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Identification

Personal identification

Full name
Joana Maria Geraldes da Rocha Loureiro

Citation names

  • Loureiro, Joana R

Author identifiers

Ciência ID
8C17-6075-324E
ORCID iD
0000-0002-3890-852X
Scopus Author Id
57150392700

Addresses

  • Instituto de Investigação e Inovação em Saúde (I3s), Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Natural sciences - Biological Sciences - Molecular Biology
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Cell Biology

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
Portuguese (Mother tongue)
Education
Degree Classification
2020/09/07 - 2020/09/18
Concluded
 Felasa Category C Laboratory Animal Science (Functions A, B and D) (Outros)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2013/11 - 2019/02
Concluded
 Doctoral Program in Molecular and Cell Biology (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Universidade do Porto Faculdade de Ciências, Portugal
"Repeat Insertion and RNA-mediated Neurodegeneration" (THESIS/DISSERTATION)
2008/09 - 2010/12
Concluded
 Biologia Molecular e Genética (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
"Síndrome de X-frágil em Portugal: caracterização molecular por SNPs e STRs [Fragile X syndrome in Portugal: molecular characterization by SNPs and STRs]" (THESIS/DISSERTATION)
2005/09 - 2008/09
Concluded
 Biologia (Licenciatura)
Major in Molecular Biology and Genetics
Universidade de Lisboa Faculdade de Ciências, Portugal
Affiliation

Science

Category
Host institution 		Employer
2022/08/16 - Current Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2022/02/16 - 2022/08/15 Postdoc (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/05 - 2021/10/31 Postdoc (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2016/01 - 2016/12 Visiting Researcher (Research) Deutsches Zentrum für Neurodegenerative Erkrankungen, Germany
Deutsches Zentrum für Neurodegenerative Erkrankungen, Germany

Others

Category
Host institution 		Employer
2022/09 - 2022/12 Maternity leave Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2011/09 - 2019/04 Research fellow Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2013/09 - 2019/02 PhD student Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
(...)
2009/10 - 2010/12 MSc Student Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
Universidade de Lisboa Faculdade de Ciências, Portugal
Projects

Grant

Designation Funders
2021/12/23 - Current PhasAGE – Excellence Hub on Phase Transitions in Aging and Age-Related Disorders
952334
Post-doc
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Università degli Studi di Padova, Italy

Universitat Autònoma de Barcelona, Spain

Vlaams Instituut voor Biotechnologie, Belgium
Horizon 2020
Ongoing
2019/05/02 - 2021/10/31 Pathogenic Mechanisms and Therapy in a Repeat Disease Caused by a Noncoding Mutation in the DAB1 Gene
POCI-01-0145-FEDER-029255
Post-doc Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
FEDER - Fundo Europeu de Desenvolvimento Regional

COMPETE 2020

Portugal 2020

Fundação para a Ciência e a Tecnologia
Ongoing
2016/05/01 - 2019/04/30 Porto Neurosciences and Neurologic Disease Research Initiative at i3S
NORTE-01-0145-FEDER-000008
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Instituto Nacional de Engenharia Biomédica, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2014/10/01 - 2014/12/31 Neurodegenerative Disorders
NORTE-01- 0124-FEDER-000001
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2012/09/01 - 2013/09/30 Mapping and identification of new genes in autosomal dominant spinocerebellar ataxias
PTDC/SAU-GMG/098305/2008
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2011/09/01 - 2012/08/31 Clinical Implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PIC/IC/82897/2007
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2019 - 2023/04 COST Action 17103 - Delivery of Antisense RNA Therapeutics
CA17103
Other
European Cooperation in Science and Technology
Ongoing
2015/07/15 - 2015/12/31 Projecto estratégico i3S [Strategic Program i3S]
UID/BIM/04293/2013
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Instituto Nacional de Engenharia Biomédica, Portugal

