Identification
Personal identification
- Full name
- Célia Márcia Azevedo Soares
Citation names
- Soares, Celia
- Celia Azevedo Soares
Author identifiers
- Ciência ID
- 8014-8739-FEA1
- ORCID iD
- 0000-0002-2907-0091
Knowledge fields
- Medical and Health Sciences - Basic Medicine
- Medical and Health Sciences - Basic Medicine - Human Genetics
- Natural sciences - Biological Sciences - Genetics and Heredity
- Natural sciences - Biological Sciences - Developmental Biology
- Medical and Health Sciences - Clinical Medicine
Languages
Language | Speaking | Reading | Writing | Listening | Peer-review |
---|---|---|---|---|---|
Portuguese (Mother tongue) | |||||
English | Advanced (C1) | Advanced (C1) | Upper intermediate (B2) | Advanced (C1) | |
French | Intermediate (B1) | Intermediate (B1) | Elementary (A2) | Elementary (A2) | |
Spanish; Castilian | Beginner (A1) | Beginner (A1) | Beginner (A1) | Elementary (A2) | Beginner (A1) |
Education
Degree | Classification | |
---|---|---|
2016 - 2018
Concluded
|
The Portugal Clinical Scholars Research Training (Postgraduate Certificate)
Major in Clinical research
Harvard Medical School, United States
|
|
2010 - 2015
Concluded
|
Visiting MD PhD (Doktor (PhD))
Major in axonal guidance, neurodevelopment
Columbia University Department of Pathology and Cell Biology, United States
|
|
2005 - 2015
Concluded
|
Medicina (Mestrado integrado)
Universidade do Minho, Portugal
|
|
2012/01/02 - 2012/04/30
Concluded
|
Professional Skills for Neuroscientists (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
|
|
2011/08/01 - 2011/12/15
Concluded
|
Ethics in Research for Neuroscientist (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
|
|
2011/01/01 - 2011/04/30
Concluded
|
Neurodevelopment Course (Postgraduate Certificate)
Columbia University Irving Medical Center, United States
|
Affiliation
Science
Category Host institution |
Employer | |
---|---|---|
2022/05 - Current | Visiting Researcher (Research) | Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal |
2017/01 - Current | Researcher (Research) | Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal |
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal | ||
2010 - 2014 | Researcher (Research) | Columbia University Irving Medical Center, United States |
Teaching in Higher Education
Category Host institution |
Employer | |
---|---|---|
2022/09 - Current | Invited Assistant Professor (University Teacher) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal | ||
2022/06 - Current | Invited Associate Professor (University Teacher) | Universidade de Aveiro, Portugal |
Universidade de Aveiro Departamento de Ciências Médicas, Portugal |
Others
Category Host institution |
Employer | |
---|---|---|
2022 - Current | Attending Physician - Medical Genetics | Centro Hospitalar Universitário do Porto EPE, Portugal |
2017 - 2022 | Medical Resident - Medical Genetics | Centro Hospitalar Universitário do Porto EPE, Portugal |
2021/10/01 - 2021/11/30 | Visiting Scholar | Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal |
2021/09/01 - 2021/09/30 | Visiting Scholar | Universität Basel, Switzerland |
2020/03/01 - 2020/03/31 | Visiting Scholar | Edward S Harkness Eye Institute, United States |
2019/04/01 - 2019/04/30 | Visiting Scholar | Hôpital universitaire Necker-Enfants malades, France |
Institut Necker-Enfants Malades, France | ||
2018/02/13 - 2018/03/17 | Visiting Scholar | Johns Hopkins Medicine, United States |
Johns Hopkins Medicine McKusick-Nathans Institute of Genetic Medicine, United States | ||
2018/01/02 - 2018/01/30 | Visiting Scholar | Laboratório de Citogenética e Genómica da Faculdade de Medicina da Universidade de Coimbra, Portugal |
