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Identification

Personal identification

Full name
Ana Rosa Vieira Melo

Author identifiers

Ciência ID
F41C-433B-8533
Education
Degree Classification
2017 - 2023
Concluded
 Biologia (Doutoramento)
Universidade dos Açores, Portugal
"Unveiling the role of methylation prone (MP) and untranslated (UTRs) regions in the clinical variability of Spinocerebellar Ataxia Type 3(SCA3) /Machado-Joseph Disease (MJD): a genome-wide approach" (THESIS/DISSERTATION)
 19 valores
2018 - 2018
Concluded
 Genética Médica e Laboratorial (Outros)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2016
Concluded
 Mestrado em Ciências Biomédicas (Mestrado)
Universidade dos Açores, Portugal
"DEVELOPMENT OF TRIPLET REPEAT PRIMED PCR (TP-PCR) TECHNIQUE AS A SUPPORT OF MOLECULAR TEST IN MACHADO-JOSEPH DISEASE " (THESIS/DISSERTATION)
 16 valores
2010 - 2013
Concluded
 Ciências Biológicas e da Saúde (Licenciatura)
Universidade dos Açores, Portugal
"n/a" (THESIS/DISSERTATION)
 15 valores
2005 - 2009
Attended
 Bioquímica (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
Affiliation

Science

Category
Host institution 		Employer
2024/01/01 - Current Postdoc (Research) Universidade do Porto Unidade Multidisciplinar de Investigação Biomédica, Portugal
2015 - Current Researcher (Research) Universidade dos Açores, Portugal
2016/12 - 2023 Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/10/28 - 2018/11/27 Research Trainee (Research) Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal

Others

Category
Host institution 		Employer
2016/12/28 - 2017/10/31 Research Grant at the European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) project Fundação Gaspar Frutuoso, Portugal
2016/10/11 - 2016/11/22 Services contract at the European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) project. Fundação Gaspar Frutuoso, Portugal
Projects

Grant

Designation Funders
2017/11/01 - 2021/12/31 Unveiling the role of methylation prone MPRs and untranslated UTRs regions in the clinical variability of Spinocerebellar Ataxia Type 3SCA3: a genome-wide approach.
SFRH/BD/129547/2017
Universidade dos Açores, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2016 - 2017 ESMI - European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
JPCOFUND/0002/2015
Research Fellow
Fundação para a Ciência e a Tecnologia
Ongoing

Contract

Designation Funders
2016/05/01 - 2020/03/31 Iniciativa Europeia para a ataxia espinocerebelosa do tipo 3/doença de Machado-Joseph
JPCOFUND/0002/2015
Fundação Gaspar Frutuoso, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2019/01/01 - 2019/12/31 Institute for Research and Innovation in Health Sciences
UID/BIM/04293/2019
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto, Portugal

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
Fundação para a Ciência e a Tecnologia
Concluded
2016/06/01 - 2019/03/29 Sequenciação do exoma de pares discordantes e concordantes de irmãos com ataxia espino-cerebelosa do tipo 3 SCA3: uma ferramenta para identificar novos modificadores e investigar vias moleculares alteradas.
PTDC/DTP-PIC/2638/2014
Fundação Gaspar Frutuoso, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded

Other

Designation Funders
2020 - Current ESMI Network
ESMI
Researcher
Ongoing
2017 - 2020 ESMI - European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
JPCOFUND/0002/2015
Researcher
Fundação para a Ciência e a Tecnologia
Ongoing
2016 - 2019 EXOS3- Whole-exome sequencing of discordant and concordant affected sib pairs in spinocerebellar ataxia type 3 (SCA3): a tool to identify novel modifier genes and highlight disrupted molecular pathways
PTDC/DTP- PIC/2638/2014
Researcher
Fundação para a Ciência e a Tecnologia
Concluded
2016 - 2016 Projeto Regional Integrado sobre a doença de Machado-Joseph (DMJ)/Ataxia espino-cerebelosa tipo 3 (SCA3)
sem referência
Researcher
Governo dos Açores
Concluded
Outputs

