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Joana Rita Chora. Completed PhD in Biology (2023) by Universidade de Lisboa Faculdade de Ciências. Is currently Scientific project manager and post-doctoral researcher on the project “PerMedFH – Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients” in Instituto de Biossistemas e Ciências Integrativas (BioISI) and Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA). Is scientific lead and reviewer for the Clinical Genome Resource Familial Hypercholesterolemia Variant Curation Expert Panel since 2016. Is co-supervising 1 MSc dissertation. Was part of the 2022 European Atherosclerosis Society Young Fellows programme. Published 17 articles in international peer-reviewed journals (h-index of 8). Has 2 chapter(s) of books. Has received 4 awards and/or honors. Participates and/or participated as Master Student Fellow in 1 project(s), PhD Student Fellow in 3 project(s), Post-doc in 1 project(s) and Research Fellow in 5 project(s). Works in the area(s) of Human Genetics, Molecular Biology, Genetics and Heredity, and Statistics and Probability. In her curriculum Ciência Vitae the most frequent terms in the context of scientific, technological and artistic-cultural output are: ClinVar; Clinical Genome Resource; Familial Hypercholesterolemia; Variant Interpretation; Cardiovascular Risk; Diagnosis; Cardiovascular Disease; Guidelines; dyslipidemia; hereditary hearing loss; Polygenic hypercholesterolemia; Monogenic hypercholesterolemia; LDLR variants; PCSK9 variants; APOB variants; ACMG classification; Lysosomal Acid Lipase Deficiency; LIPA; Phenocopy; GJB2; neurosensorial hearing loss; Cochlear Implant; Nonsyndromic hearing loss; DFNB1 locus; Oral outcome; Deafness; pharmacogenomics; Statins; prevalence; Phenotype-genotype association studies.
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Identification

Personal identification

Full name
Joana Rita Chora

Citation names

  • Chora, Joana Rita
  • Chora, Joana
  • Chora, Joana Rita Gaspar de Barros Martinho

Author identifiers

Ciência ID
FF1E-B898-3698
ORCID iD
0000-0003-4942-1730
Researcher Id
N-9920-2016
Scopus Author Id
37037078700

Email addresses

  • joana.chora@insa.min-saude.pt (Professional)

Addresses

  • Instituto Nacional de Saúde Dr. Ricardo Jorge, Avenida Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Molecular Biology
  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Exact Sciences - Mathematics - Statistics and Probability

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
English Advanced (C1) Proficiency (C2) Advanced (C1) Proficiency (C2)
French Elementary (A2) Intermediate (B1) Beginner (A1) Intermediate (B1)
Spanish; Castilian Elementary (A2) Intermediate (B1) Elementary (A2) Intermediate (B1)
Education
Degree Classification
2022/05 - 2024/05
Concluded
 EAS Young Fellows programme (Postgraduate Certificate)
European Atherosclerosis Society, Sweden
2016/01/01 - 2023/06/07
Concluded
 Biologia (Biology) (Doutoramento)
Major in Genética (Genetics)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Personalized Medicine in Familial Hypercholesterolemia – diagnosis, stratification of cardiovascular disease risk and lipid therapy management" (THESIS/DISSERTATION)
 Approved with Distinction and Honors
2019/06/06 - 2019/06/07
Concluded
 Clinical research: what's it all about? - a focused training for the busy investigators and study team (Outros)
Associação para a Investigação e Desenvolvimento da Faculdade de Medicina, Portugal
 NA
2016/08/20 - 2016/08/25
Concluded
 3rd ESPT Summer school - State of the Art, Novel Concepts, and Clinical Applications of Pharmacogenomics and Personalised Therapy (Postgraduate Certificate)
European Society of Pharmacogenomics and Personalised Therapy, Italy
 23,5/30
2011/09 - 2012/07/30
Concluded
 Curso de Especialização em Estatística aplicada à Biologia e Ciências da Saúde (Specialization course in Statistics applied to Biology and Health Sciences) (Curso de mestrado (conclusão do curso de especialização))
Universidade de Lisboa Faculdade de Ciências, Portugal
 17/20
2007/09 - 2008/12/02
Concluded
 Mestrado em Biologia Molecular e Genética (Masters in Molecular Biology and Genetics) (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Contribuição para o estabelecimento de uma relação genótipo GJB2/GJB6 vs sucesso do implante coclear em indivíduos surdos da população portuguesa. " (THESIS/DISSERTATION)
 17/20 - Muito Bom (17/20 - Very Good)
2003/09 - 2007/07/11
Concluded
 Licenciatura em Biologia Microbiana e Genética (Graduation in Microbial and Genetic Biology) (Licenciatura)
Universidade de Lisboa Faculdade de Ciências, Portugal
 14/20
Affiliation

