Identification
            Personal identification
- Full name
- Astrid Vicente
- Gender
- Female
Citation names
- Vicente, Astrid
- Astrid M Vicente
Author identifiers
- Ciência ID
- 3812-4952-7043
- ORCID iD
- 0000-0001-7134-8037
Email addresses
- astrid.vicente@insa.min-saude.pt (Professional)
- amvicente@fc.ul.pt (Professional)
Telephones
- Telephone
- 
                           - 217501529 (Professional)
 
Addresses
- Instituto Nacional de Saúde Doutor Ricardo Jorge. Av. Padre Cruz, 1649-016, Lisboa, Lisboa, Portugal (Professional)
Knowledge fields
- Medical and Health Sciences - Basic Medicine - Human Genetics
Education
            | Degree | Classification | |
|---|---|---|
| 1996 Concluded | Biologia Molecular (Doutoramento) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal "The Neurodevelopmental Hypothesis of Schizophrenia: Molecular Genetic Studies" (THESIS/DISSERTATION) | |
| 1991 Concluded | Mestrado em Biotecnologia especialidade Biologia Molecular (Mestrado) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal "CYP2C7 - Estudos de Expressão e Regulação pelo Substrato Ácido 
                                       Retinóico.
                                       " (THESIS/DISSERTATION) | |
| 1988 Concluded | Bioquímica (Licenciatura) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal "Biologia Molecular do Virus HBV" (THESIS/DISSERTATION) | 
Affiliation
            Science
| Category Host institution | Employer | |
|---|---|---|
| 2015 - Current | Principal Investigator (Research) | Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal | 
| 2004/08/15 - Current | Principal Investigator (Research) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2007 - 2012 | Principal Investigator (Research) | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| Center for Biodiversity, Functional and Integrative Genomics - BioFIG, Portugal | ||
| 2006/10/01 - 2010 | Visiting Researcher (Research) | Instituto Gulbenkian de Ciência, Portugal | 
| 1999/06/01 - 2006/09/30 | Principal Investigator (Research) | Instituto Gulbenkian de Ciência, Portugal | 
| 1998/02/01 - 1999/05/31 | Postdoc (Research) | Instituto Gulbenkian de Ciência, Portugal | 
| 1996/09/01 - 1998/01/31 | Postdoc (Research) | Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal | 
Teaching in Higher Education
| Category Host institution | Employer | |
|---|---|---|
| 2015/08/15 - Current | Invited Associate Professor (University Teacher) | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 1997/10/01 - 1999/07/31 | Visiting Teacher (Polytechnic Teacher) | Instituto Piaget, Portugal | 
| 1990/10/01 - 1991/07/31 | Visiting Professor (University Teacher) | Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal | 
Positions / Appointments
| Category Host institution | Employer | |
|---|---|---|
| 2012/12/01 - Current | Organic Unit Director | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| Department of Health Promotion and Non-Communicable Disease Prevention, Portugal | ||
| 2005 - 2012 | Organic Unit Director | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| Research and Development Unit, Department of Health Promotion and Non-Communicable Disease Prevention, Portugal | 
Projects
            Grant
| Designation | Funders | |
|---|---|---|
| 2016 - 2017 | Use of an Early Life Exposure Assessment Tool (ELEAT) for Autism in Portugal 2016DPS1311 Principal investigator
                                    
                                  | Autism Science Foundation Concluded | 
| 2014 - 2015 | Bem entender a Saúde (BEnS) 2013DPS914 Principal investigator
                                    
                                  | Fundação Calouste Gulbenkian Concluded | 
| 2010 - 2014 | Enhancing the Scientific Study of Early Autism (ESSEA) BM1004 Researcher
                                    
                                  | European Cooperation in Science and Technology Concluded | 
| 2007 - 2010 | Estudo de factores imunológicos e de neuroprotecção em pacientes com autismo . Principal investigator
                                    
                                  | |
| 2007 - 2009 | Biomarkers in Alzheimer´s Disease: the lipid homeostasis/oxydative stress connection . Other
                                    
                                  | |
| 2005 - 2007 | Autoantibody repertoires and regulatory T-cells in human and murine lupus Researcher
                                    
                                  | Fundação para a Ciência e a Tecnologia Concluded | 
| 1999 - 2002 | Epidemiology of Autism in Portugal cc Principal investigator
                                     Instituto Gulbenkian de Ciência, Portugal | Fundação Calouste Gulbenkian Concluded | 
Contract
| Designation | Funders | |
|---|---|---|
| 2023/09/22 - 2027/09/21 | A European consortium to determine how complex, real-world environments influence brain development (ENVIRO-DEV) Collaborator, Management Committee Member for Portugal 
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | Ongoing | 
| 2023/09/21 - 2027/09/20 | A Personalized Prevention Roadmap for the future Healthcare (PROPHET) Researcher
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | European Commission Ongoing | 
| 2022 - 2026 | Genomic Data Infrastructure (GDI) Digital Europe Program, ref 101081813 Researcher
                                    
