Identification
Personal identification
- Full name
- Ana Joana Borges Duarte
Citation names
- Duarte, Ana Joana
Author identifiers
- Ciência ID
- 4F11-0EFD-0103
- ORCID iD
- 0000-0002-6774-4886
Email addresses
- ana.duarte@insa.min-saude.pt (Professional)
Knowledge fields
- Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions
- Medical and Health Sciences - Basic Medicine - Human Genetics
Languages
Language | Speaking | Reading | Writing | Listening | Peer-review |
---|---|---|---|---|---|
Portuguese | Advanced (C1) | Advanced (C1) | Advanced (C1) | Advanced (C1) | |
English | Intermediate (B1) | Advanced (C1) | Intermediate (B1) | Intermediate (B1) | |
Spanish; Castilian | Beginner (A1) | Intermediate (B1) | Beginner (A1) | ||
French | Beginner (A1) | Intermediate (B1) | Beginner (A1) | Beginner (A1) |
Education
Degree | Classification | |
---|---|---|
2017/07 - 2023/11
Ongoing
|
Doutoramento em Ciências Biomédicas (Doutoramento)
Major in Genética Humana
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
|
2008
Concluded
|
Mestrado em Biologia (Mestrado)
Universidade do Porto Faculdade de Ciências, Portugal
"Estudo de mosaicismo em casos de Restrição de Crescimento Intra-Uterino por Hibridação Genómica Comparativa" (THESIS/DISSERTATION)
|
17 Valores |
2006
Concluded
|
Biologia (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Mecanismos Neurohumorais e Endoteliais na Insuficiência Cardíaca Diastólica" (THESIS/DISSERTATION)
|
14 Valores |
Affiliation
Other Careers
Category Host institution |
Employer | |
---|---|---|
2019/02/01 - Current | Técnico Superior (Técnico Superior) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal |
Others
Category Host institution |
Employer | |
---|---|---|
2017/07 - Current | Estudante de Doutoramento | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal | ||
2015/01/02 - Current | I&D group member | Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal |
2020/04 - 2023/12 | Colaborador na implementação dos testes moleculares de SARS-Cov-2 no INSA Porto | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal | ||
2016/05/02 - 2017/08/31 | FCT Research Fellow in the project “Cellular models for the study of lysosomal dysfunction and correction mechanisms (CeMoLy)”, with the reference PTDC/BIM-MEC/4762/2014. | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal |
2015/09/14 - 2016/04/29 | Collaborator I&D in the Lysosomal Storage Disorders group at Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA, IP), Porto. | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal |
2013/04/01 - 2015/07/31 | Grant winner and Investigator of the project "Molecular and cellular defects of cystatin B - from cell to population", Genzyme Investigation Grant 2013. http://www.spdm.org.pt/bolsas/bolsas-atribuida | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal |
2013/02/04 - 2013/03/15 | Colaboration, organization and participation in the International event "Brain Awareness Week" from Dana Foundation, USA. http://www.dana.org/baw/reportdetail.aspx?id=109535 | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Genética Médica Jacinto de Magalhães, Portugal |
2012/06/01 - 2012/12/31 | Collaborator on the project “Prognosis and prevention in a few inherited diseases existing in the Portuguese population” (PIC/IC/82822/2007). Research in Lysosomal Storage Disorders. | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Genética Médica Jacinto de Magalhães, Portugal |
2009/06/01 - 2012/05/31 | FCT Research Fellow: FCT PIC/IC/82822/2007 “Prognosis and prevention in a few inherited diseases existing in the Portuguese population ”. Area: Lysosomal Storage Disorders. Four peer-reviewed articles | Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Genética Médica Jacinto de Magalhães, Portugal |