Others

Category
Host institution 		Employer
2024/04/01 - Current Scientific project manager and post-doctoral researcher on the project “PerMedFH – Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients” Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
(...)
2023/01 - 2023/12 Research assistant on the project “Análise de Dados do Projeto e_LIPID” Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016/01/01 - 2023/06/07 PhD student Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2021/10 - 2022/06 Research assistant on the project "Familial Hypercholesterolemia Study Collaboration (FHSC) Genetics" Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2015/05 - 2015/12/31 Research assistant on the LAL_D.pt project Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2015/02/09 - 2015/12/31 Research assistant on the FH Genetic diagnosis project Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2013/07/01 - 2014/12/31 Research assistant on the "Age-related hearing loss: Genetic risk factors and social impact" project Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2010/03/15 - 2013/06/30 Research assistant on the "DFNB1 genotype in cochlear implant recipients of Portuguese population" project Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
2012/06/28 - 2012/12/16 Database organizer on the "Corporativismo" project. Database treatment, analysis, normalization and organization of data regarding Corporate Institutions from Estado Novo (1933-1974). Universidade de Lisboa Instituto de Ciências Sociais, Portugal
2009/03/15 - 2010/03/14 Professional Internship INOV-Jovem on the "Genotype-phenotype correlations of cochlear implanted individuals: DFNB1 mutation analysis and oral outcome" project Instituto do Emprego e Formação Profissional, Portugal
Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Projects

Grant

Designation Funders
2024/04/01 - 2026/12 PerMedFH – Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients
HR23-0749
Post-doc
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Caixa d'Estalvis i Pensions de Barcelona
Ongoing
2021/10/01 - 2022/06 Familial Hypercholesterolemia Study Collaboration (FHSC) Genetics
FHSC Genetics
Research Fellow
Imperial College London
Concluded
2016/01/01 - 2019 Pharmacogenetics of cardiovascular drugs - a step towards personalized medicine
SFRH/BD/108503/2015
PhD Student Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2015/05 - 2015/12/31 LAL_D.pt: Molecular study of LIPA gene in patients with unexplained severe dyslipidaemia
LAL_D.pt
Research Fellow
Alexion Pharmaceuticals Inc Lexington
Concluded
2015/02 - 2015/12/31 FH Genetic diagnosis: Development and validation of support documentation for the molecular diagnosis of Familial Hypercholesterolaemia
2015DPS1165/BIC/01
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
 Gendiag
Concluded
2013 - 2015 Age-related hearing loss: Genetic risk factors and social impact
PTDC/NEU-BEN/1192/2012
Research Fellow
Universidade de Lisboa Faculdade de Ciências, Portugal

Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Associação para a Inovação e Desenvolvimento da FCT
Concluded

Contract

Designation Funders
2020/01/01 - 2023/06/07 Instituto de Biosistemas & Ciências Integrativas
UIDB/04046/2020
UIDP/04046/2020
PhD Student Fellow
Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal

Universidade de Lisboa Faculdade de Ciências, Portugal

FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal

Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Minho, Portugal

Universidade do Porto Faculdade de Ciências, Portugal
Fundação para a Ciência e a Tecnologia
2019/01/01 - 2019/12/31 Instituto de Biosistemas & Ciências Integrativas
UID/Multi/04046/2019
PhD Student Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Universidade do Minho, Portugal

Universidade do Porto Faculdade de Ciências, Portugal

Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal

FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal

Universidade de Lisboa Faculdade de Ciências, Portugal

Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2023/01 - 2023/12 Análise de Dados do Projeto e_LIPID
Análise de Dados do Projeto e_LIPID
Research Fellow
Fundação da Faculdade de Ciências da Universidade de Lisboa
Concluded
2008 - 2009 DFNB1 genotype in cochlear implant recipients of Portuguese population
NA
Master Student Fellow
Cochlear Limited
Concluded
Outputs

