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I have a degree in Biochemistry, a master's degree in Forensic Science and a PhD in Molecular Medicine. The post-doc was held at the National Institute of Health Dr. Ricardo Jorge where I remain as a member of the Research and Development Unit team of the Human Genetics Department. My scientific activity has been focused on the field of Human Genetics, particularly in the genetic analysis of hereditary diseases using next generation sequencing (NGS). During my PhD in Spain, I developed the first genetic diagnostic test for all hereditary kidney diseases and established the genetic analysis unit for these diseases (NEFROCHUS). Since the post-doc, I have been studying the genetic defects of mitochondrial diseases through an NGS approach. Now I carry out molecular and biochemical studies of lysosomal storage disorders.
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Identification

Personal identification

Full name
Lisbeth Elena Sousa E Silva

Citation names

  • Silva, Lisbeth
  • Sousa Silva, Lisbeth

Author identifiers

Ciência ID
211F-BC45-C4BE
ORCID iD
0000-0001-7125-8488
Researcher Id
S-8443-2018
Scopus Author Id
57195459385

Email addresses

  • lisbeth.silva@insa.min-saude.pt (Professional)
  • lisbeth.silva@insa.min-saude.pt (Personal)

Telephones

Telephone
  • 223401136 (Professional)

Knowledge fields

  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions

Languages

Language Speaking Reading Writing Listening Peer-review
Spanish; Castilian Advanced (C1) Upper intermediate (B2) Upper intermediate (B2) Advanced (C1)
English Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2) Upper intermediate (B2)
Portuguese (Mother tongue)
Education
Degree Classification
2016/06/01 - 2018/05/31
Concluded
 Genetic defects of mitochondrial diseases: a next generation sequencing approach. (Pós-doutoramento)
National Institute of Health Dr. Ricardo Jorge - Human Genetics Department, Portugal
2012/01/01 - 2015/12/21
Concluded
 Molecular Medicine (Doktor (PhD))
Major in genetic diagnosis of hereditary kidney diseases
University of Santiago de Compostela, Spain
"Development of a strategy to diagnose and predict all hereditary kidney diseases. " (THESIS/DISSERTATION)
 Excellent with honor 'cum laude
2009/10/13 - 2011/07/19
Concluded
 Science Forensic (Mestrado)
Higher Institute of Health Sciences of the North-CESPU, Portugal
"Effect of Cocaine, Morphine, and their combination in liver mitochondrial bioenergetics." (THESIS/DISSERTATION)
 17
2009
Concluded
 Biochemistry (Licenciatura)
University of Trás-os-Montes and Alto Douro (UTAD), Portugal
"Action of Ketamine in liver mitochondrial bioenergetics" (THESIS/DISSERTATION)
 15
Affiliation

Others

Category
Host institution 		Employer
2018/06/01 - Current PostDoc (Regularization Process for Precarious Workers -PREVPAP) National Institute of Health Dr. Ricardo Jorge - Human Genetics Department, Portugal
2016/06/01 - 2018/05/31 Postdoctoral Fellowship in the project “Genetic defects of mitochondrial diseases: next generation sequencing approach - FCT PTDC/DTP-PIC/2220/2014.” National Institute of Health Dr. Ricardo Jorge - Human Genetics Department, Portugal
2015/03/01 - 2015/12/31 Biochemistry Contract Health Research Institute of Santiago de Compostela (IDIS), Spain
Genetics and Biology of the Development of Kidney Diseases Unit, Sanitary Research Institute (IDIS) of the University Hospital Complex of Santiago de Compostela, Spain
2012/01/01 - 2015/12/31 Biochemistry Contract/ Predoctoral Fellowship with the project "Development of a strategy to diagnose and predict all hereditary kidney diseases." Health Research Institute of Santiago de Compostela (IDIS), Spain
Genetics and Biology of the Development of Kidney Diseases Unit, Sanitary Research Institute (IDIS) of the University Hospital Complex of Santiago de Compostela, Spain
2010/09/01 - 2011/07/01 Master's Student in the project "Effect of cocaine, morphine and their combination on bioenergetic of rat liver mitochondria." Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
Higher Institute of Health Sciences of the North-CESPU, Portugal
Projects