Universidade do Porto, Portugal
Fundação para a Ciência e a Tecnologia

Programa Operacional Factores de Competitividade
Concluded
2014/04/01 - 2014/09/30 Projeto estratégico 2013 [Strategic Program 2013]
PEst-C/SAU/LA0002/2013
Research Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Programa Operacional Factores de Competitividade, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference abstract
  1. Maia, Nuno; Loureiro, Joana R; Oliveira, Bárbara; Marques, Isabel; Santos, Rosário; Martins, Sandra; Jorge, Paula. "Origin of normal-size FMR1 alleles without AGG interspersions". Paper presented in UMIB Summit 2015, Porto, 2016.
    Published • 10.1097/MD.0000000000002371
  2. Loureiro, Joana R; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana I; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel. "Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes". Paper presented in European Human Genetics Conference 2012, Nuremberg, 2012.
    Published • 10.1055/s-0038-1675956
Conference poster
  1. Castro, Ana F; Figueiredo, Ana S; Loureiro, Joana R; Valentim, Ana M; Bessa, J; Silveira, I. "SCA37 (ATTTC)n cell and animal models as valuable resources for therapeutic screening". Paper presented in Final Meeting of COST Action 17103 DARTER Delivery of RNA Antisense Therapeutics, Bilbao, 2023.
  2. Castro, Ana F; Loureiro, Joana R; Ferreira, Jorge M; Valentim, Ana M; Bessa, José; Silveira, Isabel. "The spinocerebellar ataxia type 37 ATTTC repeat insertion impacts zebrafish CNS development". Paper presented in Neuroscience 2022 (Society for Neurosciences- SFN Meeting), 2022.
  3. Castro, Ana F; Figueiredo, Ana S; Loureiro, Joana R; Marcelino, Hugo; Teixeira, Joana; Bessa, José; Silveira, Isabel. "Decoding the Genomic Landscape of Spinocerebellar Ataxia Type 37 Locus : A Focus on Insulator Elements". Paper presented in virtual EMBO Workshop: Neuroepigenetics: From Cells to Behaviour and Disease, 2020.
  4. Loureiro, Joana R; Oliveira, Cláudia L; Mota, Carolina; Castro, Ana F; Costa, Cristina; Loureiro, José L; Coutinho, Paula; et al. "Genetic Characterization of the Spinocerebellar Ataxia Type 37 Locus and Mutational Mechanism for the Birth of DAB1 Pathogenic Alleles". Paper presented in International Meeting of the Portuguese Society of Genetics, Faro, Portugal, 2020.
  5. Loureiro, Joana R; Oliveira,Cláudia L; Mota, Carolina; Castro, Ana F; Costa, Cristina; Loureiro, José L; Coutinho, Paula; et al. "Origin of DAB1 (ATTTC)n insertion and repeat instability in spinocerebellar ataxia type 37". Paper presented in 23ª Reunião Anual SPGH [23rd Annual Meeting of the Portuguese Society of Human Genetics], Coimbra, Portugal, 2019.
  6. Castro, Ana F; Loureiro, Joana R; Marcelino, Hugo; Teixeira, Joana; Bessa, José; Silveira, Isabel. "Antisense transcription across the SCA37 locus and role in the disease". Paper presented in 23ª Reunião Anual SPGH, 2019.
  7. Loureiro, Joana R; Oliveira, Cláudia L; Sequeiros, Jorge; Silveira, Isabel. "A simple method for (ATTTC)n detection in SCA37 suitable for other repeat diseases". Paper presented in International Meeting on Spastic Paraparesis and Ataxia, Nice, France, 2019.
  8. Castro, Ana F; Loureiro, Joana R; Marcelino, Hugo; Teixeira, Joana; Silveira, Isabel; Bessa, José. "Antisense expression across the repeat insertion in DAB1 and relevance for the pathogenic mechanism of SCA37". Paper presented in VIII National RNA Meeting: ptRNA2019, Porto, Portugal, 2019.
  9. Maia, Nuno; Loureiro, Joana R; Oliveira, Barbara; Marques, Isabel; Santos, Rosário; Jorge, Paula; Martins, Sandra. "Are pure normal FMR1 alleles originated from contractions of expanded repeats?". Paper presented in 17th meeting Portugaliae Genetics, Porto, Portugal, 2016.