Publications

Book chapter
  1. Chora, Joana; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda. "Familial hypercholesterolemia". In Clinical DNA Variant Interpretation: Theory and Practice, edited by Conxi Lázaro; Jordan Lerner-Ellis; Amanda Spurdle; George Patrinos, 323-348. Academic Press, 2021.
    Published
  2. Chora, Joana; Matos, Tiago Daniel; Arguello, Patricia; Fialho, Graça; Caria, Helena. "Surdez associada à idade: resultados preliminares (Age-related hearing loss: preliminary results)". In Entre a teoria, os dados e o conhecimento (III) Investigar Práticas em Contexto (Between theory, data and knowledge (III) Investigating Practices in Context), edited by Pereira, A.; Vasconcelos, A. A.; Delgado, C.; Silva, C. G.; Botelho F.; Pinto, J., 171-180. Setúbal, Portugal: Escola Superior de Educação do Instituto Politécnico de Setúbal, 2015.
    Published
Conference abstract
  1. Stevens, Christophe A. T.; Elshorbagy, Amani; Vallejo-Vaz, Antonio J.; Dharmayat, Kanika I.; Lyons, Alexander R. M.; Bourbon, Mafalda; Chora, Joana Rita; et al. "To correct or not to correct (for treatment): Estimating pre-treatment LDL-C concentrations in genetically characterized patients with familial hypercholesterolaemia on lipid-lowering medication.". Paper presented in 92nd European Atherosclerosis Society Congress, Lyon, 2024.
    Accepted
  2. Stevens, C.; Sharabiani, M.; Chora, Joana Rita; Mahani, A.; Vallejo-Vaz, A.; Ray, K.. "Machine Learning identification of carriers of pathogenic and likely pathogenic variants linked to familial hypercholesterolaemia in the UK Biobank.". Paper presented in 91st European Atherosclerosis Society Congress, Mannheim, 2023.
    Published • 10.1016/j.atherosclerosis.2023.06.764
  3. Latkovskis, G.; Rescenko, R.; Nesterovics, G.; Briviba, M.; Saripo, V.; Gilis, D.; Meiere, R.; et al. "Genetic spectrum in Latvian patients with familial hypercholesterolemia: First data from a whole genome sequencing study.". Paper presented in 91st European Atherosclerosis Society Congress, Mannheim, 2023.
    Published • 10.1016/j.atherosclerosis.2023.06.711
  4. Chora, Joana Rita; Iacocca, Michael A.; Elnagheeb, Marwa; Kullo, I.J.; Bourbon, Mafalda. "Resolving conflicting LDLR variants in ClinVar - Progress of the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel.". Paper presented in 91st European Atherosclerosis Society Congress, Mannheim, 2023.
    Published • 10.1016/j.atherosclerosis.2023.06.716
  5. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Genetic background of individuals with clinical diagnosis of FH from the Portuguese FH Study cohort.". Paper presented in 91st European Atherosclerosis Society Congress, Mannheim, 2023.
    Published • 10.1016/j.atherosclerosis.2023.06.715
  6. Chora, Joana Rita; Bourbon, Mafalda. "LDLR variant classification with ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel specifications.". Paper presented in 90th European Atherosclerosis Society Congress, Milan, 2022.
    Published • 10.1016/j.atherosclerosis.2022.06.226
  7. Chora, Joana Rita; Tichy, L.; Iacocca, Michael A.; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda. "ClinVar LDLR variants classification vs FH VCEP LDLR specifications.". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana), 2022.
    Published
  8. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda. "Familial Hypercholesterolemia - Monogenic, polygenic or both?". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana), 2022.
    Published
  9. Chora, Joana Rita; Bourbon, Mafalda. "Personalised medicine for Familial Hypercholesterolemia - pilot study". Paper presented in 89th European Atherosclerosis Society Congress, Virtual congress, 2021.
    Published • 10.1016/j.atherosclerosis.2021.06.505
  10. Chora, Joana Rita. "Recommendations for LDLR variant interpretation by the ClinGen's Familial Hypercholesterolemia Expert Panel". Paper presented in 24th Annual Meeting of the Portuguese Society of Human Genetics, 2021.
    Published • 10.1097/md.0000000000023585
  11. Chora, Joana; Iacocca, M.A.; Carrié, A.; Leigh, S.E.; Tichý, L.; Kurtz, C.L.; Freiberger, T.; et al. "Specification Of ACMG/AMP Guidelines For Variant Interpretation In Familial Hypercholesterolemia". Paper presented in 87th European Atherosclerosis Society Congress, Maastricht, 2019.
    Published • 10.1016/j.atherosclerosis.2019.06.195
  12. Chora, Joana; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda. "ACMG classification of variants in LDLR gene found in patients with a clinical diagnosis of Familial Hypercholesterolaemia". Paper presented in European Human Genetics Conference, Copenhagen, 2019.
    Published • 10.1038/s41431-018-0247-7
  13. Michael A. Iacocca; Chora, Joana; Tomas Freiberger; Alain Carrie; Sarah E. Leigh; C.L. Kurtz; Lukas Tichy; et al. "Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia.". Paper presented in International Symposium on Atherosclerosis, Toronto, 2018.
    Published • 10.1016/J.ATHEROSCLEROSISSUP.2018.04.153
  14. Chora, Joana Rita; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda. "Systematic review of LDLR mutations associated to Familial hypercholesterolaemia – evidence of functional studies and application of ACMG guidelines for FH diagnosis". Paper presented in 85th European Atherosclerosis Society Congress, Prague, 2017.
    Published • 10.1016/j.atherosclerosis.2017.06.720