Grant

Designation Funders
2016/06/01 - 2018/05/31 Genetic defects of mitochondrial diseases: a next generation sequencing approach.
PTDC/DTP-PIC/2220/2014
Post-doc Fellow
National Institute of Health Dr. Ricardo Jorge - Human Genetics Department, Portugal
 Foundation for Science and Technology (FCT)
Concluded

Contract

Designation Funders
2012/01/01 - 2015/12/31 Rapid techniques for prevention, diagnosis and search for therapeutic treatment of polycystic kidney disease (PKD): "PKD-iagnostic test" and in vitro explant cystogenic model”.
PI11/00690, ISCIII-AES2011
PhD Student Fellow
Health Research Institute of Santiago de Compostela (IDIS), Spain
 Carlos III Health Institute, Ministry of Economy and Innovation
Concluded

Other

Designation Funders
2022/01/02 - 2023/07/01 RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases – FCT, EXPL/BTM-TEC/1477/2021
EXPL/BTM-TEC/1477/2021
Other
National Health Institute Doutor Ricardo Jorge., Portugal
 Associação para a Inovação e Desenvolvimento da FCT
Concluded
2015/01/01 - 2016/01/01 First test for genetic diagnosis of all kidney diseases and establishment of the unit of genetic analysis of hereditary kidney diseases NEFROCHUS.
PRIS 2013
Other
Genetics and Biology of the Development of Kidney Diseases Unit, Sanitary Research Institute (IDIS) of the University Hospital Complex of Santiago de Compostela, Spain
Public Health Ministry of Galicia
Concluded
2013/01/01 - 2015/12/31 Kidney network of nephrology: REDinREN. Research network of hereditary kidney diseases 2.0.
REDinREN2.0/RD12 /0021/0016
Other
RETICS Network, Carlos III Health Institute, Ministry of Economy and Innovation
Concluded
2013 - 2014 Diagnosis, prognosis and search for early treatment of polycystic kidney: a way to avoid dialysis and transplantation.
SENEFRO2013
Other
Health Research Institute of Santiago de Compostela (IDIS), Spain
 Spanish Society of Nephrology (SENEFRO)
Concluded
Outputs