                                  | European Commission Ongoing | 
| 2022 - 2024 | Building the EU Cancer and Public Health Genomics platform (Can.Heal) Ref 101080009 | European Commission | 
| 2020/01/01 - 2023/12/31 | Biosystems and Integrative Sciences Institute UIDB/04046/2020 Researcher
                                     FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Minho, Portugal Universidade de Trás-os-Montes e Alto Douro, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
| 2020/06/01 - 2023/10/31 | Beyond 1 Million Genomes Project 	 951724  (	 B1MG 	) Researcher
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | Concluded | 
| 2022/01/01 - 2023/06/30 | Deep graph learning approaches to personalized medicine EXPL/CCI-BIO/0126/2021 FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal Universidade de Lisboa Instituto de Biossistemas e Ciências Integrativas, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | Fundação para a Ciência e a Tecnologia Ongoing | 
| 2019/10/01 - 2023/06/30 | Gene-Environment Interaction in Autism Spectrum Disorder PTDC/MED-OUT/28937/2017 Principal investigator
                                     FCiênciasID Associação para a Investigação e Desenvolvimento de Ciências, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
| 2020 - 2021 | Saúde Mental em Tempos de Pandemia COVID-19 (SM-COVID19) 279_596885124 Researcher
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | FCT Concluded | 
| 2017/02 - 2020/01 | Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across the lifespan (MEDPERSYST) POCI-01-0145-FEDER-016428 | Portugal2020 Concluded | 
| 2015/02 - 2018/02 | Autism Spectrum Disorder in Europe (ASDEU) Service Contract  NUMBER -DG-SANTÉ/2014/C2/035 Researcher
                                    
                                  | Directorate-General of Health and Consumers of the European Commission (DG-SANCO) Concluded | 
| 2015 - 2018 | BioISI - Instituto de Biosistemas & Ciências Integrativas Unidade de I&D 2013DPS928 Researcher
                                    
                                  | Fundação para a Ciência e a Tecnologia Concluded | 
| 2014 - 2017 | Joint Action on Chronic Disorders (CHRODIS-JA) 2013DPS858 Researcher
                                    
                                  | Concluded | 
| 2012/02 - 2015/07 | Identifying the early signs of Autism Spectrum Disorder - integration of behavioral and genetic information for early autism
                                 detection in an at-risk population Principal investigator
                                    
                                  | Fundação para a Ciência e a Tecnologia, I.P. Concluded | 
| 2011/01/01 - 2013/12/31 | Strategic Project - UI 4046 - 2011-2012 PEst-OE/BIA/UI4046/2011 Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Minho, Portugal Universidade do Algarve, Portugal Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
| 2010 - 2013 | Gene-environment interactions in health and disease, a Portuguese survey PTDC/SAU-ESA/101743/2008 Researcher
                                    
                                  | Fundação para a Ciência e a Tecnologia Concluded | 
| 2009 - 2013 | Inhibited and indiscriminate attachment disordered behaviours in institutionally-reared children: A multilevel comparison
                                 with autism spectrum disorders and Williams syndrome PTDC/PSI-PCL/101506/2008  Researcher
                                    
                                  | Concluded | 
| 2007/09/01 - 2011/02/28 | Epidemiologia genética dos acidentes vasculares cerebrais na era pós-genómica PTDC/SAU-GMG/64426/2006 Co-Principal Investigator (Co-PI)
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade de Lisboa Instituto de Medicina Molecular João Lobo Antunes, Portugal Fundação Calouste Gulbenkian, Portugal Instituto Gulbenkian de Ciência, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
| 2007 - 2011 | Molecular Genetics and Functional Genomics of Autism Spectrum Disorders Principal investigator
                                     Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
| 2007/04 - 2010/04 | Autism Genome Project Researcher
                                    
                                  | Autism Speaks Concluded | 
| 2007 - 2010 | The Autism Simplex Collection (TASC) cc Researcher
                                    
                                  | Concluded | 
| 2003 - 2007 | Pharmacogenetics of risperidone therapy in autism spectrum disorders. POCTI/FCB/44706/2002 Principal investigator
                                    