  15. Chora, Joana Rita; Alves, Ana Catarina; Medeiros, Ana Margarida; Mariano, Cibelle; Loubarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, Mafalda. "Will familial hypercholesterolaemia cohorts hide many more lisosomal acid lipase deficiency patients?". Paper presented in 84th Congress of the European Atherosclerosis Society, Innsbruck, 2016.
    Published
  16. Azevedo, Sílvia; Chora, Joana Rita; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda. "Construction of a new familial hypercholesterolaemia variant database: a systematic review for a 2015 update". Paper presented in 84th Congress of the European Atherosclerosis Society, Innsbruck, 2016.
    Published
  17. Chora, Joana Rita; Mata, Pedro; Santos, Raul; Vázquez, A. Cárdenas; Stoll, M.; Schreier, L.; Cuevas, A.; et al. "Genetic analysis of Familial Hypercholesterolaemia in Iberoamerican countries". Paper presented in 84th Congress of the European Atherosclerosis Society, Innsbruck, 2016.
    Published • 10.1016/j.atherosclerosis.2016.07.343
  18. Chora, Joana; Gonçalves, Ana Cláudia; Matos, Tiago Daniel; Simões-Teixeira, Helena; Fialho, Graça; Caria, Helena. "How diverse is GJB2 in Portugal?". Paper presented in European Human Genetics Conference, Paris, 2013.
    Published
  19. Chora, Joana; Matos, Tiago Daniel; Andrade, S.; Martins, Jorge Humberto; Alves, M.; Silva, L.; Ribeiro, C.; Fialho, Graça; Caria, Helena. "GJB2 analysis in Portuguese cochlear implant users". Paper presented in European Human Genetics Conference, Barcelona, 2008.
    Published
Conference poster
  1. Nogueira, Mariana; Medeiros, Ana Margarida; Miranda, Beatriz; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda. "Unravelling the relationship between lipoprotein(a) levels and familial hypercholesterolemia phenotype.". Paper presented in XXXII Congresso Português de Aterosclerose, 2024.
  2. Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quitéria; Antunes, Marilia; Bourbon, Mafalda. "e_LIPID – Biochemical and genetic characterization of the Portuguese population.". Paper presented in 92nd European Atherosclerosis Society Congress, 2024.
  3. Chora, Joana Rita. "2023 Projects related to Familial Hypercholesterolemia Personalised Medicine". Paper presented in 2024 meeting for the EAS Young Fellows programme, 2024.
  4. Chora, Joana Rita; Iacocca, Michael A.; Elnagheeb, Marwa; Kullo, I.J.; Bourbon, Mafalda. "LDLR variant classification by the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel - first 10 rounds of curation". Paper presented in Curating the Clinical Genome conference, 2023.
  5. Ferreira, Maria; Chora, Joana Rita; Medeiros, Ana Margarida; Bourbon, Mafalda; Alves, Ana Catarina. "Functional Studies of APOB variants - the experience of the Portuguese Familial Hypercholesterolemia Study". Paper presented in 91st European Atherosclerosis Society Congress, 2023.
  6. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Clinical and genetic characteristics of patients with a clinical diagnosis of Familial Hypercholesterolemia in Portugal". Paper presented in Congresso Português de Cardiologia, 2023.
  7. Ferreira, Maria; Chora, Joana Rita; Medeiros, Ana Margarida. "APOB Variants - the experience of the Portuguese Familial Hypercholesterolemia Study". Paper presented in 4ª Reunião do Núcleo de Estudos de Prevenção e Risco Vascular, 2022.
  8. Chora, Joana Rita; Bourbon, Mafalda. "First year of LDLR variant classification from the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel.". Paper presented in 26th Annual meeting of the Sociedade Portuguesa de Genética Humana (Portuguese society of human genetics), 2022.
  9. Chora, Joana Rita; Tichy, Lukas; Iacocca, Michael A.; Freiberger, Tomas; Bourbon, Mafalda. "Case-level data sharing makes a difference in variant classification". Paper presented in Curating the Clinical Genome virtual conference, 2021.
  10. Chora, Joana; Bourbon, Mafalda. "Pharmacogenomics of dyslipidaemia drugs in Portugal". Paper presented in 88th European Atherosclerosis Society Congress, 2020.
    10.1016/j.atherosclerosis.2020.10.867
  11. Chora, Joana Rita; Alves, Ana Catarina; Rato, Quitéria; Bourbon, Mafalda. "Cardiovascular risk factors in the Portuguese population: an analysis of e_COR study". Paper presented in XXVII Congresso Português de Aterosclerose (Portuguese atherosclerosis congress), 2019.
  12. Iacocca, Michael; Chora, Joana; Freiberger, Tomas; Carrié, Alain; Kurtz, C. Lisa; Leigh, Sarah E.; Defesche, Joep C.; et al. "Specification of ACMG guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panel". Paper presented in FH Global Summit, 2019.
  13. Mariano, Cibelle; Alves, Ana Catarina; Medeiros, Ana Margarida; Chora, Joana; Futema, M.; Humphries, Steve E.; Bourbon, Mafalda. "Fh Phenotype: Monogenic, Polygenic Or Other Causes?". Paper presented in European Atherosclerosis Society Congress, 2019.
    10.1016/j.atherosclerosis.2019.06.652
  14. Pineda, A. L.; Wright, M. W.; Iacocca, Michael A.; Wand, Hannah; Zhen, J.; Wulf, B.; Patel, R. Y.; et al. "Structured Narrative Triplets of Functional Assays to Support the Determination of Damaging Effect on Protein Function". Paper presented in ACMG Annual Clinical Genetics Meeting, 2019.
  15. Chora, Joana; Iacocca, Michael A.; DiStefano, Marina T.; Carrie, Alain; Freiberger, Tomas; Leigh, Sarah E.; Kurtz, C. Lisa; et al. "Familial hypercholesterolemia-associated variants submitted to ClinVar: a ClinGen FH effort". Paper presented in Curating the Clinical Genome, 2018.
  16. Chora, Joana Rita; Iacocca, Michael A.; Carrié, Alain; Tichy, Lukas; Leigh, Sarah E.; DiStefano, Marina T.; Defesche, Joep; et al. "Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia - a ClinGen FH Expert Panel pilot study". Paper presented in 86th European Atherosclerosis Society Congress, 2018.
