Identification
Personal identification
- Full name
- Isabel Alexandra Azevedo Silveira
Citation names
- Silveira, Isabel
Author identifiers
- Ciência ID
- 3118-E8FC-73CD
- ORCID iD
- 0000-0002-2610-5260
Email addresses
- isilveir@ibmc.up.pt (Professional)
Telephones
- Telephone
-
- 226074928 (Professional)
- 220408800 Ext.: 6167 (Professional)
Addresses
- IBMC. Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Professional)
Websites
- https://www.i3s.up.pt/research-group.php?groupid=24 (Professional)
- https://orcid.org/0000-0002-2610-5260 (Professional)
- https://www.scopus.com/authid/detail.uri?authorId=7003305109 (Professional)
Knowledge fields
- Medical and Health Sciences - Basic Medicine - Human Genetics
- Medical and Health Sciences - Basic Medicine - Neurosciences
- Natural sciences - Biological Sciences - Molecular Biology
- Natural sciences - Biological Sciences - Genetics and Heredity
- Natural sciences - Biological Sciences - Developmental Biology
Languages
Language | Speaking | Reading | Writing | Listening | Peer-review |
---|---|---|---|---|---|
English | Advanced (C1) | Advanced (C1) | Advanced (C1) | Advanced (C1) | |
French | Advanced (C1) | Advanced (C1) | Advanced (C1) | Advanced (C1) |
Education
Degree | Classification | |
---|---|---|
2004/07 - 2004/07
Concluded
|
Course in Laboratory Animals (Outros)
Major in FELASA C Category Course
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
|
Aprovada |
1997
Concluded
|
Ciências Biomédicas (Doutoramento)
Major in Genética Humana
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Mapeamento Cromossómico da Doença de Machado-Joseph e Heterogeneidade Genética das Ataxias Dominantes" (THESIS/DISSERTATION)
|
Com Louvor Por Unanimidade |
1992
Concluded
|
Maitrise in Molecular and Cell Biology (Pós-Graduação)
Université Paris Descartes, France
|
Aprovada |
1990
Concluded
|
Ciências Farmacêuticas (Licenciatura)
Universidade do Porto Faculdade de Farmácia, Portugal
"Patologias do Eritrócito" (THESIS/DISSERTATION)
|
Aprovada |
Affiliation
Science
Category Host institution |
Employer | |
---|---|---|
1999/04/01 - 2012/05/31 | Auxiliary Researcher (Research) | Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
Teaching in Higher Education
Category Host institution |
Employer | |
---|---|---|
2003/12/01 - 2007/04/30 | Assistant Professor (University Teacher) | Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal |
Others
Category Host institution |
Employer | |
---|---|---|
2014/01/01 - Current | Group Leader | Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal |
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal | ||
2013/10/01 - Current | Teacher at the PhD Program Molecular and Cell Biology, ICBAS, FCUP, IBMC | Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
2012/06/01 - Current | Group Leader | Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
1997/12/06 - 1999/03/31 | Postdoctoral Fellow | Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
1993/11/01 - 1996/05/31 | PhD student | McGill Centre for Research in Neuroscience, Canada |
McGill Centre for Research in Neuroscience, Canada | ||
1991/09/01 - 1993/10/31 | PhD student | Hôpital universitaire Necker-Enfants malades, France |
Université Paris Descartes Faculté de Médecine Site Necker, France | ||
1989/12/20 - 1990/07/31 | Trainee | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
Projects
Grant
Designation | Funders | |
---|---|---|
2022/01/01 - 2024/02/29 | PhasAGE – Excellence Hub on Phase Transitions in Aging and Age-Related Disorders
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
|
2018/07/01 - 2022/06/30 | Pathogenic Mechanisms and Therapy in a Repeat Disease Caused by a Noncoding Mutation in the DAB1 Gene
FCT, PTDC/MED-GEN/29255/2017.