  10. Loureiro, Joana R; Seixas, Ana I; Loureiro, José L; Carracedo, Ángel; Sobrido, Maria J; Coutinho, Paula; Sequeiros, Jorge; Silveira, Isabel. "Genetics of spinocerebellar ataxias in Portuguese families: screening for SCA15, SCA28 and SCA36". Paper presented in American Society of Human Genetics 63rd Annual Meeting, Boston, USA, 2013.
  11. Loureiro, Joana R; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana I; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel. "Fragile X Syndrome: Intergenerational allele instabillity and associated phenotypes in families". Paper presented in 16ª Reunião anual da SPGH [16th Annual Meeting of the Portuguese Society of Human Genetics], Porto, Portugal, 2012.
  12. Marques, Isabel; Jorge, Paula; Loureiro, Joana R; Santos, Rosário. "Evaluating the influence of four variants detected in FRAXA and FRAXE loci". Paper presented in 15ª Reunião anual da SPGH [15th Annual Meeting of the Portuguese Society of Human Genetics], Lisboa, Portugal, 2011.
  13. Seixas, Ana I; Vale, José; Martins, Márcia; Loureiro, Joana R; Jorge, Paula; Marques, Isabel; Santos, Rosário; et al. "FMR1 premutations may be associated with a wider spectrum of phenotypes". Paper presented in 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, Berlim, Germany, 2011.
  14. Loureiro, Joana R; Marques, Isabel; Oliveira, Barbara; Amorim, António; Santos, Rosário; Jorge, Paula. "Fragile X Syndrome: Genetic Backgrounds". Paper presented in Congresso Nacional de Bioquímica, [Biochemistry National Congress], Porto, Portugal, 2010.
  15. Oliveira, Barbara; Marques, Isabel; Loureiro, Joana R; Santos, Rosário; Jorge, Paula. "Fragile X mental retardation protein broadening the possibilities for studying fragile X syndrome". Paper presented in Congresso Nacional de Bioquímica [Biochemistry National Congress], Porto, Portugal, 2010.
  16. Loureiro, Joana R; Marques, Isabel; Costa, Eurico; Oliveira, Barbara; Santos, Rosário; Jorge, Paula. "SNP genotyping of FMR1 gene by high resolution melting curve analysis". Paper presented in 14ª Reunião da SPGH [14th Annual Meeting of the Portuguese Society of Human Genetics], Coimbra, Portugal, 2010.
  17. Oliveira, Barbara; Marques, Isabel; Loureiro, Joana R; Santos, Rosário; Jorge, Paula. "FMR1 repeat region instability assessment by Triplet-Primed PCR". Paper presented in 14ª Reunião da SPGH [14th Annual Meeting of the Portuguese Society of Human Genetics], Coimbra, Portugal, 2010.
Journal article
  1. Figueiredo, Ana S.; Loureiro, Joana R.; Macedo-Ribeiro, Sandra; Silveira, Isabel. "Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase". Cells 12 6 (2023): 826. http://dx.doi.org/10.3390/cells12060826.
    10.3390/cells12060826
  2. Loureiro, Joana R.; Castro, Ana F.; Figueiredo, Ana S.; Silveira, Isabel. "Molecular Mechanisms in Pentanucleotide Repeat Diseases". Cells 11 2 (2022): 205. http://dx.doi.org/10.3390/cells11020205.
    Open access • Published • 10.3390/cells11020205
  3. Castro, Ana F; Loureiro, Joana R; Bessa, J; Silveira, I. "Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries". Genes 11 (2020): 1418. https://doi.org/10.3390/genes11121418.
    Open access • Published • https://doi.org/10.3390/genes11121418
  4. Loureiro, Joana R; Oliveira, Cláudia L; Mota, Carolina; Castro, Ana F; Costa, Cristina; Loureiro, José L; Coutinho, Paula; et al. "Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution". Human Mutation 40 4 (2019): 404-412. http://dx.doi.org/10.1002/humu.23704.
    10.1002/humu.23704
  5. Loureiro, Joana R; Oliveira, Cláudia L; Sequeiros, Jorge; Silveira, Isabel. "A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37". Journal of Human Genetics 63 9 (2018): 981-987. https://doi.org/10.1038/s10038-018-0474-3.
    10.1038/s10038-018-0474-3