2007/01/02 - 2008/12/31 | I&D group member | Universidade do Porto Unidade de Investigação e Desenvolvimento Cardiovascular, Portugal |
2007/10/01 - 2008/12/18 | Master in Biology: Thesis title: “Estudo de Mosaicismo Cromossómico em casos de Restrição de Crescimento Intra-Uterino por Hibridação Genómica Comparativa”. Three works presented in conferences. | Universidade do Porto Faculdade de Medicina, Portugal |
2007/05/07 - 2008/05/18 | Diagnosis in Cytogenetics: - Karyotype analysis - G banding - Cell culture - FISH (Fluorescence in situ hybridization) | Universidade do Porto Faculdade de Medicina, Portugal |
2006/08/14 - 2007/04/27 | Postgraduate training: I continued the studies with endothelin -1 and initiated studies with urocortin - 2 in papillary muscles from New Zealand rabbit. Co-author of one article. Eight conference pape | Universidade do Porto Faculdade de Medicina, Portugal |
2006/02/01 - 2006/07/14 | Academic training: Thesis title: “Mecanismos Neurohumorais e Endoteliais na Insuficiência Cardíaca Diastólica” In vitro evaluation of endothelin-1 action in papillary muscles from New Zealand rabbit. | Universidade do Porto Faculdade de Medicina, Portugal |
Projects
Grant
Designation | Funders | |
---|---|---|
2019/01 - Current | Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells
2019DGH1629/SPDM2018I&D
Researcher
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal
|
Sociedade Portuguesa de Doenças Metabólicas (Portuguese Society for Metabolic Disorders)
Concluded
|
2017/09/01 - Current | Fabry disease: from iPS cells to Genomic Editing
SFRH/BD/118009/2016
PhD Student Fellow
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2023/06 - 2025/03 | ModellingMLII - New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step
towards the development of new therapies
2022.03836.PTDC
Researcher
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2023/03/01 - 2024/09/30 | Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents (ASOs2cureMPSIII)
-
Researcher
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2013/05/02 - 2014/12/31 | Cystatin B: From cell to population
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal
|
Genzyme Corporation
Concluded
|
Contract
Designation | Funders | |
---|---|---|
2020/01/01 - Current | Genetic Substrate Reduction Therapy for Mucopolysaccharidoses - Toward a siRNA-containing nanoparticle targeted to brain cells
2019DGH1656/SCF2019I&D
Researcher
Sanfilipo Childrens Foundation, Australia
|
Sanfilipo Childrens Foundation
Ongoing
|
2023/03/01 - 2025/02/28 | Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents
2022.04667.PTDC
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal
Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal Centro Hospitalar Universitário de Santo António, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Centro Hospitalar Universitário Lisboa Norte EPE, Portugal Centro Hospitalar Universitário de São João, Portugal Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal |
Fundação para a Ciência e a Tecnologia
Ongoing
|
2022/01/01 - 2023 | Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
EXPL/BTM-SAL/0659/2021
Researcher
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2016/05/01 - 2020/01/31 | Cellular models for the study of lysosomal dysfunction and correction mechanisms (CeMoLy) - Modelos celulares para o estudo
de mecanismos de disfunção e correção lisossomal
PTDC/BIM-MEC/4762/2014
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Universidade do Algarve, Portugal Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
2019/01/01 - 2019/12/31 | Center for the Study of Animal Science
UID/Multi/00211/2019
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
2009/01/01 - 2012/12/30 | Prognóstico e prevenção em algumas doenças hereditárias existentes na população portuguesa
PIC/IC/82822/2007
Research Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