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2016/05/01 - 2019/12/31 | Program in Neurosciences and Neurologic Disease Research Initiative at i3S- WP7. Investigate RNA-mediated pathogenic pathways
in neurodegeneration
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
|
2013/06 - 2015/05 | Neurodegenerative Disorders. WP Investigating Hereditary Ataxias
NORTE-07-0124-FEDER-000001
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
|
2010/06 - 2013/11 | Cognition and synaptic function in calcium channel disease
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2010/04 - 2013/09 | Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2009/03 - 2012/12 | Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento
ou cognitivas
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2005/04 - 2008/12 | Molecular Genetics of Autosomal Dominant Neurodegenerative Diseases Characterized mainly by Ataxia
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2001/09/01 - 2004/08/31 | Genetic Study of Migraine
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2001/09/01 - 2004/08/31 | Genetics and Pathogenic Mechanisms of Dominant Ataxias
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
1999/03/01 - 2001/02/01 | Genetics of Dominant Ataxias and Hereditary Spastic Paraplegia
FCT, PRAXIS/SAU/13226/1998
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
Fundação para a Ciência e a Tecnologia
Concluded
|
Outputs
Publications
Book chapter |
|
Journal article |
|
Activities
Oral presentation
Presentation title | Event name Host (Event location) |
|
---|---|---|
2023/10/18 | Understanding the Role of the Non-coding Genome in Neurodegenerative Diseases | III PhasAGE International Conference, Porto
III PhasAGEage International Conference, Porto (Porto, Portugal)
|
2023/06/20 | Genetics of Cognitive Dysfunction Group Main Findings and Objectives | Kick-Off Meeting of the NCBio
i3S, University of Porto (Porto, Portugal)
|
2022/09/24 | Genetics of Spinocerebellar Ataxias and Challenges for Treatment (Invited Talk) | I National Conference in Ataxias, APAHE, Portugal
Portuguese Associatian of Hereditary Ataxias, APAHE, Portugal (Coimbra, Portugal)
|
2022/05/28 | Emerging Pentanucleotide Related Disorder: the SCA37 model (Invited Talk) | International Workshop on Familial Adult Myoclonic Epilepsy
FAME/BAFME Italian Consortium (Naples, Italy)
|
2022/03/25 | 30 Years of Spinocerebellar Ataxia Genetics and Challenges for Treatment (Invited Talk) | National Conferences in Biomedical Sciences,
University of Algarve (Faro, Portugal)
|
2021/10/07 | Unraveling Neurodegenerative Disease Molecular Mechanisms and the Mysteries of the Human Genome | i3S Group Leaders Seminars
i3S-University of Porto (Porto, Portugal)
|
2019/11/29 | A Non-coding Repeat Insertion and Neurodegenerative Disease (Invited Talk) | 8th i3S Annual Meeting
8th i3S Annual Meeting (Póvoa de Varzim, Portugal)
|
2019/09/21 | A noncoding repeat insertion causes spinocerebellar ataxia type 37 (Invited Talk) | Spatax- 6th International Meeting on Spastic Paraparesis and Ataxia, September 20 and 21st
Spatax meeting organizing committee (Nice, France)
|
2019/05/16 | The birth of pathogenic repeat insertions and human disease (i3S Seminar) | Neurobiology and Neurologic diseases Seminars
Program in Neurobiology and Neurologic Diseases (Porto, Portugal)
|
2018/06/29 | Another Repeat Insertion Causing Ataxia (Invited Talk) | II SCA36 International Symposium, Cabana de Bergantiños
Sercizo Galego de Saúde (Cabana de Bergantinos, Galiza, Spain)
|
2018/06/18 | Non-coding repeat Insertion in Human Disease (Invited Talk) | Annual Meeting of the European Society of Human Genetics (ESHG), Milan, Italy
European Society of Human Genetics (Milan, Italy)
|
2018/03/22 | A non-coding repeat insertion in DAB1 causes the neurodegenerative disease SCA37 (Invited Talk) | Portugaliae Genetica
i3S, University of Porto (Porto, Portugal)
|
2017/11/23 | A Pentanucleotide Repeat Insertion in the Non-coding region of DAB1 causes Spinocerebellar Ataxia type 37 (i3S Talk) | Seminars in Neurobiology and Neurological Diseases
i3S, University of Porto (porto)
|
2016/07/14 | (Un) Translated Repeat Expansions Causing Neurodegeneration (i3S Talk) | Seminars in Neurobiology and Neurologic Diseases
i3S, University of Porto (Porto, Portugal)
|
Supervision
Thesis Title Role |
Degree Subject (Type) Institution / Organization |
|
---|---|---|
2021/12/01 - Current | Molecular Mechanisms and Therapy in Neurodegenerative Pentanucleotide Repeat Diseases
Supervisor of Ana Sofia Tavares Figueiredo
|
Biologia Molecular e Celular (PhD)
Universidade do Porto, Portugal
|
2020/01/02 - Current | Antisense Expression of the Repeat Insertion in Spinocerebellar ataxia type 37 and Implications for Therapy
Supervisor of Ana Filipa Azevedo Castro
|
Biologia Molecular e Celular (PhD)
Universidade do Porto, Portugal
|
2023/09/05 - 2024/11/30 | Behavioural Changes in a Zebrafish Model of Spinocerebellar Ataxia Type 37
Supervisor of Nadine Almeida Peixoto
|
Molecular Genetics (Master)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
|
2020/09 - 2022/01/21 | Investigation of Non-AUG Dependent Pentanucleotide Repeat Translation in SCA37
Supervisor
|
Master in Molecular Biomedicine (Master)
Universidade de Aveiro, Portugal
|
2020/09 - 2021/11/25 | Brain Expression of the DAB1 Repeat Region Causing SCA37
Supervisor of Catarina Silva Viegas
|
Master in Neurobiology (Master)
Universidade do Porto, Portugal
|
2019/09 - 2021/01/12 | Relevance of epigenetics in the pathogenic mechanism of SCA37
Supervisor of Ana Sofia Tavares Figueiredo
|
Mestrado em genética Molecular e Biomedicina (Master)
Universidade Nova de Lisboa, Portugal
|
2018/09/10 - 2020/09/23 | Role of Repeat Instability and Somatic Mosaicism in the Neurodegenerative Disease SCA37
Supervisor of Rita Ratola
|
Bioquímica para a Saúde (Master)
Universidade Nova de Lisboa, Portugal
|
2013/10/01 - 2019/02/21 | Non-coding Repeat Insertion and RNA-mediated Neurodegeneration
Supervisor of Joana Maria Geraldes da Rocha Loureiro
|
Ciências Biológicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
2017/09 - 2018/11 | Antisense Expression Across the Repeat Insertion in DAB1 and Relevance for the Pathogenic Mechanism of SCA37
Supervisor of Ana Filipa Azevedo Castro
|
Mestrado Biologia Celular e Molecular (Master)
Universidade do Porto Faculdade de Ciências, Portugal
|
2011/12 - 2012/12 | Cognition and synaptic function in calcium channel disease
Supervisor
|
Postdoctoral (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
2011/01 - 2012/04 | Mapping and Identification of new genes in autosomal dominant spinocerebellar ataxia
Supervisor of Ana Isabel Barreira Seixas
|
Postdoctoral (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
|
2004/06/01 - 2010/12/03 | Movement disorders caused by triplet repeat expansions: genetics and pathogenic mechanisms.