                                  | Universidade de Coimbra Concluded | 
| 2002 - 2006 | Genetic Epidemiology of Autism Spectrum Disorders POCTI/ESP/39636/2001 Principal investigator
                                     Instituto Gulbenkian de Ciência, Portugal | Fundação para a Ciência e a Tecnologia Concluded | 
Outputs
            Publications
| Book chapter | 
 | 
| Conference abstract | 
 | 
| Conference paper | 
 | 
| Conference poster | 
 | 
| Journal article | 
 | 
| Newsletter article | 
 | 
| Online resource | 
 | 
| Report | 
 | 
| Thesis / Dissertation | 
 | 
| Working paper | 
 | 
Other
| Other output | 
 | 
Activities
            Oral presentation
| Presentation title | Event name Host (Event location) | |
|---|---|---|
| 2023/11/22 | Personalised medicine – the future is now, Roundtable Discussion, EATRIS 10th Year Anniversary Conference, 21-22 November 2023, The Hague, The Netherlands | EATRIS (The Hague, Netherlands) | 
| 2023/11/07 | The Portuguese Strategy for Genomic Medicine and European context. Genome.PT, Symposium November 7, 2023, INSA, Lisbon, Portugal | Genome PT (Lisbon, Portugal) | 
| 2023/09/22 | The B1MG Maturity Level Model & roadmap for genomics in healthcare. Global Alliance for Genomic Health (GA4GH) National Initiatives Forum, September 2023, San Francisco, USA | Global Alliance for Genomic Health (San Francisco, United States) | 
| 2022/11/17 | Towards genomic medicine implementation. 1+MG/B1MG Celebration Event, Brussels, Belgium, November 27, 2022 | European Commission (Brusssels, Belgium) | 
| 2022/09/23 | The ICPerMed vision for Personalised Medicine in 2030 - Making progress towards implementation. Precision Medicine and Functional Genomics 2022, SIDRA Medicine, Doha, Qatar, September 22-26, 2022 | SIDRA Medicine (Doha, Qatar) | 
| 2020/11/30 | The 1+Million Genome Initiative. Building genomics genomDE: National and European initiatives, Virtual, November 30, 2020 | GenomeDE | 
| 2019/12 | Compromissos para a implementação da Agenda Estratégica para o Futuro da Medicina de Precisão em Portugal | Apresentação Publica. Panel Discussion, Ordem dos Médicos  (Lisboa, Portugal) | 
| 2019/11/16 | Perspectives on data sharing in Europe. Panel Discussion | In2 Genome Consortium Workshop  (Madrid, Spain) | 
| 2019/11/15 | The European 1+M Genomes Initiative | 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana, Fundação Bissaya Barreto  (Coimbra, Portugal) | 
| 2019/11/07 | The International Consortium for Personalised Medicine | Cluster Event on Personalised Medicine, REA  (Madrid, Spain) | 
| 2019/11/06 | The ICPerMed Vision for 2030. How can personalised approaches pave the way to next-generation medicine? | 2nd ICPerMed Workshop “Citizens, patients and implementation” Instituto de Salud Carlos III (ISCIII)  (Madrid, Spain) | 
| 2019/10/10 | Personalised Medicine and EU Cooperation ICPerMed Activities and Vision | Genomics and Personalised Medicine in Public Health, Finland’s Presidency of the Council of the European Union  (Brussels, Belgium) | 
| 2019/05/20 | The International Consortium for Personalised Medicine | International Clinical Trials Day, ECRIN  (Paris, France) | 
| 2019/05/10 | The European 1M+ Genomes Initiative | GenomePT Symposium  (Vairão, Vila do Conde, Portugal) | 
| 2019/05/07 | Medicina Personalizada: Promessas e Desafios | Seminário Ricardo Jorge, Instituto Nacional de Saúde Doutor Ricardo Jorge  (Lisboa, Portugal) | 
| 2019/03/20 | 1M Genomas Europeus: Ganhos e Desafios | eHealth Summit 2019,  Altice Arena – Sala Tejo, PT Meeting Center  (Lisboa, Portugal) | 
| 2018/12/10 | A Farmacogenómica em Farmacovigilância - Projeto RAM-Predict | Simpósio Inovação em farmacovigilância, INFARMED  (Lisbon, Portugal) | 
| 2018/11/07 | Key factors for successful translation of personalised medicine research into an added value for the patients | Personalized PREvention of Chronic Diseases (PRECeDI) MSCA-RISE project final conference: Recommendations for Personalized
                                 Medicine - the contribution of PRECeDI in the field of prevention  (Brussels, Belgium) | 
| 2018/10/26 | Medicina Personalizada: Promessas e Desafios | 21º Congresso Nacional da Ordem dos Médicos  (Lisbon, Portugal) | 
| 2018/04 | Causas ambientais do autismo e interações gene-ambiente: o que sabemos? | Seminário PIN  (Lisbon, Portugal) | 
| 2016/09 | Prevalence of Autism Spectrum Disorder in the central region of Portugal | Autism Spectrum Disorders in the European Union (ASDEU)  Mid-Term Technical Workshop  (Edimburgo, United Kingdom) | 
| 2016/06 | Translating basic to clinical research and beyond, Panel Discussion | Personalised Medicine Conference  (Brussels, Portugal) | 
| 2016/04 | Maternal CNV transmission to sons with autism correlates with phenotypic traits in the Broad Autism Phenotype | International Conference for Human Genetics (ICHG)  (Kyoto, Japan) | 