    10.1016/j.atherosclerosis.2018.06.268
  17. Kurtz, C. Lisa; Iacocca, Michael A.; Freiberger, Tomas; Carrie, Alain; Chora, Joana; Leigh, Sarah E.; Tichy, Lukas; et al. "Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia - a ClinGen FH Variant Curation Committee Pilot Study". Paper presented in ACMG Annual Clinical Genetics Meeting, 2018.
    10.1016/J.ATHEROSCLEROSIS.2018.06.268
  18. Chora, Joana Rita; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda. "LDLR, APOB and PCSK9 variant interpretation in Familial Hypercholesterolaemia – application of ACMG guidelines.". Paper presented in 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana (Portuguese society of human genetics), 2017.
  19. Iacocca, Michael A.; Chora, Joana; Rivera, E. Andy; DiStefano, Marina T.; Carrie, Alain; Sijbrands, Eric J.; Defesche, Joep; et al. "Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia". Paper presented in Curating the Clinical Genome, 2017.
  20. Chora, Joana; Rodrigues, A. R.; Trincão, C.; Simões-Teixeira, Helena; Matos, Tiago Daniel; Fialho, Graça; Caria, Helena. "Prevalence of GJB2 mutations in the Portuguese population". Paper presented in Inner Ear Biology Workshop, 2009.
  21. Chora, Joana; Matos, Tiago Daniel; Andrade, S.; Martins, Jorge Humberto; Alves, M.; Silva, L.; Ribeiro, C.; Fialho, Graça; Caria, Helena. "Correlation between the GJB2 genotype and the success of rehabilitation in cochlear implanted children". Paper presented in Molecular Biology of Hearing and Deafness, 2009.
Journal article
  1. Joana Rita Chora; Ana Catarina Alves; Cibelle Mariano; Quitéria Rato; Marília Antunes; Mafalda Bourbon. "Portuguese Lipid Study (e_LIPID)". Journal of Clinical Medicine (2024): https://doi.org/10.3390/jcm13226965.
    10.3390/jcm13226965
  2. Christophe A. T. Stevens; Antonio J. Vallejo-Vaz; Joana R. Chora; Fotis Barkas; Julia Brandts; Alireza Mahani; Leila Abar; Mansour T. A. Sharabiani; Kausik K. Ray. "Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?". Journal of the American Heart Association (2024): https://doi.org/10.1161/JAHA.123.034434.
    10.1161/JAHA.123.034434
  3. Barkas, Fotios; Sener, Yusuf Ziya; Golforoush, Pelin Arabacilar; Kheirkhah, Azin; Rodriguez-Sanchez, Elena; Novak, Jan; Apellaniz-Ruiz, Maria; et al. "Advancements in risk stratification and management strategies in primary cardiovascular prevention". Atherosclerosis 395 (2024): 117579. http://dx.doi.org/10.1016/j.atherosclerosis.2024.117579.
    Published • 10.1016/j.atherosclerosis.2024.117579
  4. Medeiros, Ana Margarida; Alves, Ana Catarina; Miranda, Beatriz; Chora, Joana Rita; Bourbon, Mafalda. "Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype". Journal of Lipid Research 65 2 (2024): 100490. http://dx.doi.org/10.1016/j.jlr.2023.100490.
    Open access • Published • 10.1016/j.jlr.2023.100490
  5. Albuquerque, João; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; et al. "Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults". Atherosclerosis 383 (2023): 117314. http://dx.doi.org/10.1016/j.atherosclerosis.2023.117314.
    Published • 10.1016/j.atherosclerosis.2023.117314
  6. Latkovskis, Gustavs; Rescenko-Krums, Raimonds; Nesterovics, Georgijs; Briviba, Monta; Saripo, Vita; Gilis, Dainus; Terauda, Elizabete; et al. "Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing". Journal of Clinical Medicine 12 15 (2023): 5160. http://dx.doi.org/10.3390/jcm12155160.
    Open access • Published • 10.3390/jcm12155160
  7. Cuchel, Marina; Lee, Paul C.; Hudgins, Lisa C.; Duell, P. Barton; Ahmad, Zahid; Baum, Seth J.; Linton, MacRae F.; et al. "Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry". Journal of the American Heart Association 12 9 (2023): e029175. http://dx.doi.org/10.1161/jaha.122.029175.
    Published • 10.1161/jaha.122.029175
  8. 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.
    Published • 10.1016/j.gim.2021.09.012
  9. Chora, Joana Rita; Bourbon, Mafalda. "Pharmacogenomics of statins and familial hypercholesterolemia". Current Opinion in Lipidology 32 2 (2021): 96-102. http://dx.doi.org/10.1097/mol.0000000000000746.
    Published • 10.1097/mol.0000000000000746
  10. Mariano, Cibelle; Alves, Ana Catarina; Medeiros, Ana Margarida; Chora, Joana; Antunes, Marilia; Futema, Marta; Humphries, Steve E.; Bourbon, Mafalda. "The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes". Clinical Genetics 97 3 (2020): 457-466. http://dx.doi.org/10.1111/cge.13697.
    Published • 10.1111/cge.13697
  11. Alves, Ana C.; Chora, Joana Rita; Bourbon, Mafalda. "Genomics of familial hypercholesterolaemia". Current Opinion in Lipidology 30 2 (2019): 148-150. http://dx.doi.org/10.1097/mol.0000000000000584.
    Published • 10.1097/mol.0000000000000584
  12. Michael A. Iacocca; Chora, Joana; Alain Carrié; Tomas Freiberger; Sarah E. Leigh; Joep C. Defesche; C. Lisa Kurtz; et al. "ClinVar database of global familial hypercholesterolemia-associated DNA variants". Human Mutation 39 11 (2018): 1631-1640. https://doi.org/10.1002/humu.23634.
    Published • 10.1002/humu.23634
  13. Chora, Joana Rita; Medeiros, Ana Margarid; Alves, Ana Catarina; Bourbon, Mafalda. Corresponding author: Bourbon, Mafalda. "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://dx.doi.org/10.1038/gim.2017.151.
    Published • 10.1038/gim.2017.151