Laboratório de Citogenética e Genómica da Faculdade de Medicina da Universidade de Coimbra, Portugal | ||
2008/08/01 - 2008/08/31 | Undergrad Laboratory Rotation: What are the consequences of early-life stressful experiences in rats? | Universidade do Minho, Portugal |
2008/07/01 - 2008/07/07 | Undergrad Laboratory Rotation: Constructing the Yeast Model of the Most Common Mutation in Batten Disease | Universidade do Minho, Portugal |
2008/06/01 - 2008/06/30 | Undergrad Laboratory Rotation: Characterization of the Expression of Monocarboxylate Transporters in Human Brain Tumours | Universidade do Minho, Portugal |
Projects
Grant
Designation | Funders | |
---|---|---|
2011 - 2015 | Fate of the earliest retinal ganglion cells during the development of the visual system
SFRH/BD/74926/2010
PhD Student Fellow
|
Fundação para a Ciência e a Tecnologia |
Contract
Designation | Funders | |
---|---|---|
2022 - Current | Investigating the drivers of Fanconi Anemia-associated brain malformations
2022.01964.PTDC
Co-Principal Investigator (Co-PI)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2021/01/01 - Current | Unit for Multidisciplinary Research In Biomedicine - UMIB
UIDB/00215/2020
UIDP/00215/2020
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal |
Fundação para a Ciência e a Tecnologia
Ongoing
|
2021/01/01 - 2025/12/31 | Laboratório para a Investigação Integrativa e translacional em Saúde Populacional
LA/P/0064/2020
Universidade do Porto Faculdade de Desporto, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal Universidade do Porto Instituto de Saúde Pública, Portugal Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal Universidade do Porto Centro de Investigação em Actividade Física Saúde e Lazer, Portugal |
Fundação para a Ciência e a Tecnologia
Ongoing
|
2021/01/01 - 2025/12/31 | Laboratory for Integrative and Translational Research in Population Health
LA/P/0064/2020
Universidade do Porto Faculdade de Desporto, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal Universidade do Porto Unidade de Investigação em Epidemiologia, Portugal Universidade do Porto Instituto de Saúde Pública, Portugal Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal Universidade do Porto Centro de Investigação em Actividade Física Saúde e Lazer, Portugal |
Fundação para a Ciência e a Tecnologia
Ongoing
|
2019/01/01 - 2019/12/31 | Unidade Multidisciplinar de Investigação Biomédica - UMIB
UID/Multi/00215/2019
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
Other
Designation | Funders | |
---|---|---|
2024/01 - Current | An Operationally Seamless, Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase
3 Double-Blind, Placebo-Controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects With Osteogenesis Imperfecta
NA
Investigator - Clinical Trial
|
|
2021/03 - Current | Genome instability in neural stem cells as a driver of neurodevelopmental disorders
PTDC/MED-NEU/1591/2021
Post-doc
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
|
Ongoing
|
2020/01/01 - Current | Narrativas digitais como preservação da memória - Projeto Piloto
Universidade do Porto Centro de Investigação Transdisciplinar Cultura Espaço e Memória, Portugal
|
Ongoing
|
2019 - Current | HDAC8-spectrum syndrome: a unique human rare disorder as a prototype to dissect new roles of cohesins in intellectual disability
and mitotic fidelity
PTDC/MED-GEN/1973/2020
Post-doc
Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
|
Ongoing
|
2024/06 - 2024/08 | A Phase 2, Randomized, Double-Blind, Placebo Controlled Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics,