| 2015/06 | Investigação no Autismo – deteção precoce | IX Seminário APPDA  ( Setúbal, Portugal) | 
| 2015/06 | Molecular basis of Autism Spectrum Disorder: towards a Systems Medicine approach | Genetics of intellectual disability – an update workshop; School of Health Sciences, University of Minho  (Braga, Portugal) | 
| 2014/05 | Molecular basis of Autism Spectrum Disorders: towards a systems medicine approach; Neurodevelopmental Disorders | Neuroscience to the Clinic Symposium, Fundação Champalimaud  (Lisboa, Portugal) | 
| 2013/11 | PARK2 deletions identified in patients with Autism Spectrum Disorder (ASD) | Annual Meeting of Sociedade Portuguesa de Genética Humana | 
| 2012/05 | O que há de novo na investigação das Perturbações do Espectro do Autismo (PEA): Epidemiologia e Genética | III Congresso Internacional sobre Síndrome de Asperger  ( Estoril, Portugal) | 
| 2011/11 | Molecular Genetics of Autism | MD PhD Program, Instituto Gulbenkian de Ciência  (Lisboa, Portugal) | 
| 2011/01 | Perturbações do Espectro do Autismo | VII Seminário de Pediatria do Neurodesenvolvimento, Sociedade Portuguesa de Pediatria  (Porto, Portugal) | 
| 2010/11 | Rare copy number variants in the ANXA1 gene in patients with autism spectrum disorders (selected for oral presentation) | Annual Meeting of the American society for Human Genetics  (Washington, United States) | 
| 2010/10 | Genómica e Saúde Pública: o Autism Genome Project | Instituto Nacional Saúde Doutor Ricardo Jorge  (Lisboa, Portugal) | 
| 2010/04 | Identificação de factores de susceptibilidade para os Distúrbios do Espectro do Autismo | Faculdade de Farmácia  (Lisboa, Portugal) | 
| 2009/05 | BDNF/TRKB signalling pathway in autism: increased plasma BDNF levels and association of NTRK2 genetic variants in an autism population sample | International Meeting for Autism Research  (Chicago, United States) | 
| 2009 | Molecular Genetics of Autism | XXXIV Reunião Anual Sociedade Espanhola de Neurologia Pediátrica e III Reunião Ibérica de Neuropediatria  (Bilbao, Spain) | 
| 2008 | Finding Genes for Complex Neuropathology - Autism, Stroke, Alzheimer’s Disease | Instituto Gulbenkian de Ciência  (Lisboa, Portugal) | 
| 2007/11 | Molecular Genetics of Autism | Sociedade Portuguesa de Genética Humana  (Lisboa, Portugal) | 
| 2007/09 | Identificação de factores de susceptibilidade para doenças multifactoriais – novos desafios e novas abordagens | Universidade de Évora  (Évora, Portugal) | 
| 2007/05 | Prevalence of Autism in Portugal | Third Autism Speaks-CDC International Autism Epidemiology Network Planning Meeting | 
| 2007/05 | Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and in the determination of platelet serotonin levels | International Meeting for Autism Research  (Seattle, United States) | 
| 2007/05 | Evidence for epistasis between SLC6A4 and ITGB3 in autism etiology and inthe determination of platelet serotonin levels | International Meeting for Autism Research  (Seattle, United States) | 
| 2006/11 | Association of the GAD1 candidate gene with autism | XIV World Congress on Psychiatric Genetics  (Cagliari, Italy) | 
| 2006/09 | A prevalence study of autism in Portugal | Panel of Experts on Autistic Spectrum Disorders - European Autism Information System (EAIS) Project  (Luxembourg) | 
| 2006/05 | Genética Molecular dos Distúrbios do Espetro do Autismo | Universidade de Évora  (Évora, Portugal) | 
| 2006/05 | Epidemiology of Autism in Portugal | Autism Speaks-CDC International Autism Epidemiology Network Planning Meeting | 
| 2005/11 | Genetic and Immune factors in Autism Spectrum Disorders | Annual Meeting of the Portuguese Society for Immunology  (Portugal) | 
| 2005/01 | Epidemiologia genética do Autismo | Seminários de Investigação Dr. Ricardo Jorge, INSA  (Lisboa, Portugal) | 
| 2004/12/29 | Curso “Genes and Neurons" | |
| 2003/11 | Serotonin transporter gene variants and platelet serotonin levels in autism spectrum disorders | International Autism Europe Congress  (Lisboa, Portugal) | 
| 2003/11 | Autism Spectrum Disorders: association studies with the BDNF gene | International Autism Europe Congress  (Lisboa, Portugal) | 
| 2003/11 | Serotonin transporter gene variants and platelet serotonin levels in autism spectrum disorders | International Autism Europe Congress  (Lisboa, Portugal) | 
| 2003/03 | BDNF and susceptibility to autism in a Portuguese population | Autism Genome Project Annual Meeting | 
| 2002/11 | Autismo – Avanços Genéticos. Síndrome de Rett e Perturbações do Espectro Autista | Simpósio, IBMC | 
| 2002/02 | Genética do Autismo | Ciclo de seminários de investigação aplicada em saúde, Escola Superior de Tecnologias da Saúde de Coimbra  (Coimbra, Portugal) | 