Publications

Conference paper
  1. Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; et al.. "Next Generation Sequencing improves Mitochondrial diseases diagnosis.". Paper presented in Journal of Inborn Errors of Metabolism and Screening, 2017., Rio de Janeiro, 2017.
    Published
Conference poster
  1. Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; et al.. "Next Generation Sequencing Improves Mitochondrial Diseases Diagnosis.". Paper presented in 13th International Congress of Inborn Errors of Metabolism, 2017.
  2. Silva, Lisbeth; Nogueira, Célia; et al.. "Next Generation Sequencing analysis of nuclear genes associated with mitochondrial disorders.". Paper presented in International Symposium MitoPorto., 2017.
  3. Nogueira, Célia; Vilarinho, Laura; Pereira, Cristina; Silva, Lisbeth; et al.. "Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine.". Paper presented in SPDM, 2017.
  4. Coutinho, Maria Francisca; Encarnação, Marisa; Nogueira, Célia; Silva, Lisbeth; et al.. "Development of next generation sequencing (NGS) gene panel for lysosomal storage diseases.". Paper presented in 13th International Symposium of SPDM., 2017.
  5. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; et al.. "Estratégia eficiente e compreensiva para diagnosticar todas as doenças renais hereditárias.". Paper presented in Semana Renal 2015, Sociedade Americana de Nefrologia (ASN)., 2015.
  6. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; et al.. "Caracterização genética de pacientes com doença glomerular hereditária como base de uma ação global em diagnóstico, prognóstico e tratamento.". Paper presented in 2º Congresso da Sociedade Galega de Nefrologia., 2015.
  7. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; Lamas González, Olaya; et al.. "NEFROCHUS: um novo modelo para caracterização genética de pacientes com doença renal hereditária.". Paper presented in 2º Congresso de la Sociedade Galega de Nefrologia., 2015.
  8. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Estudo genético da doença poliquística renal em Galícia.". Paper presented in 2º Congresso de la Sociedade Galega de Nefrologia., 2015.
  9. Lamas González, Olaya; Sousa Silva, Lisbeth; Besada Cerecedo, Lara; et al.. "Estudo genético de doenças tubulares renais hereditárias na população Galega por sequenciação de nova geração (NGS).". Paper presented in 2º Congresso da Sociedade Galega de Nefrologia, 2015.
  10. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; Lamas González, Olaya; et al.. "NEFROCHUS: um novo modelo para caracterização genética de pacientes com doença renal hereditária.". Paper presented in XLV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2015.
  11. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; Lamas González, Olaya; et al.. "Caracterização genética de pacientes com doença glomerular hereditária como base de uma ação global em diagnóstico, prognóstico e tratamento.". Paper presented in XLV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2015.
  12. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Estudo genético da doença poliquística renal em Galícia.". Paper presented in XLV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2015.
  13. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Estudo genético de doenças tubulares renais hereditárias na população Galega por sequenciação de nova geração (NGS).". Paper presented in XLV Congresso Nacional de la Sociedade Espanhola de Nefrologia., 2015.
  14. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; et al.. "NEFROCHUS: um novo modelo para caracterização genética de pacientes com doença renal hereditária.". Paper presented in III Jornadas de Investigação Biointegrasaúde 2015., 2015.
  15. Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Caracterização genética de pacientes com doença glomerular hereditária como base de uma ação global em diagnóstico, prognóstico e tratamento.". Paper presented in III Jornadas de Investigação Biointegrasaúde 2015., 2015.
  16. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Estudo genético de doenças tubulares renais hereditárias na população Galega por sequenciação de nova geração (NGS).". Paper presented in III Jornadas de Investigação Biointegrasaúde 2015., 2015.
  17. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Estudo da doença poliquística renal em Galícia.". Paper presented in III Jornadas de Investigação Biointegrasaúde 2015., 2015.
  18. Sousa Silva, Lisbeth; Besada Cerecedo, Lara; et al.. "NEFROCHUS: Primeiro teste de diagnóstico/prognóstico para todas as doenças renais hereditárias.". Paper presented in 4º Curso de sequenciação de nova geração, Sociedade Europeia de Genética Humana., 2015.