and Pharmacokinetics of BIA 28-6156 in Subjects With Parkinson’s Disease With a Pathogenic Variant in the Glucocerebrosidase
(GBA1) Gene
NA
Researcher
|
Ongoing
|
2023/08 - 2023/10 | A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in
Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene
NA
Investigator - Clinical Trial
|
Ongoing
|
Outputs
Publications
Book chapter |
|
Conference abstract |
|
Conference poster |
|
Journal article |
|
Newsletter article |
|
Newspaper article |
|
Thesis / Dissertation |
|
Activities
Oral presentation
Presentation title | Event name Host (Event location) |
|
---|---|---|
2024/11/17 | Medical Genetics - role on the journey of the person with tuberous sclerosis | Encontro da associação portuguesa de esclerose tuberosa
(Portugal)
|
2024/06/27 | Ferramentas de Inteligência Artificial no diagnóstico e tratamento das Doenças Hereditárias do Metabolismo | CMIN Summit 2024
(Portugal)
|
2024/05/30 | Ida Mann´s pioneer interdisciplinary approach: bridging the fields of embryology, genetics, and ophthalmology | Workshop on History in Genetics
European Society of Human Genetics (Berlin, Germany)
|
2024/05/25 | Three decades in review - exploring predictors of neurodevelopment in phenylketonuria patients | 2024 Global Rare Diseases Research Symposium & The Second China Rare Diseases Research and Translational Medicine Annual Conference
Hope4Rare (Shanghai, China)
|
2024/05/13 | Navigating the complexity of DMD duplications in healthy individuals: a case of variant interpretation challenges in carrier screening | 15th international symposium on variants in the genome
HUGO (Porto, Portugal)
|
2024/04/28 | Roundtable - Designing Humanity: ethical reflections on gene editing and eugenics | Designing Humanity: ethical reflections on gene editing and eugenics
ICBAS (Portugal)
|
2024/04/23 | Deteção de doenças raras - Como contribuir para a identificação precoce? | Webinar Ordem Farmaceuticos e RD-Portugal
Ordem dos Farmaceuticos (Portugal)
|
2024/04/12 | Research for clinical fellows | Clinical fellowships
Unidade Local de Saude de Sto Antonio (Portugal)
|
2024/04/08 | Conceitos básicos em Genética Humana | Curso de Ciências Básicas da Oftalmologia
Sociedade Portuguesa de Oftalmologia (Lisboa, Portugal)
|
2024/04/04 | Para além da odisseia de diagnóstico - importância de centros de referência em Portugal | SATB2 Portugal
SATB2 Portugal (Lisboa, Portugal)
|
2023/10/28 | Inherited Retinal Dystrophies: The diagnosis you can't miss | GPRV Meeting
Portuguese Society of Ophthalmology and the Portuguese Group of Retina and Vitreous (Portugal)
|
2023/10/13 | Aconselhamento genético em diferenças da diferenciaçao sexual | Encontro de internos de Genética Médica
(Porto, Portugal)
|
2023/09/29 | Aconselhamento Genético e Rastreio de Portador - Avaliação da experiência de 4 anos do Primeiro Banco Público de Gâmetas em Portugal | Reunião Científica da Associação Portuguesa de Diagnóstico Pré-Natal
(Portugal)
|
2023/06/29 | Unraveling osteogenesis imperfecta and its differential diagnosis – monocentric retrospective cohort study of 94 patients with clinical suspicion of osteogenesis imperfecta | 4th meeting of rare bone diseases
(Portugal)
|
2023/06 | Variable phenotypic expression of the m.8993T>G pathogenic variant in a family | UK-EGG Annual Conference Edinburgh 2023
UK Eye Genetics Group (Edimburgo, United Kingdom)
|
2023/05 | CTNNB1-ASSOCIATED NEURODEVELOPMENTAL DISORDER – UM DIAGNÓSTICO DIFERENCIAL DE PARALISIA CEREBRAL QUE MELHOROU COM LEVODOPA - coautora | 17º Congresso da Sociedade Portuguesa de Neuropediatria
(Portugal)
|