| 2000/11 | Genética das Doenças do Comportamento | Programa Ciência Viva – Ciclo de Colóquios: A Ciência e o Futuro da Saúde. Pavilhão do Conhecimento  (Lisboa, Portugal) | 
| 2000/03 | Genética do Autismo | Workshop “Outro dia com...o autismo infantil”  (Luso, Portugal) | 
| 1999/12 | Epidemiologia Genética do Autismo – investigação na população portuguesa | Hospital Egas Moniz  (Lisboa, Portugal) | 
| 1999/11 | Doenças Genéticas – Novas Perspectivas | Programa Ciência Viva - Semana da Ciência e Tecnologia. Instituto Gulbenkian de Ciência  (Lisboa, Portugal) | 
| 1999/06 | Elucidação das Bases Genéticas de Doenças Complexas | Serviço de Endocrinologia, Instituto Português de Oncologia  (Lisboa, Portugal) | 
| 1997/05 | Genética do Comportamento | Sociedade Ciências Médicas de Lisboa  (Lisboa, Portugal) | 
| 1997/04 | Estudos Genéticos em Esquizofrenia | IBILI  (Coimbra, Portugal) | 
| 1997/04 | Bases Moleculares do Comportamento: “Of Mice and Men” | 3º Congresso Ibérico de Terapia Comportamental e Cognitiva  (Estoril, Portugal) | 
| 1995/05 | Neurodevelopmental Genes and Schizophrenia: Hypothesis and Genetic Studies | Biomedical Department, McMaster University  (Ontário, Canada) | 
| 1992/04 | Antibody-Selected Candidate Gene for Schizophrenia: Support for the Neurodevelopment Hypothesis | Hospital for Sick Children  (Toronto, Canada) | 
Supervision
| Thesis Title Role | Degree Subject (Type) Institution / Organization | |
|---|---|---|
| 2023 - Current | Using polygenic risk scores to address the heterogeneity of Autism Spectrum Disorder - Mestrado em Bioinformática e Biologia
                                 Computacional Co-supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2023 - Current | Prediction of Genes associated with Autism Spectrum Disorder using Graph Embedding methods –Mestrado em Bioinformática e Biologia
                                 Computacional Co-supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2023 - 2027 | Healthcare 4.0: Developing management science and analytics models and tools to support the design and implementation of genomic-related
                                 policies and services in Portugal Co-supervisor | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2017 - 2024 | Role of neurotransmission and synaptic processes in Autism Spectrum Disorder – a systems medicine approach  BioSys PhD Program,
                                 Faculdade de Ciências da Universidade de Lisboa; Supervisor of Joana Vilela; | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2016 - 2024 | A role for RNA regulatory processes in Autism Spectrum Disorder; BioSys PhD Program Supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2016 - 2023/01 | Gene-environment interactions in Autism Spectrum Disorders – BioSys PhD Program, Faculdade de Ciências da Universidade de
                                 Lisboa; Supervisor of João Pedro Santos;  | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2022 - 2023 | Developing machine learning approaches to discover gene-disease associations from biological network data - Mestrado em Bioinformática
                                 e Biologia Computacional Co-supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2021 - 2022 | Gene-Environment Interactions in ASD: Targeted Sequencing to Identify Variants in XenoReg Genes - M.Sc. Molecular Life Sciences Co-supervisor | University of Hamburg, Germany | 
| 2021 - 2022 | Exploring environmental factors and gene-environment interactions in Autism Spectrum Disorder: a pilot study -  Mestrado em
                                 Biologia Humana e Ambiente Supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2014 - 2018 | A Systems Medicine approach to improve diagnosis and prognosis in Autism Spectrum Disorders (ASD), based on extensive genomic,
                                 biochemical and clinical data –  BioSys PhD Program, Faculdade de Ciências da Universidade de Lisboa; Supervisor of Muhammad Asif | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2015 - 2016 | Molecular genetics of psychological resilience – Mestrado em Biologia Molecular e Genética Supervisor | Universidade de Lisboa Faculdade de Farmácia, Portugal | 
| 2014 - 2015 | Genética molecular dos distúrbios do espetro do autismo: análise de variantes raras e miRNAs – Mestrado em Biologia Molecular
                                 e Genética Supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2013 - 2014 | Carotid sinus nerve resection: therapeutic tool for treatment of type 2 diabetes - Mestrado em Biologia Molecular e Genética Co-supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2011 - 2012 | Epidemiologia genética do Acidente Vascular Cerebral: identificação de genes envolvidos na susceptibilidade e na recuperação