Publications

Conference abstract
  1. Raposo, Mafalda; Hübener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana Filipa Bartolomeu; Melo, Ana Rosa Vieira; Vasconcelos, João; Pires, Paula; et al. "ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD". Paper presented in 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH ¿ Sociedade Portuguesa de Genética Humana, Coimbra, 2023.
    Published
Conference poster
  1. Melo, Ana Rosa Vieira. "Variation in 5’ Untranslated Region of ataxin-3 (ATXN3) gene in Machado-Joseph disease (MJD)". Paper presented in uMed Congresso Médico Científico, 2019.
  2. Melo, Ana Rosa Vieira. "Searching for modifier effects of variation in Untranslated Regions (UTR) of the ataxin-3 gene (ATXN3) in Machado-Joseph disease (MJD): a pilot study". Paper presented in 2019 International Ataxia Research Conference, 2019.
  3. Melo, Ana Rosa Vieira. "Complexidades do Teste Molecular para a Doença de Machado-Joseph". Paper presented in II Jornadas da Saúde, 2017.
Journal article
  1. Tim Lukas Elter; Daniel Sturm; Magda M. Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; et al. "Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3". Journal of Neurology (2025): https://doi.org/10.1007/s00415-024-12829-9.
    10.1007/s00415-024-12829-9
  2. Ahmed M. Sidky; Ana Rosa Vieira Melo; Teresa T. Kay; Mafalda Raposo; Manuela Lima; Darren G. Monckton. "Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease". Human Genetics (2024): https://doi.org/10.1007/s00439-024-02698-7.
    10.1007/s00439-024-02698-7
  3. Teves, Luís; Vieira Melo, Ana Rosa; Ferreira, Ana F.; Raposo, Mafalda; Lemos, Carolina; Bettencourt, Conceição; Lima, Manuela. "Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers". Epigenetics 19 1 (2024): https://doi.org/10.1080/15592294.2024.2368995.
    10.1080/15592294.2024.2368995
  4. Raposo, Mafalda; Hübener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, João; Pires, Paula; et al. "Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease". Neurobiology of Disease (2024): 106456. http://dx.doi.org/10.1016/j.nbd.2024.106456.
    Accepted • 10.1016/j.nbd.2024.106456
  5. Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hubener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M.; Grobe-Einsler, Marcus; et al. "Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3". Annals of Neurology 95 2 (2023): 400-406. https://doi.org/10.1002/ana.26824.
    10.1002/ana.26824
  6. Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; et al. "A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia". Neuropathology and Applied Neurobiology 49 2 (2023): https://doi.org/10.1111/nan.12892.
    10.1111/nan.12892
  7. Lima, Manuela; Raposo, Mafalda; Ferreira, Ana; Melo, Ana Rosa Vieira; Pavão, Sara; Medeiros, Filipa; Teves, Luís; et al. "The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research". Biomedicines 11 2 (2023): 247. http://dx.doi.org/10.3390/biomedicines11020247.
    Published • 10.3390/biomedicines11020247
  8. Ana Rosa Vieira Melo; Mafalda Raposo; Marta Ventura; Sandra Martins; Sara Pavão; Isabel Alonso; Conceição Bettencourt; Manuela Lima. "Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3". The Cerebellum (2022): https://doi.org/10.1007/s12311-021-01358-0.
    10.1007/s12311-021-01358-0
  9. Raposo, Mafalda; Bettencourt, Conceição; Melo, Ana Rosa Vieira; Ferreira, Ana F.; Alonso, Isabel; Silva, Paulo; Vasconcelos, João; et al. "Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing". Neurobiology of Disease 162 (2022): 105578. http://dx.doi.org/10.1016/j.nbd.2021.105578.
    Open access • 10.1016/j.nbd.2021.105578
  10. Ramos, A.; Planchat, M; Melo, ARV; Raposo, M; Shamim, U; Suroliya, V; Srivastava, AK; et al. "Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations". European Journal of Neurology 26 3 (2019): https://doi.org/10.1111/ene.13860.
    Published
  11. Melo, A.R.V.; Ramos, A.; Kazachkova, N.; Raposo, M.; Bettencourt, B.F.; Rendeiro, A.R.; Kay, T.; et al. "Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3)". Molecular Diagnosis and Therapy 20 6 (2016): 617-622. http://www.scopus.com/inward/record.url?eid=2-s2.0-84988355035&partnerID=MN8TOARS.
    10.1007/s40291-016-0235-y
Newspaper article
  1. Melo, Ana Rosa Vieira; Ferro, A; Barbeitos, S. "Tuberculose: uma realidade que perdura!", Açoriano Oriental, 2014
Thesis / Dissertation
  1. Melo, Ana Rosa Vieira. "Development of triplet repeat primed PCR (TP-PCR) technique as a support of molecular test in Machado-Joseph disease". Master, 2016. http://hdl.handle.net/10400.3/3666.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2019/11/12 Searching for modifier effects of variation in Untranslated Regions (UTR) of the ataxin-3 gene (ATXN3) in Machado-Joseph disease (MJD): a pilot study. MJD Research Conference
The MJD Foundation (Washington D.C., United States)

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2019/11/14 - 2019/11/16 Poster presentation with the title "Searching for modifier effects of variation in Untranslated Regions (UTR) of the ataxin-3 gene (ATXN3) in Machado-Joseph disease (MJD): a pilot study " and attendance of the full event.
Congress
 2019 International Ataxia Research Conference
2019/05/10 - 2019/05/11 Poster presentation with the title "Variation in 5’ Untranslated Region of ataxin-3 (ATXN3) gene in Machado-Joseph disease (MJD)." and attendance of the full event. University of the Azores, Ponta Delgada, Azores, Portugal.
Congress
 uMed Congresso Médico Científico 2019
2017/04/29 - 2017/04/30 Poster presentation with the title "Complexidades do Teste Molecular para a Doença de Machado-Joseph.". Ponta Delgada, Azores, Portugal.
Conference
 II Jornadas da Saúde