2023/03 | Clinical and laboratory findings in glycogen storage disease type v: results from a retrospective observational study in a tertiary hospital - coautora | 19th International Symposium of the Portuguese Society for Metabolic Disorders
(Portugal)
|
2023/03 | Forty-three years after the start of neonatal screening in Portugal: the results of a retrospective cohort study with 113 adult PKU patients - coautora | 19th International Symposium of the Portuguese Society for Metabolic Disorders |
2022/12 | Genetic landscape of syndromic retinitis pigmentosa in Portugal - coautora | 65º Congresso Português de Oftalmologia
(Portugal)
|
2022/10/15 | Oftalmogenética - perspectiva do geneticista | Reunião do Grupo Português de Retina e Vítreo
Sociedade Portuguesa de Oftalmologia (Funchal)
|
2022/10/13 | Oftalmogenética - conceitos básicos em Genética Médica |
Novartis (Funchal, Portugal)
|
2022/10 | Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center | ESHG - Next-Generation Reproductive Medicine
(Netherlands)
|
2022/09 | Male with multiple malformations and no etiological diagnosis | Eurodysmophology
ERN-ITHACA (Spain)
|
2022/06 | ESHG Dysmorphology Club - Short stature and dysmorphism |
(Austria)
|
2022/06 | ESHG Dysmorphology Club – Losing all her senses | |
2021/10/27 | Genetic counseling of candidates for gamete donation at a public bank | World Congress on Genetic Counselling
Wellcome Genome Campus (United Kingdom)
|
2021/09/09 | Genotypic and phenotypic features of the mothers of children with mtDNA-associated Leigh syndrome | Sociedade Portuguesa de Doenças Metabólicas
(Portugal)
|
2020/12/11 | Considerações ético-legais sobre a realização de testes genéticos em menores de idade | Rerviço de Pediatria, CMIN/CHUPorto, Porto
(Portugal)
|
2020/06/17 | Genética e Oftalmologia – conceitos básicos | Serviço Oftalmologia, CHUPorto
(Portugal)
|
2020/01/30 | Female with CUL4B-related phenotype | Workshop on genetics of neurological disorders
MINDDS e CGMJM/CHUPorto (Portugal)
|
2019/11/22 | Young Geneticists Network | ERN-ITHACA Board meeting
ERN-ITHACA (Dusseldorf, Germany)
|
2019 | Agénésie de la vésicule bilier et du pancréas | Fetal Pathology Grand Rounds
(Paris, France)
|
2019 | Tubulinopathies - a review | Fetal Pathology Grand Rounds
(Paris, France)
|
2019 | Early neurodevelopmental milestones acquisition in fragile X syndrome: a caregiver’s online report | 4th International Conference on Fragile-X Syndrome
(Sintra, Portugal)
|
2018 | From the raw clinical data to the genetic diagnosis: a medical approach | UMIB monthly talks
Unit for Multidisciplinary Research in Biomedicine. (Porto, Portugal)
|
2018 | Epidemiologia Genética - oportunidades para a Saúde Pública | X National Meeting of Public Health residents
(Guimarães, Portugal)
|
2018 | Clinical Genetics: a perspective from Portugal | Genetics Grand Rounds
John Hopkins Medicine (Baltimore, United States)
|
2018 | A Portuguese boy with progressive skeletal dysplasia and normal intelligence | 17th International Postgraduate Course on Lysosomal Storage Disorders
(Nierstein, Germany)
|
2015 | Fate of the first-born retinal ganglion cells after growing to the brain | European MD/PhD Association Conference
European MD/PhD Association (Netherlands)
|
Event organisation
Event name Type of event (Role) |
Institution / Organization | |
---|---|---|
2024/06/02 - 2024/06/02 | Workshop - Prenatal reporting of carrier status (2024/06/02 - 2024/06/02)
Workshop (Member of the Organising Committee)
|
European Society of Human Genetics, Austria |
2024/04/26 - 2024/04/26 | Workshop - Diagnostic challenges em rare diseases (2024/04/26 - 2024/04/26)
Workshop (Co-organisor)
|