                                 do doente – Mestrado em Biologia Humana e Ambiente Supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2007 - 2011 | Genetic factors involved in susceptibility to stroke and in outcome after 3 and 12 months - Faculdade de Ciências da Universidade
                                 de Lisboa; Supervisor of Helena Manso | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2007 - 2010 | Autism Genome Project – Genetic epidemiology analysis - Tiago Magalhães; Autism Genome Project; Supervisor of  Tiago Magalhães | Post doctoral fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2008 - 2009 | Influência do gene codificante da Heme Oxigenase I (HMOX1) nos acidentes vasculares cerebrais - Mestrado Integrado em Engenharia
                                 Biológica Supervisor | Universidade do Algarve, Portugal | 
| 2008 - 2009 | O envolvimento da via de sinalização FGF/FGFR na etiologia do autismo: análise genética - Mestrado em Biotecnologia Supervisor | Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal | 
| 2004 - 2009 | Genetic factors in autism spectrum disorders (ASD) and in variability in individual response to risperidone therapy; Programa
                                 de Doutoramento Instituto Gulbenkian de Ciência Supervisor | Universidade Lusíada de Lisboa Faculdade de Ciências Humanas e Sociais, Portugal | 
| 2008 - 2008 | Envolvimento da via de sinalização BDNF/TRKB na etiologia do autismo: estudos de associação e interacção genética - Mestrado
                                 em Biologia Humana e Ambiente Supervisor | Universidade de Lisboa Faculdade de Ciências, Portugal | 
| 2006 - 2008 | Regulation of serotonin and BDNF levels in autism - FCT; Supervisor of Marta Barreto | Post doctoral Fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2000 - 2005 | Behavior genetics: identification and characterization of genetic susceptibility factors for Autism Spectrum Disorders - 
                                 Faculdade de Ciências da Universidade de Lisboa; Supervisor of Ana Margarida Coutinho | Instituto Gulbenkian de Ciência, Portugal | 
| 2000 - 2005 | Identification and characterization of genetic susceptibility factors for Systemic Lupus Erythematosus - Faculdade de Ciências
                                 da Universidade de Lisboa; Supervisor of Marta Barreto;  | Instituto Gulbenkian de Ciência, Portugal | 
Event organisation
| Event name Type of event (Role) | Institution / Organization | |
|---|---|---|
| 2023 - Current | Health Technology Assessment and health economics of genomics in healthcare – key elements for implementation Workshop, no
                                 contexto do WP5 do projeto Beyond 1 Million Genomes, 18 de abril de 2023. Internacional https://b1mg-project.eu/news-events/ (2023/04/18) Meeting | |
| 2022/03/24 - Current | The B1MG Maturity Level Model Pilot Kick-Off Meeting (formato virtual), no contexto do WP5 do projeto Beyond 1 Million Genomes
                                 - 24 de Março de 2022. Internacional (Anexo F2) (2022) Meeting (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2022 - Current | Reunião de lançamento do projeto Stepping stones for implementation of a national strategy for genomic medicine in Portugal,
                                 financiado pela Direção-Geral do Apoio às Reformas Estruturais (DG_REFORM) da Comissão Europeia, INSA, 20 de dezembro 2022.
                                 Nacional. (2022) Meeting (Co-organisor) | |
| 2022 - Current | Conferência PT_MedGen - Estratégia Nacional para a Medicina Genómica, INSA, 3 de Novembro de 2022. Nacional. https://www.insa.min-saude.pt/wp-content/uploads/2022/11/AP_ConferenciaPT_MedGen.pdf (2022/11) Meeting (President of the Organising Committee) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2011/09 - Current | Biobanking for Health Research, INSA, Lisbon, September 2011 (2011) Workshop (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2000/03 - Current | “Outro dia com...o autismo infantil”. Workshop, Luso, March 2000 (2000) Workshop (Co-organisor) | Instituto Gulbenkian de Ciência, Portugal | 
| 2000/03 - Current | Autism Diagnostic Interview – Revised Workshop. Instituto Gulbenkian de Ciência, Oeiras, March 2000 (2000) Workshop (Co-organisor) | Instituto Gulbenkian de Ciência, Portugal | 
| 2022/10/18 - 2022/10/19 | B1MG Maturity Level Model Pilot Workshop, Beyond 1 Million Genomes, INSA, 18 e 19 de Outubro de 2022. Internacional. https://b1mg-project.eu/news-events/
                                  (2022) Meeting (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2021/06/16 - 2021/06/17 | Regulating the Unknown - Country Exchange Visit to Finland (Virtual), no contexto do WP5 do projeto Beyond 1 Million Genomes,