  14. Chora, Joana; Alves, Ana Catarina; Medeiros, Ana Margarida; Mariano, Cibelle; Lobarinhas, Goreti; Guerra, António; Mansilha, Helena; Cortez-Pinto, Helena; Bourbon, Mafalda. "Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?". Journal of Clinical Lipidology 11 2 (2017): 477-484. http://dx.doi.org/10.1016/j.jacl.2016.11.002.
    Open access • Published • 10.1016/j.jacl.2016.11.002
  15. Matos, Tiago Daniel; Simões-Teixeira, Helena; Caria, Helena; Gonçalves, Ana Cláudia; Chora, Joana; Correia, Maria do Céu; Moura, Carla; et al. "Spectrum and frequency ofGJB2mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients". International Journal of Audiology 52 7 (2013): 466-471. http://dx.doi.org/10.3109/14992027.2013.783719.
    Published • 10.3109/14992027.2013.783719
  16. Gonçalves, Ana Cláudia; Chora, Joana; Matos, Tiago D.; Santos, Ricardo; O'Neill, Assunção; Escada, Pedro; Fialho, Graça; Caria, Helena. "A novel p.Leu213X mutation in GJB2 gene in a Portuguese family". International Journal of Pediatric Otorhinolaryngology 77 1 (2013): 89-91. http://dx.doi.org/10.1016/j.ijporl.2012.10.002.
    Published • 10.1016/j.ijporl.2012.10.002
  17. Chora, Joana; Simões-Teixeira, Helena; Matos, Tiago Daniel; Martins, Jorge Humberto; Alves, Marisa; Ferreira, Raquel; Silva, Luís; et al. "Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report". Case Reports in Genetics 2012 (2012): 1-5. http://dx.doi.org/10.1155/2012/623860.
    Open access • Published • 10.1155/2012/623860
  18. Chora, Joana; Matos, Tiago Daniel; Martins, J.H.F.; Alves, M.C.; Andrade, S.M.S.; Silva, L.F.D.S.; Ribeiro, C.A.D.R.; et al. "DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome". International Journal of Pediatric Otorhinolaryngology 74 10 (2010): 1135-1139. https://pubmed.ncbi.nlm.nih.gov/20650534/.
    Published • 10.1016/j.ijporl.2010.06.014
Newsletter article
  1. Chora, Joana Rita; Bourbon, Mafalda. "Classificação de variantes de hipercolesterolemia familiar pelo painel de peritos do Clinical Genome Resource (Familial hypercholesterolemia variant classification by the Clinical Genome Resource expert panel)", Boletim Epidemiológico Observações , 2024, https://repositorio.insa.pt/handle/10400.18/9181.
  2. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar (1999-2021): relação fenótipo-genótipo", Boletim Epidemiológico Observações , 2023
  3. Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana; Bourbon, Mafalda. "Estudo Português de Hipercolesterolemia Familiar", Boletim Epidemiológico Observações, 2017, http://hdl.handle.net/10400.18/4761.
  4. Chora, Joana; Bourbon, Mafalda. "Farmacogenética de fármacos antidislipidémicos", Boletim Epidemiológico Observações, 2017, http://hdl.handle.net/10400.18/4762.
Thesis / Dissertation
  1. "Personalized Medicine in Familial Hypercholesterolemia - diagnosis, stratification of cardiovascular disease risk and lipid therapy management". PhD, Universidade de Lisboa Faculdade de Ciências, 2023.
  2. Chora, Joana Rita Gaspar de Barros Martinho. "Contribuição para o estabelecimento de uma relação genótipo GJB2/GJB6 VS sucesso do implante coclear em indivíduos surdos da população portuguesa". Master, Universidade de Lisboa Faculdade de Ciências, 2008. http://catalogo.ul.pt/F/?func=item-global&doc_library=ULB01&type=03&doc_number=000566109.
Website
  1. Chora, Joana Rita; Bourbon, Mafalda; Evans, Elsie. PerMed FH. 2024. https://permedfh.owlstown.net/.
  2. Bourbon, Mafalda; Alves, Ana Catarina; Medeiros, Ana Margarida; Dario, Paulo. Grupo de Investigação Cardiovascular. 2022. https://gicbourbonlab.owlstown.net/.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/10/26 Portuguese Familial Hypercholesterolemia Study: 25 Years of Contributions to Atherosclerosis Prevention XXXII Congresso Português de Aterosclerose
Sociedade Portuguesa de Aterosclerose (Alcobaça, Portugal)
2024/05/28 Spectrum of gene variants in children and adults with heterozygous familial hypercholesterolaemia (FH) across world regions: A study by the EAS-FH Studies Collaboration (FHSC). 92nd European Atherosclerosis Society Congress
European Atherosclerosis Society (Lyon, France)
2023/10/28 E_LIPID - Characterization of hypercholesterolemia and association with cardiovascular disease in the Portuguese population. XXXI Congresso Português de Aterosclerose (Portuguese atherosclerosis congress)
Sociedade Portuguesa de Aterosclerose (Peniche, Portugal)
2023/01/27 Recursos da ClinGen para classificação de variantes genéticas (ClinGen resources for genetic variants classification) INSA Convida – Seminários De Investigação do Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA Invites – National Institute of Health Dr. Ricardo Jorge Research Seminars)
Instituto Nacional de Saúde Dr. Ricardo Jorge (Lisboa, Portugal)
2022/12/05 Improving Familial Hypercholesterolemia genetic diagnosis. 2022 meeting for the EAS Young Fellows programme
European Atherosclerosis Society (Vienna, Austria)
2022/10/14 Statin pharmacogenomic variants in the Portuguese population and Familial Hypercholesterolemia patients. XXX Congresso Português de Aterosclerose (Portuguese atherosclerosis congress)
Sociedade Portuguesa de Aterosclerose (Évora, Portugal)
2021/10/26 Familial hypercholesterolemia in Portugal - lipid-lowering strategies and cardiovascular disease risk 19th International Symposium on Atherosclerosis
International Society of Atherosclerosis (Kyoto, Japan)
2021/10/16 Cardiovascular risk estimation and management in Familial Hypercholesterolemia patients. XXIX Congresso Português de Aterosclerose
Sociedade Portuguesa de Aterosclerose (Aveiro)