  6. Maia, Nuno; Loureiro, Joana R; Oliveira, Bárbara; Marques, Isabel; Santos, Rosário; Jorge, Paula; Martins, Sandra. "Contraction of fully expanded FMR1 alleles to the normal range: Predisposing haplotype or rare events?". Journal of Human Genetics 62 2 (2017): 269-275. https://doi.org/10.1038/jhg.2016.122.
    10.1038/jhg.2016.122
  7. Seixas, Ana I; Loureiro, Joana R; Costa, Cristina; Ordóñez-Ugalde, Andrés; Marcelino, Hugo; Oliveira, Cláudia L; Loureiro, José L; et al. "A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia". American Journal of Human Genetics 101 1 (2017): 87-103. https://doi.org/10.1016/j.ajhg.2017.06.007.
    10.1016/j.ajhg.2017.06.007
  8. Loureiro, Joana R; Oliveira, Cláudia L; Silveira, Isabel. "Unstable repeat expansions in neurodegenerative diseases: Nucleocytoplasmic transport emerges on the scene". Neurobiology of Aging 39 (2016): 174-183. https://doi.org/10.1016/j.neurobiolaging.2015.12.007.
    10.1016/j.neurobiolaging.2015.12.007
Thesis / Dissertation
  1. Loureiro, Joana R. "Non-coding Repeat Insertion and RNA-mediated Neurodegeneration". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 2019. https://hdl.handle.net/10216/119222.
  2. Loureiro, Joana R. "Síndrome de X-frágil em Portugal: caracterização molecular por SNPs e STRs [Fragile X syndrome in Portugal: molecular characterization by SNPs and STRs]". Master, Universidade de Lisboa Faculdade de Ciências, 2010. https://repositorio.ul.pt/handle/10451/2784.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2022/11/17 DAB1-antisense expression at the spinocerebellar ataxia type 37 (SCA37) locus and disease 26th Annual Meeting of the Portuguese Society of Human Genetics
(Coimbra, Portugal)
2021/04/16 The need for speed in zebrafish behavioural analysis Euro-BioImaging event: Virtual Pub Speed edition
Euro-BioImaging (virtual)
2020/01/24 Is Bidirectional Transcription of the Pathogenic Repeat Associated with Spinocerebellar Ataxia Type 37? International meeting of the Portuguese Society of Genetics
University of Algarve (Faro, Portugal)
2019/03/16 SCA37: Características clínicas e imagiológicas de uma nova ataxia espinocerebelosa autossómica dominante Congresso SPDMov 2019
SPDMov- Sociedade Portuguesa de Doenças do Movimento [Portuguese Movement Disorder Society] (Curia, Portugal)
2019/03/16 Perfil neuropsicológico de doentes com ataxia espinocerebelosa autossómica dominante tipo 37 Congresso SPDMov 2019
SPDMov- Sociedade Portuguesa deDoenças do Movimento [PortugueseMovement Disorder Society] (Curia)
2018/11/17 Invited Communication: A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia 22ª Reunião Anual da SPGH [22nd Annual Meeting of the Portuguese Society of Human Genetics]
Sociedade Portuguesa de Genética Humana [Portuguese Society of Human Genetics] (Porto, Portugal)
2018/02/23 Invited Seminar: A spinocerebellar ataxia mapping to the SCA37 locus is caused by a pentanuceotide ATTTC repeat insertion in the noncoding region of the DAB1 gene 3º ciclo de seminários científicos UMIB [ 3rd cycle of Scientific Seminars of the Unit for Multidisciplinary Research in Biomedicine]
Unidade Multidisciplinar de Investigação Biomédica ICBAS-FFUP (Porto, Portugal)
2017/10/19 A spinocerebellar ataxia mapping to the SCA37 locus is caused by a pentanucleotide ATTTC repeat insertion in the noncoding region of the DAB1 gene American Society of Human Genetics 67th Annual Meeting
American Society of Human Genetics (Orlando, United States)
2015/09/24 Origin of Normal-size FMR1 alleles without [AGG] interspersions Unit for Multidisciplinary Research in Biomedicine- UMIB Summit 2015
UMIB (Porto, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2021/12/02 - Current Molecular Mechanisms and Therapy in Neurodegenerative Pentanucleotide Repeat Diseases
Co-supervisor of Ana Sofia Figueiredo