                                 16-17 June 2021. Internacional  https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW  (2021) Workshop (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2021/05/19 - 2021/05/20 | Genomics Towards Prevention - Country Exchange Visit to Estonia (Virtual), no contexto do WP5 do projeto Beyond 1 Million
                                 Genomes,19-20 May 2021. Internacional  https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW       (2021) Workshop (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2021/03/23 - 2021/03/24 | Research to Clinical Practice; From Genomics England to the NHS - Country Exchange Visit to the United Kingdom (Virtual),
                                 no context do WP5 do projeto Beyond 1 Million Genomes, 23-24 march 2021. International https://drive.google.com/drive/u/0/folders/1vI-6RrD5tHYYDmUMDu4wSNELR41aJtkW
                                  (2021) Workshop (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2017/10/24 - 2017/10/25 | ICPerMed Executive Committee Meeting, Hosted by INSA and FCT, INFARMED, Lisbon, 24-25 de Outubro 2017. Internacional https://www.icpermed.eu/en/377.php
                                  (2017) Meeting (Co-organisor) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal | 
| 2011/11/10 - 2011/11/12 | 15ª Reunião Annual da Sociedade Portuguesa de Genética Humana, Pavilhão do Conhecimento, Lisboa, Portugal – 10-12 de Novembro
                                 de 2011 (2011) Congress (President of the Organising Committee) | Sociedade Portuguesa de Genética Humana, Portugal | 
Jury of academic degree
| Topic Role | Candidate name (Type of degree) Institution / Organization | |
|---|---|---|
| 2019 | Maria de Fátima e Costa Torres, PhD thesis in Patologia e Genética Molecular submitted to University of Porto, 2019 (main
                                 examiner) (Thesis) Main arguer | Maria de Fátima e Costa Torres (PhD) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal | 
| 2014 | Application of data mining techniques to identify disease susceptibility from genotype data. Orlando Cruz Anunciação, PhD
                                 thesis submitted to the University of Lisbon, 2014 (main examiner); (Thesis) Main arguer | Orlando da Cruz Anunciação (PhD) Universidade de Lisboa Instituto Superior Técnico, Portugal | 
| 2010 | Genetic and optogenetic engineering as a strategy to probe neuronal circuits. João M. Peça, thesis submitted to the University
                                 of Coimbra, 2010 (main examiner); (Thesis) Main arguer | João Peça (PhD) | 
| 2010 | Stroke Genetics and Genomics. Tiago Krug Coelho, thesis submitted to the University of Lisbon, 2010 (main examiner). (Thesis) Main arguer | Tiago Krug Coelho (PhD) Universidade de Lisboa Faculdade de Medicina, Portugal | 
| 2008 | Genetics in the identification of molecular pathogenic mechanisms of familial migraine. Maria José Melo e Castro, thesis submitted
                                 to the University of Porto, 2008 (main examiner); (Thesis) Main arguer | Maria José Melo e Castro (PhD) | 
| 2005/09 | A candidate gene search for autismo. Judith Conroy, thesis submitted to the University of Dublin, September 2005 (main examiner); (Thesis) Main arguer | Judith Conroy (PhD) University of Dublin Trinity College, Ireland | 
Committee member
| Activity description Role | Institution / Organization | |
|---|---|---|
| 2022 - Current | ICPerMed Steering Board Member | |
| 2018/07 - Current | Representative of the Ministry of Health for the 1M Genome Initiative, in the context of the European Declaration of Cooperation
                                 "Towards access to at least 1 million sequenced genomes in the European Union by 2022”. Member | European Commission, Belgium | 
| 2015/04 - Current | Member of the ICPerMed Executive  Committee in representation of the Ministry of Health Member | International Consortium for Personalised Medicine, Belgium | 
| 2023 - 2027 | Management Committee Member, A European consortium to determine how complex, real-world environments influence brain development
                                 (ENVIRO-DEV) COST Action CA22111 Member | |
| 2021 - 2023 | Commission for the development of the National Strategy for Genomic Medicine, by nomination from the Ministry of Health of
                                 Portugal Coordinator | |
| 2010 - 2015 | Management Committee, Core Group Member e STSM Coordinator, COST action BM1004 - Enhancing the Scientific Study of Early Autism
                                 (ESSEA) Other | |
| 2007 - 2014 | Senior Investogator Committee Member, Autism Genome Project Consortium Member | 
Course / Discipline taught
| Academic session | Degree Subject (Type) | Institution / Organization | |
|---|---|---|---|