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2021/08/30 - 2021/08/30 | Chair of Educational Session at European Society of Human Genetics Annual Meeting. Topic: Human organoids as genetic disease
models (2021/08/28 - 2021/08/31)
Conference (Co-organisor)
|
|
2020/06/07 - 2020/06/07 | Workshop organization at the European Society of Human Genetics Annual Conference, about Professional Skills for the next
generation of human geneticists (2020/06/06 - 2020/06/09)
Conference (Co-organisor)
|
European Society of Human Genetics, Austria |
2015 - 2015 | 4th Meeting of the Portuguese Graduates Abroad (2015 - 2015)
Meeting (Member of the Organising Committee)
|
|
2010 - 2010 | Minho Medical Students Association 1st Science and Technology Meeting – Nanotechnology (2010 - 2010)
Conference (President of the Organising Committee)
|
Event participation
Activity description Type of event |
Event name Institution / Organization |
|
---|---|---|
2024/11/27 - 2024/11/29 | Annual Board Meeting - MetabERN - Budapest
Meeting
|
|
2024/09/27 - 2024/09/28 | 12º Congresso Português de Doenças Neuromusculares
Conference
|
|
2024/07/19 - 2024/07/19 | I Encontro Nacional sobre Prescrição Cultural
Congress
|
I Encontro Nacional sobre Prescrição Cultural |
2024/07/15 - 2024/07/15 | Case-based learning methodology
Workshop
|
|
2024/06/01 - 2024/06/04 | European Society of Human Genetics 2024
Conference
|
|
2024/05 - 2024/05 | ISV2024 - HUGO meeting
Conference
|
ISV2024 - HUGO meeting |
2024/05 - 2024/05 | Workshop in the History of Genetics
Workshop
|
European Society of Human Genetics, Austria
|
2024/04/04 - 2024/04/05 | EuroNDD 2024
Conference
|
EuroNDD 2024
ERN-ITHACA, France
|
2024/03/13 - 2024/03/15 | Strategies to foster solutions of undiagnosed RD cases
Workshop
|
EJP RD Training on "Strategies to foster solutions of undiagnosed RD cases"
Istituto Superiore di Sanità, Italy
|
2024/02/01 - 2024/02/01 | Workshop - Ciência de Dados na Saúde
Workshop
|
Centro Hospitalar Universitário do Porto EPE, Portugal
|
2023/09 - 2023/12 | Digital Storytelling Course
Workshop
|
Ludwig-Maximilians-Universitat Munchen Center for International Health, Germany
|
2023/11/23 - 2023/11/25 | 27º reunião anual da Sociedade Portuguesa de Genética Humana
Meeting
|
|
2023/11/17 - 2023/11/17 | 3rd Symposium of the National Research Infrastructure for Genome Sequencing and Analysis - GenomePT Symposium 2023
Meeting
|
|
2023/11/17 - 2023/11/17 | EUGLOH Alliance - Popular Science Lectures: Immersive Learning
Workshop
|
Popular Science Lectures: Immersive Learning
Universidade do Porto, Portugal
|
2023/09/28 - 2023/09/29 | FAIRification of Data
Workshop
|
FAIRification of Data
European Joint Programme on Rare Diseases, France
|
2023/09/22 - 2023/09/22 | O Ensino da Medicina em Mudança
Conference
|
O Ensino da Medicina em Mudança
Universidade NOVA de Lisboa, Portugal
|
2023/07/21 - 2023/07/23 | 6th World Conference on CDG
Conference
|
6th World Conference on CDG
Universidade NOVA de Lisboa Faculdade de Ciências e Tecnologia, Portugal
|
2023/06/10 - 2023/06/13 | European Society of Human Genetics 2023
Meeting
|
European Society of Human Genetics, Austria
|
2023/06/09 - 2023/06/09 | UK-EGG Annual Conference Edinburgh 2023
Meeting
|
UK-EGG Annual Conference Edinburgh 2023
UK Eye Genetics Group, United Kingdom
|
2023/05/20 - 2023/05/20 | 20th meeting of the Portuguese Society of Neurofibromatosis
Meeting
|
Portuguese Society of Neurofibromatosis, Portugal
|
2023/05/06 - 2023/05/06 | First Fanconi Anemia meeting in Portugal
Meeting
|
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
2023/04/24 - 2023/04/25 | SSIEM Academy 2023
Workshop
|
Society for the Study of Inborn Errors of Metabolism, United Kingdom
|
2023/04/20 - 2023/04/21 | EuroNDD Workshop