 Programa Doutoral em Biologia Molecular e Celular (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021/09 - 2023/03/03 Characterization of a Cis-regulatory Element in Spinocerebellar Ataxia Type 37 (SCA37) Locus
Supervisor of Catarina Carmo da Rocha Martinho Rodrigues
 Genética Molecular (Master)
Universidade do Minho, Portugal
2020/09 - 2022/01/21 Investigation of non-AUG dependent pentanucleotide repeat translation in spinocerebellar ataxia type 37
Supervisor of Ângela Sofia Moreira Marques
 Biomedicina Molecular (Master)
Universidade de Aveiro, Portugal
2020/09 - 2021/11/25 Brain expression of the DAB1 repeat region causing spinocerebellar ataxia type 37
Co-supervisor of Catarina Silva Viegas
 Neurobiologia (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2020/09 - 2021/07/05 Modeling in zebrafish a neurodegenerative disease characterized by ataxia
Supervisor of Inês Sofia Messias Maia Ferreira
 Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2020/02/07 - 2020/07/15 Pathogenic Mechanisms in Non-Coding Repeat Expansion Diseases: Moving Towards Treatments
Supervisor of João Tiago dos Santos Palma
 Bioengenharia (Degree)
Universidade do Porto Faculdade de Engenharia, Portugal
2019/09/23 - 2020/07/13 A zebrafish model to investigate the pathogenic mechanisms in a neurodegenerative disease characterized by ataxia
Supervisor of Catarina Carmo da Rocha Martinho Rodrigues
 Biologia (Degree)
Universidade do Porto Faculdade de Ciências, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2018/05/30 - 2018/05/30 1st PhDay at i3S From bench to stage, from desk to forum (2018/05/30 - 2018/05/30)
Symposium (Member of the Organising Committee)
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2014/01/02 - 2014/11/17 FROM GENE TO GENIUS: first annual symposium of the Doctoral Program in Molecular and Cell Biology (2014/11/17 - 2014/11/17)
Symposium (Member of the Organising Committee)
 Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010/05/17 - 2010/05/21 Semana aberta 2010 - viagem pela saúde (2010/05/17 - 2010/05/21)
Other (Member of the Organising Committee)
 Centro de Genética Médica Doutor Jacinto Magalhães, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2022/04/21 - 2022/04/24 Mostra da UP: presenting the research work performed at i3S to high school students and to the general public.
Exhibition
 Mostra da Universidade do Porto
Universidade do Porto, Portugal
2020/02/03 - 2020/02/07 [COST] Action CA17103- Training School: The guide to antisense development
Workshop
 DARTER Training School: The guide to antisense development
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/02/09 - 2018/02/09 Presentation of the research work performed by the Genetics of Cognitive Dysfunction group at i3S
Other
 Programa Educativo do i3S [I3S Educational Program]
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2012/09/03 - 2012/09/08 Coach of high school students in the project: "Aspetos moleculares, éticos e psicossociais em doenças neurodegenerativas" [Molecular, ethical and psychosocial aspects in neurodegenerative diseases]
Other
 Universidade Junior- Escola da Saúde [Junior University-Health School]
Universidade do Porto, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2023/12/06 Tackling the trans-kingdom transcription regulatory machinery: are plant pioneer transcription factors capable of recruiting animal chromatin remodelers?
(Thesis) Arguer
 Maria Francisca Ribeiro (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2023/03/03 Characterization of a Cis-regulatory Element in Spinocerebellar Ataxia Type 37 (SCA37) Locus
Supervisor
 Catarina Rodrigues (Master)
Universidade do Minho Departamento de Biologia, Portugal
2022/01/21 Investigation of non-AUG dependent pentanucleotide repeat translation in SCA37
Supervisor
 Ângela Marques (Master)
Universidade de Aveiro, Portugal

