, Portugal)
2011/11/10 Genetic bases of Familial Hypercholesterolaemia XV Portuguese Human Genetics Society Congress
(Lisboa, Portugal)
2011/10/31 Clinical and molecular (mis)diagnosis of Familial Hypercholesterolaemia Mini-symposium - The Genes and Metabolism Section of the Clinical Sciences Centre MRC
(London, Reino Unido)
2011/10/23 Familial Hypercholesterolaemia in Portugal XVII Portuguese Atherosclerosis Congress
(Évora, Portugal)
2011/10/13 Portuguese Familial Hypercholesterolemia Study
Ponta Delgada, Açores, Portugal, 13 - 15 Outubro 2011. (Ponta Delgada, Açores, Portugal)
2011/01/27 Genetics of familial hypercholesterolemia and hypertriglyceridemia XII Portuguese Endocrinology Congress
(Tróia, Portugal)
2010/04 Molecular diagnosis of Familial Hypercholesterolaemia - an important tool for cardiovascular risk stratification XXXI Portuguese Cardiology Congress - Hotline session
( Lisbon, Portugal)
2009/04/19 Prevalence of risk factors in a young population” XXX Portuguese Cardiology Congress
(Algarve, Portugal)
2009/03/19 Clinical and molecular diagnosis of Familial Hypercolesterolaemia Clinical Session of the Cardiology Department, Hospital de S João
(Porto, Portugal)
2008/11/21 Inherited disorders of metabolism and cardiovascular pathology Annual Meeting of the Portuguese Society of Metabolic Disorders
(Porto, Portugal)
2008/06/25 Clinical and molecular diagnosis of Portuguese patients with Familial Hypercolesterolaemia Clinical Session of the Cardiology Department, Hospital de Santa Cruz
(Carnaxide, Portugal)
2008/04/20 Molecular study of familial dyslipidaemia XXIX Portuguese Cardiology Congress, Algarve
(Algarve, Portugal)
2008/04/20 Contribution of genetics: what can we learn from the studies of specific mutations in PCSK9 gene XXIX Portuguese Cardiology Congress
( Algarve, Portugal)
2008/01/09 Clinical and molecular diagnosis of Familial Hypercolesterolaemia Clinical Session of the Cardiology Department, Hospital de Santiago
(Setúbal, Portugal)
2007/10/01 Familial Hypercholesterolaemia in Portugal 8 th National Congress of Paediatrics
( Algarve, Portugal)
2007/04/22 Genetic dyslipidaemia in clinical practise XXVIII Portuguese Cardiology Congress
(Algarve, Portugal)
2006/09/28 Genetics and atherosclerosis 5th Course on Cardio prevention, cardio protection
(Setúbal, Portugal)
2006/04 Molecular diagnosis of familial hypercolesterolaemia Meeting of the study group of cardiovascular risk of the Portuguese Cardiology Society
(Lisboa, Portugal)
2003/11 Molecular pathology of familial hypercolesterolaemia in Portugal Meeting INSA day, Cardiovascular diseases – a problem of public health
(Lisbon, Portugal)
2003/02/22 Genetics of Familial Hypercolesterolaemia in Portugal Meeting of the Portuguese Atherosclerosis Society
(Figueira da Foz, Portugal)
2002/06/05 FH in Portugal (Europa 1) Pre-congress (of the European Atherosclerosis Society) satellite symposium: Familial hypercholesterolemia (FH) - Early diagnosis for better prevention
(Eugendorf, Áustria)
2001/12/13 Early prevention of the monogenic hypercolesterolaemia – from the clinic to the molecular genetics Clinical sessions of the Faculty of Medicine, Lisbon, Hospital de Santa Maria
(Lisbon, Portugal)
1996/09/03 Different alleles of the LDL receptor gene with the Pro664Leu mutation in patients with Familial Hypercholesterolemia Annual Meeting of the British Society of Atherosclerosis, Hammersmith Hospital
(London, Reino Unido)

Orientação

Título / Tema
Papel desempenhado 		Curso (Tipo)
Instituição / Organização
2018 - 2024 Caracterização Clínica, Bioquímica e Genética em doentes angolanos com COVID-19
Orientador
 Bioquímica (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal

Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
2017 - 2024 Novel genetic strategies for the characterization of Familial Hypercholesterolaemia phenotype
Orientador
 Bioquímica (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal

Instituto Nacional de Saude Dr Ricardo Jorge, Lisboa, Portugal
2018 - 2021 Functional genomics in Familial Dyslipidaemia
Orientador
 Biologia (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - 2020 indentification of novel biomarkers and candidate genes associated to lipid traits. improving the lipid metabolism Knowledgebase
Coorientador
 Biologia (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016/01/01 - 2020 Pharmacogenetics of cardiovascular drugs
Orientador de Joana Chora
 Biologia (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2019 Tackling the molecular basis of lipid metabolism: from candidate genes testing in a disease cohort to multi-omics approaches in unselected populations
Orientador
 Biologia (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - 2018 Clinical and molecular characterization of portuguese patients with a clinical diagnosis of MODY
Orientador
 Biologia Molecular e Genética (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016 - 2017 Familial hypercholesterolaemia: molecular and functional study of LDLR mutations
Orientador
 Biologia Molecular e Genética (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2015 - 2016 Molecular diagnosis of familial hypercholesterolemia and functional characterization of missense variants in the LDLR gene
Orientador
 Bioquímica (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2008 - 2014 Bases genéticas da hipercolesterolemia familiar.
Orientador
 Bioquímica (Doutoramento)
Universidade de Lisboa Faculdade de Ciências, Portugal
2006 - 2007 Caracterização Molecular de Doentes Portugueses com Diagnóstico Clínico de Hipercolesterolemia Familiar.
Orientador de Ana Margarida Medeiros
 Química (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal

Membro de associação

Nome da associação Tipo de participação
2018 - Atual Portuguese Atherosclerosis Society general member and member of the scientific board
2009 - Atual European Atherosclerosis Society member
2006 - Atual Portuguese Cardiology Society member (2008-2010 board member of the cell biology and cardiovascular genetics study group

Membro de comissão

Descrição da atividade
Tipo de participação 		Instituição / Organização
2021 - Atual FH Europe Role ¿ provide scientific and health policy advice to and on behalf of FH Europe ¿ interface with key medical/health policy organizations as part of FH Europe¿s advocacy work ¿ verify FH Europe¿s interpretation of science is correct and serves the wider European and international citizen population ¿ help obtain funding to support related advocacy activities.
Consultor
 FH Europe, Reino Unido
2019 - Atual The 1+ Million Genomes Member State Initiative (https://ec.europa.eu/digital-single-market/en/european-1-million-genomes-initiative) aims to improve disease prevention, allow for more personalised treatments and provide a sufficient scale for new clinically impactful research. It has different working groups and mirror groups in each country. I am a member and vice chair of the following country mirror groups Work Group 4 “Good Genomic Practice” Work Group 10 “Common, Complex Disorders”
Membro
 European Commission, Bélgica
2019 - Atual Advice on scientific aspects of research in atherosclerosis Portuguese Atherosclerosis Society , Portugal
2018/01/01 - Atual ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. One specific goal of ClinGen is to develop teams of experts in different clinical domains to evaluate the clinical validity of gene-disease relationships and pathogenicity of individual genetic variants, including cardiovascular domain, where Familial Hypercholesterolaemia (FH) is included. I am the co-chair of the FH group
Coordenador
 Clinical Genome Resource, Estados Unidos
2017 - Atual The International Paediatric FH Register was established in 2017 to collect baseline and long term follow-up data on all children with HeFH in different countries with the aim to compare characteristics at diagnosis and the prevalence, age of initiation and lipid lowering effect of statin treatment across Europe. It has also an education role and has developed several tools as leaflets for different age paediatric patients and a statin treatment tool.
Membro
 International Familial Hypercholesterolaemia Paediatric Register., Reino Unido
2015/06 - Atual The EAS FH Studies Collaboration (FHSC) was established to empower the medical and world-wide FH community to achieve global policy change in how FH is detected and managed. FHSC has established the first global FH Registry, an international secure warehouse of FH Data, collected and merged from all the countries (currently ca. 70) included in the network. This registry is the first example of Big Data on FH currently available. I am the National Lead Investigator for Portugal.
Membro
 The EAS Familial Hypercholesterolemia Studies Collaboration (FHSC), Reino Unido
2013 - Atual The Iberoamerican FH (IBAFH) network was constituted in 2013 with the main objectives to promote awareness and education on FH, and to improve and promote early diagnosis and treatment of the disorder in the network countries. Currently, there are 8 countries (Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain and Uruguay) belonging to the network representing 75% of region’s population. I am a board member and coordinator of the genetics field.
Coordenador
 Iberoamerican Familial hypercholesterolaemia network, Espanha
Distinções

Prémio

2019 Honorable mention in Clinical Medicine Bial Award (Premio Bial de Medicina Clinica)
Fundação Bial, Portugal
2009 Pfizer AWARD IN CLINICAL RESEARCH
Sociedade de Ciencias Medicas, Portugal
2006 1st PRIZE AWARD Amélia da Silva Mello for HEALTH SCIENCES
José de Mello Saúde, Portugal

Outra distinção

2016 BEST POSTER PRESENTATION AWARD Sociedade Portuguesa de Pediatria
Sociedade Portuguesa de Pediatria, Portugal
2016 BEST POSTER PRESENTATION AWARD in 2nd congress of Medical Paediatrics
2014 BEST CLINICAL CASE in the Portuguese Diabetes Congress
Sociedade Portuguesa de Diabetologia, Portugal
2014 BEST POSTER PRESENTATION AWARD in the 82nd Congress of the European Atherosclerosis Society,
European Atherosclerosis Society, Suécia
2012 1ST PRIZE for the BEST ORAL COMMUNICATION IN BASIC SCIENCE
Sociedade Portuguesa de Cardiologia, Portugal
2010 1ST PRIZE for the BEST POSTER
2007 1ST PRIZE for the BEST ORAL COMMUNICATION
2005 1ST PRIZE for the BEST ORAL COMMUNICATION
2004 1ST PRIZE for the BEST ORAL COMMUNICATION