2020/11/26 LDLR variant interpretation guidelines by the Clinical Genome Resource’s Familial Hypercholesterolemia Expert Panel. BioISI Research Day 2020
BioISI - Biosystems and Integrative Sciences Institute (Lisbon, Portugal)
2020/10 Specification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panel. 88th European Atherosclerosis Society Congress
European Atherosclerosis Society
2020/02/14 Prevalence of statin pharmacogenomic SNPs in Portugal GERC and GEBCGC Joint Reunion “Riscar o Risco”
Sociedade Portuguesa de Cardiologia (Lisboa, Portugal)
2019/03/29 10-year risk of fatal cardiovascular disease (SCORE) and lipid targets in the Portuguese population GERC, GEBCGC and CPPC Joint Reunion “Riscar o Risco”
Sociedade Portuguesa de Cardiologia (Porto, Portugal)
2019/02/22 Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis Congresso Novas Fronteiras em Medicina Cardiovascular
AIDFM (Óbidos, Portugal)
2018/10/26 Familial hypercholesterolemia-associated variants in ClinVar Congresso Português de Aterosclerose
Sociedade Portuguesa de Aterosclerose (Porto, Portugal)
2017/10/27 Classification of variants associated with Familial Hypercholesterolemia worldwide Congresso Português de Aterosclerose
Sociedade Portuguesa de Aterosclerose (Coimbra, Portugal)
2014/11/29 Surdez Infantil - Importância da análise genética (Infantile Deafness - The importance of genetic analysis) II Seminar of OUVIR
OUVIR - Portuguese Association of Prosthetics and Hearing Implant Carriers (Lisbon, Portugal)
2014/11/03 Genetic Etiology of Presbycusis in Portugal Inner Ear Biology Workshop
(Kyoto, Japan)
2013/05/24 Contribution of genetics to the prognosis of oral (re)habilitation after Cochlear Implant European Symposium on Paediatric Cochlear Implantation
(Instanbul, Turkey)
2011/09/19 Prevalence of GJB2 mutations in the Portuguese mainland population Inner Ear Biology Workshop
(Lisbon, Portugal)
2011/09/19 Contribution of GJB2 mutations for non-syndromic sensorineural hearing loss in Portugal Inner Ear Biology Workshop
(Lisbon, Portugal)
2010/10/29 Contribuição da genética para o prognóstico da reabilitação oral em indivíduos com implante coclear: Um estudo conjunto CHC-FCUL (Genetics contribution to prognosis of oral rehabilitation in individuals with cochlear implant: A joint CHC-FCUL study) Cochlear Implant International Congress
(Coimbra, Portugal)
2010/08/30 Two Portuguese cochlear implanted dizygotic twins: a case report Inner Ear Biology Workshop
(Prague, Czech Republic)
2008/09/22 GJB2 analysis in Portuguese cochlear implant users Inner Ear Biology Workshop
(Ferrara, Italy)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2023/10/01 - Current Scores de risco genético para valores lipídicos em indivíduos com fenótipo de Hipercolesterolemia Familiar (Genetic risk scores for lipid levels in patients with Familial Hypercholesterolemia phenotype)
Co-supervisor
 Biologia Molecular e Genética (Master)
Universidade de Lisboa Faculdade de Ciências, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2024/04/01 - 2024/05/24 ‘PerMedFH – Personalizing diagnosis and treatment for Familial Hypercholesterolaemia patients’ in person meeting 2024, held at Marriott Lyon Cité Internationale hotel in Lyon, France. (2024/05/24 - 2024/05/24)
Meeting (Member of the Organising Committee)
2018/05/04 - 2018/05/05 Symposium of the Iberoamerican Familial Hypercholesterolemia network (2018/05/04 - 2018/05/05)
Symposium (Member of the Organising Committee)
 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2023/11/24 - 2023/11/24 Evento Comemorativo do Dia Mundial da Ciência (World Science Day Commemorative Event) – ‘Rastreios - análise da pressão arterial e IMC’ (‘Screenings - analysis of blood pressure and BMI’) held at the Escola Nacional de Saúde Pública, Universidade NOVA de Lisboa
Other
 Evento Comemorativo do Dia Mundial da Ciência (World Science Day Commemorative Event)
Universidade NOVA de Lisboa Escola Nacional de Saúde Pública, Portugal
2023/09/29 - 2023/09/29 European Researcher's Night 2023 – ‘Inherited cholesterol - a common disease that causes premature cardiovascular disease’ held at Museu Nacional de História Natural e da Ciência, Lisboa.
Exhibition
 European Researcher's Night 2023
Universidade de Lisboa, Portugal
2023/05/05 - 2023/05/05 Rede Saúde (Health Network) Workshop ‘Evolução da Doença Cardiovascular em Portugal: Da evidência às políticas públicas’ (Evolution of Cardiovascular Disease in Portugal: From evidence to public policy) held at Reitoria da Universidade de Lisboa in Lisbon, Portugal.
Workshop
 Evolução da Doença Cardiovascular em Portugal: Da evidência às políticas públicas
2021/11/17 - 2021/11/17 ESPT (European Society of Pharmacogenomics and Personalised Therapy) Virtual Congress "Latest developments in Pharmacogenomics research and clinical implementation".
Congress
 ESPT Virtual Congress “Latest developments in Pharmacogenomics research and clinical implementation”
European Society of Pharmacogenomics and Personalised Therapy, Italy
2018/11/20 - 2018/11/21 ICPerMed Conference 2018 'Personalised Medicine in Action' held at the dbb forum in Berlin, Germany
Congress
 Personalised Medicine in Action
International Consortium for Personalised Medicine (ICPerMed), Germany
2018/05/28 - 2018/05/28 Pharmacy @ Lisbon - 1st Annual Conference of Research in Pharmacy Practice, Pharmacoepidemiology & Public Health (P4H) held at Faculdade de Farmácia da Universidade de Lisboa in Lisbon, Portugal.
Conference
 Pharmacy Practice, Pharmacoepidemiology & Public Health (P4H)
Universidade de Lisboa Faculdade de Farmácia, Portugal