Outputs
Publications
Book chapter |
|
Conference abstract |
|
Conference paper |
|
Conference poster |
|
Journal article |
|
Newsletter article |
|
Thesis / Dissertation |
|
Activities
Oral presentation
Presentation title | Event name Host (Event location) |
|
---|---|---|
2023/09/20 | Modelling Lysosomal Storage Disorders using iPSCs and gene-edited zebrafish | Seminários do Departamento de Genética Humana
Instituto Nacional de Saúde Doutor Ricardo Jorge (Porto, Portugal)
|
2023/06 | Generating gene-edited models for Lysosomal Storage Disorders | 2th AL4AnimalS Meeting
Universidade de Trás-os-Montes e Alto Douro (Vila Real, Portugal)
|
2023/05 | How to establish stem cell cultures from the dental pulp: a practical guide | 2th AL4AnimalS Meeting
Universidade de Trás-os-Montes e Alto Douro (Vila Real, Portugal)
|
2023/03/31 | Gene editing on iPS cells: the first steps | IV CECA Meeting
Universidade do Porto (Porto, Portugal)
|
2023/03 | Help comes from unexpected places: How a tiny fairy and a tropical fish may help us model mucopolysccharidoses | 19th International Symposium of the Portuguese Society for Metabolic Disorders
Portuguese Society for Metabolic Disorders (Figueira da Foz, Portugal)
|
2022/11 | Use of stem cells to elucidate disease pathology and impacts of substrate | Global Symposium on Lysosomal Storage Disorders
(Berlim, Germany)
|
2022/11 | Modelling genetic disorders with an unexpected co-worker: the Tooth Fairy that gifts hope to both children and scientists | Modelling genetic disorders with an unexpected co-worker: the Tooth Fairy that gifts hope to both children and scientists.
Centro de Investigação Interdisciplinar em Sanidade Animal (CIISA) Congress 2022
Faculdade de Medicina Veterinária - Universidade de Lisboa (Lisboa, Portugal)
|
2022/06 | From fibroblasts to cardiomyocytes and beyond | Workshop Sphingolipids in Health and Disease
Aveiro University (Aveiro, Portugal)
|
2021/10/02 | iPSCs como modelos celulares para doenças raras | V Jornadas Científicas do CECA
Instituto de Ciências Biomédicas Abel Salazar (PORTO, Portugal)
|
2021/10/02 | RNA como alvo terapêutico: Desenvolvimento de abordagens inovadoras utilizando oligonucleótidos sintéticos | V Jornadas Científicas do CECA
Instituto de Ciências Biomédicas Abel Salazar (PORTO, Portugal)
|
2021/04/29 | De célula somática a estaminal e novamente somática: iPSCs como modelos celulares para doenças raras | INSA Convida
Instituto Nacional de Saúde Dr. Ricardo Jorge (Portugal)
|
2020/02/22 | Novel tools in cell and molecular biology: induced pluripotent stem cells in the field of lysosomal storage disorders |
XII Jornadas de Genética e Biotecnologia / II Jornadas Ibéricas de Genética e Biotecnologia (Portugal)
|
2018/10/29 | Fabry Disease: from iPS cells to Genomic Editing | Seminário "À volta da Investigação"
Instituto Nacional de Saúde Dr. Ricardo Jorge (Portugal)
|
2018/06/14 | Inducing Pluripotent Stem Cells in Fibroblasts from Patients with Lysosomal Storage Disorders | Seminários do Departamento de Genética Humana
Instituto Nacional de Saúde Dr. Ricardo Jorge (Portugal)
|
2017/05/08 | Splicing therapeutics for patients affected by lysosomal storage disorders | 2º Dia do Jovem Investigador do Instituto Nacional de Saúde Doutor Ricardo Jorge
Instituto Nacional de Saúde Doutor Ricardo Jorge (Portugal)
|
2016/07 | Rare diseases - our task: Foreseen accomplishments through precision cellular and molecular biology | 14th European Scientific & Training Conference
(Poland)
|
2016/03/18 | Development of RNA based approaches to exploit alternative therapies for lysosomal storage diseases. | 12th SPDM symposium
Sociedade Portuguesa de Doenças Metabólicas (Portugal)
|
2014/03/20 | Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene | 10th SPDM International Symposium
Sociedade Portuguesa de Doenças Metabólicas (Portugal)