  19. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Validação de um teste genético e funcional paradiagnóstico e prognóstico de todas as doenças renais hereditárias.". Paper presented in I Congresso da Sociedade Galega de Nefrologia., 2014.
  20. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Desenvolvimento e caracterização do primeiro teste de diagnóstico/prognóstico para todas as doenças tubulares renais hereditárias.". Paper presented in I Congresso da Sociedade Galega de Nefrologia., 2014.
  21. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Teste de diagnóstico/prognóstico para todas as doenças quísticas renais e todas as doenças renais hereditárias.". Paper presented in Sociedade Americana de Nefrologia 2015., 2014.
  22. Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Primeiro teste de diagnóstico/prognóstico para todas as doenças renais hereditárias.". Paper presented in XLIV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2014.
  23. Covelo, Helena; Sousa Silva, Lisbeth; et al.. "Desenvolvimento e caracterização do primeiro teste de diagnóstico/prognóstico para todas as doenças glomerulares hereditárias.". Paper presented in XLIV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2014.
  24. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Validação de um teste genético e funcional paradiagnóstico e prognóstico de todas as doenças renais hereditárias.". Paper presented in XLIV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2014.
  25. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Desenvolvimento e caracterização do primeiro teste de diagnóstico/prognóstico para todas as doenças tubulares renais hereditárias.". Paper presented in XLIV Congresso Nacional da Sociedade Espanhola de Nefrologia., 2014.
  26. Besada Cerecedo, Lara; Sousa Silva, Lisbeth; et al.. "Validação de um teste genético e funcional paradiagnóstico e prognóstico de todas as doenças renais hereditárias.". Paper presented in 2ª Jornada BiointegraSaúde 2014., 2014.
  27. Covelo, Helena; Sousa Silva, Lisbeth; et al.. "Desenvolvimento e caracterização do primeiro teste de diagnóstico/prognóstico para todas as doenças glomerulares hereditárias.". Paper presented in 2ª Jornada BiointegraSaúde 2014., 2014.
  28. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Desenvolvimento e caracterização do primeiro teste de diagnóstico/prognóstico para todas as doenças tubulares renais hereditárias.". Paper presented in 2ª Jornada BiointegraSaúde 2014., 2014.
  29. Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Identificação de fatores genéticos responsáveis pelo fenótipo vascular associado a doença poliquística renal (PKD): correlação genótipo/fenótipo em famílias ADPKD.". Paper presented in Encontro Renal 2014. XXVIII Congresso Português de Nefrologia., 2014.
  30. Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Primeiro teste de diagnóstico/prognóstico para todas as doenças renais hereditárias.". Paper presented in Encontro Renal 2014. XXVIII Congresso Português de Nefrologia., 2014.
  31. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Correlação genótipo/fenótipo da doença poliquística renal autossómica dominante de início muito precoce (VEO).". Paper presented in Encontro Renal 2014. XXVIII Congresso Português de Nefrologia., 2014.
  32. Sousa Silva, Lisbeth; Lamas González, Olaya; et al.. "Identificação de fatores genéticos responsáveis pelo fenótipo vascular associado a doença poliquística renal (PKD): correlação genótipo/fenótipo em famílias ADPKD.". Paper presented in XLIII Congresso Nacional da Sociedade Espanhola de Nefrologia., 2013.
  33. Lamas González, Olaya; Sousa Silva, Lisbeth. "Correlação genótipo/fenótipo da doença poliquística renal autossómica dominante de início muito precoce (VEO).". Paper presented in XLIII Congresso Nacional da Sociedade Espanhola de Nefrologia., 2013.
  34. Lamas González, Olaya; Sousa Silva, Lisbeth; et al.. "Correlação genótipo/fenótipo da doença poliquística renal autossómica dominante de inicio muito precoce (VEO).". Paper presented in BiointegraSaúde 2013., 2013.
  35. Sousa Silva, Lisbeth; Garcia Vidal, Marina; et al.. "Utilidade clinica de um teste molecular genético para a doença poliquística renal.". Paper presented in V Jornadas de Investigação Biomédica de Vigo., 2012.
  36. Sousa Silva, Lisbeth; Garcia Vidal, Marina; et al.. "Utilidade clinica de um teste molecular genético para a doença poliquística renal.". Paper presented in II Jornadas de Investigação Biosanitária., 2012.
  37. Silva, Isabel; Silva, Lisbeth; et al.. "Um Segredo guardado nos dentes. Os dentes como forma de identificação humana em situações de catástrofe.". Paper presented in IV Jornadas de Ciências: Cataclismos e Catástrofes., 2010.