Supervisor of Ana Isabel Barreira Seixas
|
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
2000/09/01 - 2006/12/05 | Molecular Characterization and Pathogenic Mechanism Involved in Dominant Ataxias
Supervisor of Isabel da Conceição Moreira Pereira Alonso
|
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
2000/01/02 - 2006/02/17 | Molecular Genetics and Pathogenetic Mechanism of Hereditary Spastic Paraplegias
Supervisor of Maria de Fátima de Oliveira Ferreirinha,
|
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
|
Event organisation
Event name Type of event (Role) |
Institution / Organization | |
---|---|---|
2006/07 - 2012/07 | Science and Society. Receiving high school students during a summer week, from the program Health School, Junior University,
University of Porto. (2006/07 - 2012/07)
Workshop (Co-organisor)
|
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
Association member
Society Organization name | Role | |
---|---|---|
2013/01/02 - Current | Society for Neuroscience, USA | Member |
2000/01/02 - Current | European Society of Human Genetics | Member |
1994/01/01 - Current | American Society of Human Genetics, USA | Member |
Committee member
Activity description Role |
Institution / Organization | |
---|---|---|
2019/06/01 - Current | Committee for Ethical and Responsible Conduct of Research
Member
|
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal |
2013/04/01 - 2015/07/01 | Human Ethics Committee IBMC.INEB
President / Vice-president
|
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
2011/07/01 - 2014/04/01 | IBMC Executive Committee
Member
|
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
Evaluation committee
Activity description Role |
Institution / Organization | Funding entity | |
---|---|---|---|
2021/03/15 - 2021/04/10 | External Grant Reviewer, National Science Center, Poland
Evaluator
|
Poland National Science Center, Poland | Poland National Science Center |
2020/03/04 - 2020/03/20 | External Reviewer, Research Grants Council, Hong Kong
Evaluator
|
Research Grants Council, Hong Kong SAR China | Research Grants Council |
2019/02/09 - 2019/02/20 | External Reviewer, Research Grants Council, Hong Kong
Evaluator
|
Research Grants Council, Hong Kong SAR China | Research Grants Council |
2018/06/30 - 2018/07/31 | External Grant Reviewer, Medical Research Council, United Kingdom
Evaluator
|
Medical Research Council, United Kingdom | Medical Research Council |
2016/03/01 - 2016/03/30 | External Grant Reviewer, National Science Center, Poland
Evaluator
|
Poland National Science Center, Poland | Poland National Science Center |
2013/09/30 - 2015/04/30 | Evaluation Panel Member of Individual applications for PhD scholarships, FCT (Fundação para a Ciência e Tecnologia), Portugal
Evaluator
|
Fundação para a Ciência e a Tecnologia, Portugal | Fundação para a Ciência e a Tecnologia |
2012/04/01 - 2012/06/30 | External Grant Reviewer Telethon, Italy
Evaluator
|
Fondazione Telethon, Italy | Fondazione Telethon |
2009/04/01 - 2009/06/30 | External Grant Reviewer Telethon, italy
Evaluator
|
Fondazione Telethon, Italy | Fondazione Telethon |
Journal scientific committee
Journal title (ISSN) | Publisher | |
---|---|---|
2021/03/25 - Current | Cells (2073-4409) | MDPI |
Distinctions
Other distinction
2004 | 2º Prémio Tecnifar de Cefaleias |
2003 | Prémio Tecnifar de Cefaleias |
2000 | Prémio Tecnifar/Sociedade Portuguesa de Cefaleias |
1997 | Menção Honrosa, prémio Jacinto de Magalhães |