|
2010/06/12 | Genetic diversity in lysosomal disorders in Portugal | Genetics 2010: model organisms to human biology
The Genetics Society of America Conferences (United States)
|
2007/06/16 | Urocortin 2 acutely decreases myocardial stiffness | XI Workshop of the ESH Young Investigator Initiative Group
(Italy)
|
2007/03/21 | Efeitos Miocárdicos da Urocortina 2 | XXVIII Congresso Português de Cardiologia
(Portugal)
|
2007/01/24 | Nitric oxide and prostaglandins – key downstream modulators of endothelin-1 induced increase in myocardial distensibility | Winter Meeting on Translational Basic Science of the Heart Failure Association (HFA) of the European Society of Cardiology
(ESC) - From Cardiac Adaptation to Failure and Back
(Germany)
|
2006/09/02 | NO and prostaglandins are required for the increase in myocardial distensibility induced by ET-1 | XVth World Congress of Cardiology 2006
(Spain)
|
2006/03/22 | O aumento da distensibilidade miocárdica induzido pela endotelina-1 depende da libertação endotelial de NO e prostaglandinas | XXVII Congresso Português de Cardiologia
(Portugal)
|
Supervision
Thesis Title Role |
Degree Subject (Type) Institution / Organization |
|
---|---|---|
2021/04/01 - 2021/07/15 | Estratégia de Investigação da Doença de Fabry
Supervisor
|
Genetics and Biotechnology (Degree)
Universidade de Trás-os-Montes e Alto Douro, Portugal
|
Event organisation
Event name Type of event (Role) |
Institution / Organization | |
---|---|---|
2023/02/28 - 2023/02/28 | Rare Disease Day 2023 (2023/02/28 - 2023/02/28)
Other (Member of the Organising Committee)
|
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Fundação para a Ciência e a Tecnologia, Portugal |
2022/02/28 - 2022/02/28 | Rare Disease Day 2022 (2022/02/28 - 2022/02/28)
Other (Member of the Organising Committee)
|
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2022/01/02 - 2022/02/28 | Dia das Doenças Raras 2022 - Sensibilizar, Conhecer e Promover a mudança para 6% da população (Rare Disease Day 2022) (2022/02/28 - 2022/02/28)
Congress (Member of the Organising Committee)
|
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2018/10/29 - 2018/10/29 | Seminário "À volta da Investigação". (2018/10/29 - 2018/10/29)
Conference (Member of the Organising Committee)
|
Instituto Nacional de Saúde Doutor Ricardo Jorge - Centro de Saúde Pública Dr. Gonçalves Ferreira, Portugal |
Distinctions
Award
2019 | Best poster - 13th European Working Group on Gaucher Disease Congress |
2016 | SPDM award winning presentation 2016. 12th SPDM symposium. March 17-18, Coimbra, Portugal, 2016. Apresentação: "Development of RNA based approaches to exploit alternative therapies for lysosomal storage diseases". |
2013 | National Award: Genzyme Research Grant / Portuguese Society of Metabolic Diseases 2012
Sociedade Portuguesa de Osteoporose e Doenças Ósseas Metabólicas, Portugal
|
2013 | National Award: Genzyme Research Grant |
2007 | International Award: Young Investigators Award - Travel Grant of European Society of Hypertension for XVIIth Meeting of European Society of Hypertension, atribuído ao trabalho “Urocortin 2 acutely decreases myocardial stiffness” |
2007 | International Award: Grant of European Society of Hypertension Young Investigator Initiative Group – 2007, atribuída ao trabalho “Functional evidence for the existence of ETA-ETB receptor crosstalk in the heart” |
Other distinction
2007 | International Award: Young Investigators Award - Travel Grant of European Society of Hypertension for XVIIth Meeting of European Society of Hypertension, atribuído ao trabalho “Urocortin 2 acutely decreases myocardial stiffness” |
2007 | International Award: Grant of European Society of Hypertension Young Investigator Initiative Group – 2007, atribuída ao trabalho “Functional evidence for the existence of ETA-ETB receptor crosstalk in the heart” |