  38. Firmino, Daniela; Pinto, Tiago; Sousa Silva, Lisbeth; et al.. "Avaliação da função mitocondrial de fígado de rato depois de administração crónica de cetamina.". Paper presented in “Mitocôndria: entre a vida e a morte” – Curso internacional de Toxicologia., 2009.
Journal article
  1. Celia Nogueira; Cristina Pereira; Silva, Lisbeth; Mateus Laranjeira; Altina Lopes; Raquel Neiva; et al; Laura Vilarinho. Corresponding author: Celia Nogueira. "The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study". Frontiers in Cell and Developmental Biology 12 (2024): https://doi.org/10.3389/fcell.2024.1331351.
    Published • 10.3389/fcell.2024.1331351
  2. Célia Nogueira; Lisbeth Silva; Ana Marcão; Carmen Sousa; Helena Fonseca; Hugo Rocha; Teresa Campos; et al. "Role of RNA in Molecular Diagnosis of MADD Patients". Biomedicines (2021): https://doi.org/10.3390/biomedicines9050507.
    10.3390/biomedicines9050507
  3. García Rabaneda, Carmen; Perea, Francisco; Bellido Díaz, María Luz; Morales García, Ana I; Martínez Atienza, Margarita; Sousa Silva, Lisbeth; González, Miguel Ángel García; Cabello, Francisco Ruiz; Esteban de la Rosa, Rafael J. "Founding mutations explains hotspots of polycystic kidney disease in Southern Spain". Clinical Kidney Journal (2020): http://dx.doi.org/10.1093/ckj/sfaa261.
    Published
  4. Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; et al. "Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants". International Journal of Molecular Sciences (2020): https://www.mdpi.com/1422-0067/21/17/6355.
    10.3390/ijms21176355
  5. Coutinho MF; Encarnação M; Matos L; Ribeiro D; Santos JI; Prata MJ; Vilarinho L; Alves S. "Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.". Diagnostics (Basel, Switzerland) (2020): https://doi.org/10.3390/diagnostics10020058.
    10.3390/diagnostics10020058
  6. Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Vieira, Luís; Leão Teles, Elisa; Rodrigues, Esmeralda; Campos, Teresa; et al. "Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction". Mitochondrion (2019): http://dx.doi.org/10.1016/j.mito.2019.02.006.
    Published • 10.1016/j.mito.2019.02.006
  7. Heras Benito, M.; Garcia-Gonzalez, M.A.; Valdenebro Recio, M.; Molina Ordás, Á.; Callejas Martínez, R.; Rodríguez Gómez, M.A.; Calle García, L.; Sousa Silva, L.; Fernández-Reyes Luis, M.J.. "The need for genetic study to diagnose some cases of distal renal tubular acidosis | Necesidad de estudio genético para el diagnóstico de algunos casos de acidosis tubular renal distal". Nefrologia 36 5 (2016): 552-555. http://www.scopus.com/inward/record.url?eid=2-s2.0-84991823739&partnerID=MN8TOARS.
    Published • 10.1016/j.nefro.2016.06.008
  8. Cunha-Oliveira, T.; Silva, L.; Silva, A.M.; Moreno, A.J.; Oliveira, C.R.; Santos, M.S.. "Acute effects of cocaine, morphine and their combination on bioenergetic function and susceptibility to oxidative stress of rat liver mitochondria". Life Sciences 92 24-26 (2013): 1157-1164. http://www.scopus.com/inward/record.url?eid=2-s2.0-84879416115&partnerID=MN8TOARS.
    Published • 10.1016/j.lfs.2013.04.016
  9. Cunha-Oliveira, T.; Silva, L.; Silva, A.M.; Moreno, A.J.; Oliveira, C.R.; Santos, M.S.. "Mitochondrial complex I dysfunction induced by cocaine and cocaine plus morphine in brain and liver mitochondria". Toxicology Letters 219 3 (2013): 298-306. http://www.scopus.com/inward/record.url?eid=2-s2.0-84877341189&partnerID=MN8TOARS.
    Published • 10.1016/j.toxlet.2013.03.025
Newsletter article
  1. Equipas de resposta à emergência do diagnóstico laboratorial da COVID 19 no INSA.. "O INSA e a resposta de emergência ao diagnóstico laboratorial da COVID 19 em Portugal .", Observações_Boletim Epidemiológico, 2020 número especial 12 , 2020, http://www.insa.min-saude.pt/category/informacao-e-cultura-cientifica/publicacoes/boletim-epidemiologico-observacoes-suplemento-12/.
  2. Nogueira, Célia; Silva, Lisbeth; Pereira, Cristina; Lopes, Altina; Encarnação, Marisa; Coutinho, Maria Francisca; Amaral, Olga; Alves, Sandra; Vilarinho, Laura. "DEScobrir, VENcer as Doenças rARas.", Boletim Epidemiológico Observações, 2019, http://www.insa.min-saude.pt/wp-content/uploads/2019/12/15.pdf.
  3. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. "Development of a next generation sequencing assay for a prompt molecular diagnosis of lysosomal storage disorders.", Boletim Epidemiológico Observações. 2018 maio-agosto, 2018, http://hdl.handle.net/10400.18/5589.
  4. Célia, Nogueira; Pereira, Cristina; Silva, Lisbeth; et al.. "Advances in the diagnosis of mitochondrial diseases by next generation sequencing.", Boletim Epidemiológico Observações. 2018 janeiro-abril., 2018, http://hdl.handle.net/10400.18/5546.