Workshop
|
ERN-ITHACA, France
|
2023/03 - 2023/04 | Course - Data Visualization and Data Storytelling
Workshop
|
Universidade do Porto Faculdade de Letras, Portugal
|
2023/03/30 - 2023/03/31 | Precaridade no contexto académico
Round table
|
Universidade do Porto Faculdade de Letras, Portugal
|
2022/11/30 - 2022/11/30 | Fórum Medicina de Precisão em Oncologia
Conference
|
Universidade do Porto Faculdade de Medicina, Portugal
|
2022/11 - 2022/11 | Course - Health and Science Communication
Workshop
|
Universidade do Porto Faculdade de Letras, Portugal
|
2022/07/18 - 2022/07/28 | Virtual McKusick Short Course
Symposium
|
Virtual McKusick Short Course
The Jackson Laboratory, United States
|
2022/06/27 - 2022/06/28 | SSIEM Academy 2022
Workshop
|
SSIEM Academy 2022
Society for Inherited Metabolic Disorders, United States
|
2022/06/06 - 2022/06/06 | De que Forma o Regulamento Geral de Proteção de Dados (RGPD) impactou a Investigação Genómica? O Caso Português
Seminar
|
Universidade de Lisboa Instituto de Medicina Preventiva e Saúde Pública, Portugal
|
2021/10 - 2022/02 | Introduction to Global Health - European University Alliance for Global Health (Postgraduate Certificate)
Other
|
Ludwig-Maximilians-Universitat Munchen Center for International Health, Germany
|
2021/10/02 - 2021/10/06 | Fifth ESHG Training Course on Cardiogenetics
Workshop
|
Fifth ESHG Training Course on Cardiogenetics
European Society of Human Genetics, Austria
|
2021/09/30 - 2021/10/01 | Curso Neurología Pediátrica Campus Valld’Hebron . Terapias emergentes
Workshop
|
Curso Neurología Pediátrica Campus Valld’Hebron . Terapias emergentes
Vall d¿Hebron Hospital Universitari, Spain
|
2021/09/23 - 2021/09/24 | ESHG Course on Hereditary Cancer
Workshop
|
ESHG Digital Course on Hereditary Cancer
European Society of Human Genetics, Austria
|
2021/09/08 - 2021/09/10 | 17th International Symposium pf the Portuguese Society of Metabolic Disorders
Symposium
|
17th I N T E R N A T I O N A L S Y M P O S I U M O F T H E P O R T U G U E S E S O C I E T Y F O R M E T A
B O L I C D I S O R D E R S
Sociedade Portuguesa de Doenças Metabólicas, Portugal
|
2021/07/31 - 2021/08/01 | 5th European Aniridia Conference
Conference
|
5th European Aniridia Conference
Moorfields Eye Hospital NHS Foundation Trust, United Kingdom
|
2021/05/15 - 2021/05/15 | 22º Curso de Formação Pós-Graduada em Neuropediatria – Doenças Metabólicas
Workshop
|
Sociedade Portuguesa de Neuropediatria, Portugal
|
2021/05/06 - 2021/05/11 | 33rd Course on Clinical Genomics and NGS
Workshop
|
33rd Course on Clinical Genomics and NGS
European Society of Human Genetics, Austria
|
2021/03/21 - 2021/03/23 | Comunicação Clínica para Médicos
Workshop
|
Centro Hospitalar Universitário do Porto EPE, Portugal
|
2021/02/12 - 2021/02/12 | 20º Curso de Formação Pós-Graduada em Neuropediatria - Neuro-Oftalmologia Pediátrica
Workshop
|
Sociedade Portuguesa de Neuropediatria, Portugal
|
2021 - 2021 | SEA-IEM 2ND South European Academy Nutrition Education of IEM
Workshop
|
SEA-IEM 2ND South European Academy Nutrition Education of IEM
South European Academy Nutrition Education of IEM, Italy
|
2020/11/30 - 2020/12/02 | Mitochondrial Medicine 2020
Conference
|
Welcome Genome Campus Advanced Courses and Scientific Conferences, United Kingdom
|
2020/11/27 - 2020/11/27 | Kick-off symposium of the RARE-MED consortium
Symposium
|
Universiteit Gent, Belgium
|
2020/11/20 - 2020/11/20 | 24ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
|
Sociedade Portuguesa de Genética Humana, Portugal
|
2020/11/06 - 2020/11/06 | VIII Reunião de Neurogenética "Doenças Mitocondriais: e quando a energia falha?"