| 2014/04/01 - 2019/05/01 | Coordinator and lecturer of the Systems medicine, genomics and personalized medicine module for the PhD Programme BioSys -Biological Systems, Functional & Integrative Genomics, Faculdade de Ciência da Universidade de Lisboa | (Doctor of Philosophy) | 
Evaluation committee
| Activity description Role | Institution / Organization | Funding entity | |
|---|---|---|---|
| 2017 - Current | Grant Application Evaluator – Vice-Chair, Innovative Training Networks (ITN), Horizon 2020, 2017, 2018, 2019, 2020 Evaluator | ||
| 2015 - 2015 | 12.	Grant Application Evaluator, Future and Emerging Technologies Research and Innovation (FET OPEN), Horizon 2020, 2015 Evaluator | ||
| 2015 - 2015 | Grant Application Reviewer, Deuxiéme Programme d’Investissemnets d’Avenir RHU, funding agency Agence Nationale pour la Recherche
                                 (ANR), France, 2015 Evaluator | ||
| 2014 - 2014 | Grant Application Reviewer, Programme Appel à Projects Generique, APP Transitions et Interfaces entre Laboratoires de recherche
                                 et recherche clinique, funding agency Agence Nationale pour la Recherche (ANR), INSERM, France Evaluator | ||
| 2012 - 2012 | Grant Application Reviewer, funding agency Ontario Mental Health Foundation, OMHF grants type A 2012 , Canada Evaluator | ||
| 2011 - 2011 | 17.	Grant Application Reviewer, Applied Research project Dossier number 40-00703-97-374, funding agency ZonMw, The Netherlands, Evaluator | ||
| 2010 - 2010 | Grant Application Reviewer, funding agency German Research Foundation (DFG), eBER-10-9844, 2010 Germany Evaluator | ||
| 2009 - 2009 | Grant application reviewer, funding agency Autism Speaks, USA 2009 Evaluator | ||
| 2009 - 2009 | Grant Application Reviewer, BiotecS 2009, funding agency Agence Nationale pour la Recherche (ANR), INSERM Transfert, France Evaluator | 
Interview (tv / radio show)
| Program | Topic | |
|---|---|---|
| 2020/01/30 - 2020/01/30 | Programa Sociedade Civil | Autismo | 
Mentoring / Tutoring
| Topic | Student name | |
|---|---|---|
| 2021 - 2024 | Delivering Personalised Medicine cross-borders: Implementation in Healthcare systems and Societal Impact | Maria de Fátima Lopes | 
| 2021 - 2023 | Gene-environment interaction in Autism Spectrum Disorders (GEnvIA) – recruitment and phenotypic database management and analysis | Clarissa Faria. | 
| 2021 - 2022 | Gene-environment interaction in Autism Spectrum Disorders (GEnvIA) ¿ Data analysis. | Pedro Sampaio. | 
| 2018 - 2020 | Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across | Sonija Luzi | 
| 2018 - 2020 | Synaptic networks and personalized medicine approaches to understand neurobehavioral disease across the lifespan – phenotype-genotype analysis for ASD | Celia Rasga | 
| 2016 - 2018 | Big data mining for systems biology. | Hugo Martiniano | 
| 2015 - 2018 | Prevalence study of Autism Spectrum Disorder in a region of Portugal. | Célia Rasga. | 
| 2010 - 2014 | Expression profiling and population analysis of Copy Number variants in Autism Spectrum Disorder. | Ines Conceição | 
| 2010 - 2014 | Strategies for GWAS analysis: gene-centric approach, network-based analysis and CNV | Catarina Correia | 
| 2010 - 2011 | Analysis of rare variants in the Autism Genome Project dataset. | Inês Sousa. | 
| 2009 - 2010 | Autism Genome Project - Analysis of Copy Number Variants in the AGP GWAS. | Catarina Correia | 
| 2007 - 2010 | Autism Genome Project – Genetic epidemiology analysis. | Tiago Magalhães | 
| 2007 - 2008 | Autism Genome Project – Molecular genetic analysis. | Inês Cabrito. | 
| 2006 - 2008 | Regulation of serotonin and BDNF levels in autism. | Marta Barreto | 
| 2005 - 2007 | Molecular genetics of autism and other mental disorders | Madalena Martins. | 
Distinctions
            Award
| 2006 | Prémio Amélia da Silva de Mello para as Ciências da Saúde - Menção Honrosa | 
| 2006 | Menção Honrosa do Prémio Bial - Autismo em Portugal: epidemiologia, investigação genética molecular Fundação Bial, Portugal | 
| 2006 | Prémio APIFARMA para Mobilidade 2006. Associação Portuguesa da Indústria Farmacêutica, Portugal | 
| 2005 | Prémio Pfizer de Investigação Clínica | 
| 2005 | Prémio NEDAI da Sociedade Portuguesa de Medicina Interna | 
| 2000 | Prémio de Investigação Básica Sociedade Portuguesa de Diabetologia, Portugal | 
Other distinction
| 2019 | Member of the Coordination Group of the 1M Genome Initiative, in the context of the European Declaration of Cooperation "Towards access to at least 1 million sequenced genomes in the European Union by 2022”. | 
| 2018 | Elected Vice-Chair, International Consortium for Personalised Medicine International Consortium for Personalised Medicine, Belgium | 
| 2011 | President elected, Sociedade Portuguesa de Genética Humana | 
| 2007 | Elected Member, Comissão Coordenadora do Conselho Científico, Instituto Nacional de Saude Doutor Ricardo Jorge (2007-2015) | 