Association member

Society Organization name Role
2017/06/30 - 2024/07/01 European Atherosclerosis Society Regular member

Committee member

Activity description
Role 		Institution / Organization
2016 - Current Member of the FH Expert Panel Variant Curation at Clinical Genome Resource (cardiovascular working group). I am a scientific lead (since 2016), curator and curator trainer (since 2021), and reviewer (since 2022) for the ClinGen FH VCEP
Member
 Clinical Genome Resource, United States

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2020/10/16 - 2023/09/15 "Classification of genetic variants for clinical use - the case of Familial Hypercholesterolemia (Part 2): How to classify LDLR variants" 1 hour practical lesson Curso pós-graduado genética e genómica para clínicos (Especialização pós-licenciatura) Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2019/03/16 - 2019/03/16 Computer Lab training on Genetic Dyslipidemias (Genetic diagnosis of FH) 3 hour practical lesson Masters on Clinical-laboratory technologies (Mestrado) Instituto Politécnico de Lisboa Escola Superior de Tecnologia da Saúde de Lisboa, Portugal
2015/04/21 - 2018/06/26 Computer Lab training on Genetic Dyslipidemias (Identification of gene mutations) 3 hour practical lesson BioSys PhD Programme (Curso de doutoramento (conclusão de unidades curriculares)) Universidade de Lisboa Faculdade de Ciências, Portugal
2013/03/05 - 2014/03/21 Genetics of Hereditary Hearing Loss 1 hour theoretical lesson Biologia Molecular e Genética (Mestrado integrado) Universidade de Lisboa Faculdade de Ciências, Portugal
2014/03/06 - 2014/03/06 Computer Lab training on Communication Disorders (Case studies) 3 hour practical lesson BioSys PhD Programme (Curso de doutoramento (conclusão de unidades curriculares)) Universidade de Lisboa Faculdade de Ciências, Portugal
2011/02/07 - 2011/02/11 Lab training on Molecular Biology techniques 1 week workshop (Outros) Universidade de Lisboa Faculdade de Ciências, Portugal
2009/10/28 - 2009/11/04 Lab training on Practical and Experimental Work (Molecular Biology techniques) in Biology Teaching 4 hours theoretical and practical lesson (Outros) Universidade de Lisboa Faculdade de Ciências, Portugal

Journal scientific committee

Journal title (ISSN) Publisher
2019/08 - 2023/03 Circulation: Genomic and Precision Medicine (2574-8300) American Heart Association
2022/08 - 2022/08 Arteriosclerosis, Thrombosis, and Vascular Biology

Mentoring / Tutoring

Topic Student name
2021/07 - Current Level 2 training in LDLR variant classification for the ClinGen FH VCEP Several individuals, 1 month each
2024/02/19 - 2024/02/19 Training on ClinGen resources for genetic variants classification and on classification of LDLR variants in Familial Hypercholesterolemia 9 atendees
Distinctions

Award

2021 Pedro Marques da Silva award
Sociedade Portuguesa de Aterosclerose, Portugal
2020 1st place in the Best scientific communication Award
Sociedade Portuguesa de Cardiologia, Portugal
2018 3rd Place in the Best Scientific Article Award
Associação para a Investigação e Desenvolvimento da Faculdade de Medicina, Portugal

CETERA, Portugal

Other distinction

2018 Honorable Mention Prémio BIAL de Medicina Clínica
Fundação Bial, Portugal