Conference
|
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
|
2020/10/05 - 2020/10/05 | Inherited Gastrointestinal Cancers and Genetic Testing
Conference
|
Columbia University Vagelos College of Physicians and Surgeons, United States
|
2020/06/06 - 2020/06/09 | European Human Genetics Conference 2020
Conference
|
European Society of Human Genetics, Austria
|
2020/04/21 - 2020/04/21 | Genetic Testing for Inherited Retinal Diseases
Symposium
|
Canadian National Institute for the Blind
CNIB, Canada
|
2020/01/31 - 2020/01/31 | XLVIII Conferências de Genética Doutor Jacinto Magalhães
Conference
|
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
|
2020/01/30 - 2020/01/30 | Workshop on genetics of neurological disorders - MINDDS COST Network
Workshop
|
|
2020 - 2020 | A003- Understanding and Addressing Vision Loss
Other
|
Lighthouse Guild, United States
|
2019/11/22 - 2019/11/22 | ERN-ITHACA board meeting
Meeting
|
ERN-ITHACA, France
|
2019/11/14 - 2019/11/16 | 23ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
|
Sociedade Portuguesa de Genética Humana, Portugal
|
2019/10/23 - 2019/10/25 | Quality assurance, variant interpretation and data management in the NGS diagnostics era
Workshop
|
European Joint Programme for Rare Diseases, Belgium
|
2019/10/12 - 2019/10/13 | 4th International Conference on Fragile-X Syndrome
Conference
|
APSXF - Associação Portuguesa da Síndrome do X-Frágil, Portugal
|
2019/09/22 - 2019/09/24 | 6th Course in Eye Genetics
Workshop
|
European Society of Human Genetics, Austria
|
2019/09/03 - 2019/09/06 | SSIEM Annual Symposium 2019
Conference
|
Society for the Study of Inborn Errors of Metabolism, United Kingdom
|
2019/06/15 - 2019/06/18 | European Human Genetics Conference 2019
Conference
|
European Society of Human Genetics, Austria
|
2019/04/18 - 2019/04/18 | 3eme jeudi – Fragilités Osseuses Constitutionnelles
Conference
|
L’Association Francophone de Génétique Clinique, France
|
2019/03/16 - 2019/03/16 | Managing PKU During Life
Conference
|
Sociedade Portuguesa de Doenças Metabólicas, Portugal
|
2019/03/14 - 2019/03/16 | 15º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas
Conference
|
Sociedade Portuguesa de Doenças Metabólicas, Portugal
|
2019 - 2019 | Non-Invasive Prenatal Testing (NIPT): An Introduction for Healthcare Professionals
Other
|
St. George´s, University of London, United Kingdom
|
2019 - 2019 | Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing
Other
|
St. George´s, University of London, United Kingdom
|
2019 - 2019 | Clinical Bioinformatics: Unlocking Genomics in Healthcare
Workshop
|
The University of Manchester School of Health Sciences, United Kingdom
|
2018/11/30 - 2018/12/01 | Del genoma a la medicina de precisión en los trastornos del movimento
Conference
|
Vall d¿Hebron Hospital Universitari, Spain
|
2018/05/30 - 2018/06/02 | 17th International Postgraduate Course on Lysosomal Storage Disorders
Workshop
|
Universitätsmedizin der Johannes Gutenberg-Universität Mainz III Medizinische Klinik und Poliklinik, Germany
|
2018/05 - 2018/05 | XLVII Conferências de Genética Dr. Jacinto Magalhães – Genética na Endocrinologia e Metabolismo
Conference
|
Centro Hospitalar Universitário do Porto EPE Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
|
2018 - 2018 | 22ª Reunião Anual da Sociedade Portuguesa de Genética Humana
Conference
|
Sociedade Portuguesa de Genética Humana, Portugal
|
Jury of academic degree
Topic Role |
Candidate name (Type of degree) Institution / Organization |
|
---|---|---|
2024/06/19 | TRPV4 skeletal disorders: assessment of phenotypic spectrum and impact on quality of life of Portuguese patients
(Thesis) Main arguer
|
Ana Sofia Martins Correia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
Association member
Society Organization name | Role | |
---|---|---|
2019 - Current | European Society of Human Genetics - Young Board | Elected Board Member |
2017 - Current | Sociedade Portuguesa de Genética Humana | Member |
2012 - Current | Alumni Medicina – Núcleo de Antigos Estudantes de Medicina da Universidade do Minho | Sócia benemérita |
2015 - 2018 | European MD/PhD Association | Representative |
2015 - 2016 | Portuguese American Post-graduate Society | Alumni Chapter Leader |
2012 - 2013 | Society for Neuroscience | Member |
Committee member
Activity description Role |
Institution / Organization | |
---|---|---|
2024/06 - Current | MetabERN | |
2024/06 - Current | ERN-NMD | |
2023/01 - Current | SATB2 scientific consortium