Ad Hoc journal article review

Journal title (ISSN) Publisher
2023/01/10 - Current Frontiers in Molecular Neuroscience (1662-5099) Frontiers
2021/03 - Current Biology ( 2079-7737) MDPI
2021/02 - Current Genes (2073-4425) MDPI

Association member

Society Organization name Role
2017 - Current American Society of Human Genetics, USA Member

Conference scientific committee

Conference name Conference host
2023/02/23 - 2023/02/24 9TH Edition | Molecular and Cell Biology Symposium Instituto de Investigação e Saúde
2020/10/01 - 2020/10/01 3rd PhDay | Back to the Future Instituto de Investigação e Inovação em Saúde (i3S)

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2021/04 - Current Invited lecturer: Modelar Doenças Genéticas e Estratégias de Tratamento [Modeling Genetic Diseases and Treatment Strategies] Biotecnologia Farmacêutica (Mestrado) Universidade de Coimbra Faculdade de Farmácia, Portugal

Mentoring / Tutoring

Topic Student name
2020/01 - Current PhD Thesis: Molecular pathogenic mechanisms and therapy for spinocerebellar ataxia type 37 Ana Filipa Azevedo Castro
2021/02 - 2021/05 Laboratory Animal Science course Ana Sofia Figueiredo
2021/02 - 2021/05 Laboratory Animal Science course Catarina Viegas
2019/09 - 2020/12 MSc dissertation: Relevance of Epigenetics in the Pathogenic Mechanism of Spinocerebellar Ataxia Type 37 Ana Sofia Tavares Figueiredo
2018/10 - 2020/07 MSc dissertation: Role of Repeat Instability in the Neurodegenerative Disease Spinocerebellar Ataxia Type 37 Rita Isabel dos Santos Ratola
2017/09 - 2018/10 MSc dissertation: Antisense expression across the repeat insertion in DAB1 and relevance for the pathogenic mechanism of SCA37 Ana Filipa Azevedo Castro
2017/10 - 2018/05 BSc dissertation: Genetic characterization of SCA37 pentanucleotide alleles Carolina Rodrigues Fontes Mota
2012/01 - 2012/06 Internship: Fragile-X mental retardation gene: Frequency of premutations in the Portuguese population Sara Jorge Moreira da Rocha
2011/10 - 2012/06 BSc dissertation: Frequency of the fragile-X mental retardation (FMR1) gene premutations in Portuguese population Patricia Alexandra Carvalho Simões
Distinctions

Award

2018 Prémio SPGH 2018 [Portuguese Society of Human Genetics (SPGH) 2018 Award]
Sociedade Portuguesa de Genética Humana, Portugal
2017 ASHG/Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research- winner
American Society of Human Genetics, United States
2015 EMBO Short-term fellowship
European Molecular Biology Organization, Germany