Member
|
|
2022/02 - Current | Scientific board member - RD Portugal - União de Associações de doenças raras
Advisor / Consultant
|
|
2021/02/01 - 2025/02/01 | European Society of Human Genetics Education Committee
Member
|
European Society of Human Genetics, Austria |
2019/06 - 2021/08 | European Society of Human Genetics Young Committee - founder member
Member
|
European Society of Human Genetics, Austria |
Course / Discipline taught
Academic session | Degree Subject (Type) | Institution / Organization | |
---|---|---|---|
2024/09 - Current | Chair - CIÊNCIAS SOCIAIS, HUMANIDADES, ARTE E INVESTIGAÇÃO I | Medicine (Mestrado integrado) | Universidade de Aveiro, Portugal |
2023 - Current | Genética Médica | Medicina (Mestrado integrado) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2023 - Current | Genética Médica | Aconselhamento Genético (Mestrado integrado) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2023 - Current | Genética Médica | Bioquímica (Mestrado integrado) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2022 - Current | Citogenética Animal | Medicina Veterinária (Licenciatura) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2020 - Current | Genómica na Medicina- opcional | Medicina (Mestrado integrado) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2019 - Current | Introdução à Medicina | Medicina (Mestrado integrado) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2024/11/15 - 2024/12/13 | 6º curso em Genética Clinica e Laboratorial | (Outros) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
2024/10/11 - 2024/10/11 | Neural Development - postgraduate education in Neuroscience | Neuroscience (Postgraduate Certificate) | Szegedi Tudományegyetem, Hungary |
2024/09/22 - 2024/09/22 | Bootcamp - simplifying complex themes - how to prepare for a medical genetics appointment | (Outros) | |
2023/12/13 - 2023/12/13 | Formação Centro Clinico Académico - Medicina Genómica | (Outros) | Universidade de Aveiro, Portugal |
Evaluation committee
Activity description Role |
Institution / Organization | Funding entity | |
---|---|---|---|
2024/06 - Current | ERN-NMD | ||
2023/02 - 2023/06 | European Reference Networks Assessments
Evaluator
|
Interview (newspaper / magazine)
Activity description | Newspaper / Forum | |
---|---|---|
2024/02/11 | PN Reads - International Day of Women and Girls in Science 2024 | PN Reads |
Interview (tv / radio show)
Program | Topic | |
---|---|---|
2022/04/08 - Current | Genetic Sounds | Let's talk about access to genetic services |
2024/09/23 - 2024/09/23 | Neurotalks - podcast | Clinical Research |
2021 - 2021 | Medicopatias | A especialidade de Genética Médica |
Journal scientific committee
Journal title (ISSN) | Publisher | |
---|---|---|
2024 - Current | Egyptian Journal of Medical Human Genetics |
Mentoring / Tutoring
Topic | Student name | |
---|---|---|
2023/09 - 2024/06 | Professionalizing rotation | Diogo Nogueira |
2023/01 - 2023/03 | Estágio opcional Genética Médica | Rita Quental |
2022/05 - 2022/06 | Estágio opcional Genética Médica | Marta Antunes |
2013 - 2013 | BRAINYAC Program (Brain Research Apprenticeships In New York At Columbia), | Dinardo Rodriguez |
Distinctions
Award
2024 | Best poster presentation - A HEALTHY FEMALE WITH A DMD DUPLICATION IN CARRIER SCREENING - CHALLENGES IN VARIANT INTERPRETATION
AND CLINICAL MANAGEMENT
Sociedade Portuguesa de Estudos de Doenças Neuromusculares, Portugal
|
2024 | Best scientific publication in translational medicine - ULS coimbra
Unidade Local de Saúde de Coimbra, Portugal
|
2023 | Prémio Pediatria - TRATAMENTO COM BIFOSFONATOS NA OSTEOGÊNESE IMPERFEITA
Pfizer AG, Switzerland
|
2022 | Menção honrosa - Partial ornithine transcarbamylase deficiency in three generations with variable phenotype in males
Sociedade Portuguesa de Doenças Metabólicas, Portugal
|
2021 | Menção honrosa - Genotypic and phenotypic features of the mothers of children with mtDNA-associated Leigh syndrome
Sociedade Portuguesa de Doenças Metabólicas, Portugal
|
2020 | Best oral communication - 2nd place (co-author)
Centro Hospitalar Universitário Lisboa Norte EPE, Portugal
|
Other distinction
2021 | Annual conference fellowship - ESHG 2021
European Society of Human Genetics, Austria
|
2021 | Course fellowship - 5thTraining Course on Cardiogenetics
European Society of Human Genetics, Austria
|
2019 | Course fellowship - 6TH COURSE IN EYE GENETICS
European Society of Human Genetics, Austria
|