Intellectual property

Copyright registration
  1. 2015. "First genetic diagnostic test for all kidney disease and establishment of the unit of analysis of hereditary kidney disease NEFROCHUS.".
    Registered
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2018/06/05 Next generation sequencing: a golden tool in mitochondrial diseases. Cell Symposia. Multifaceted Mitochondria.
(San Diego, United States)
2018/03/17 Next Generation Sequencing and Lysosomal Dysfunction: Novel mutations associated with Neurodegenerative disorders. 14th International SPDM Symposium.
SPDM (Porto, Portugal)
2018/03/07 Bioinformatics pipelines used in NGS data analysis of mitochondrial disorders nuclear gene panel. Seminários Departamento de Genética Humana, Unidade de Investigação e Desenvolvimento.
INSA-DGH Porto (Porto, Portugal)
2017/11 Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing. 21ª Reunião Anual da Sociedade Portuguesa de Genética Humana (SPGH)
SPGH (Almada, Portugal)
2017/10/18 Diagnóstico das Doenças Mitocondriais por Sequenciação de Nova Geração. Sociedade Portuguesa de Pediatria.
Sociedade Portuguesa de Pediatria. (Portugal)
2017/03/18 Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine. 13th International Symposium of SPDM
SPDM
2017/02/17 Defeitos Genéticos das Doenças Mitocondriais: Abordagem por Sequenciação de Nova Geração. XI Congresso da SPNP
SPNP
2015/10/23 Strategic action in Galicia for polycystic kidney disease: creation of a Galician registry and genetic diagnosis as a measure of cost/efficiency prevention. 2nd Congress of the Galician Society of Nephrology.
Galician Society of Nephrology. (Ferrol, Spain)
2015/03/25 NEFROCHUS: First diagnostic/prognostic test for all hereditary kidney diseases. III Meeting of Young Researchers.
International Doctoral School, University of Santiago de Compostela. (Santiago de Compostela, Spain)
2014/11/21 NEFROCHUS: First diagnostic/prognostic test for all hereditary kidney diseases. 1st Congress of the Galician Society of Nephrology.
Galician Society of Nephrology. (Vigo, Spain)
2014/06/03 NEFROCHUS: First diagnostic/prognostic test for all hereditary kidney diseases. 2nd Conference "BiointegraSaúde" 2014.
INIBIC, IDIS e IBIV (Corunha, Spain)
2013/09/18 Rapid genetic/molecular testing for all hereditary kidney diseases. Weekly Seminars of the Institute of Health Research (IDIS).
IDIS (Santiago de Compostela, Spain)
2013/04/25 Identification of genetic factors responsible for vascular phenotype associated with polycystic kidney disease (PKD): genotype / phenotype correlation in ADPKD families. Conference "BiointegraSaúde" 2013
IBIV, INIBIC and IBIS (Santiago de Compostela, Spain)
2012/06/07 Rapid techniques for the prevention, diagnosis and treatment of renal polycystic disease (PKD): PKD-diagnostic test and cystogenic model of animal explant in vitro. Seminars of the Institute of Research in Health.
Center for Research in Molecular Medicine and Chronic Diseases of Santiago de Compostela. (Santiago de Compostela, Spain)
2012/04/26 Rapid methods of prevention, diagnosis and therapeutic treatment of polycystic kidney disease (PKD): PKD-diagnostic test and cystogenic model of animal explant in vitro. II Conference on Biosanitary Research.
(Santiago de Compostela, Spain)
2012/03/28 Bioenergetic function and exposure to oxidative stress in rat liver exposed to cocaine, morphine and their combination. V Conference on Biochemistry.
University of Trás-os-Montes and Alto Douro (Vila Real, Portugal)
2011/02/02 Effect of cocaine, morphine and its combination on mitochondrial bioenergetics of rat liver. XLI Annual Meeting of the Portuguese Society of Pharmacology.
Portuguese Society of Pharmacology. (Coimbra, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2011 - 2014 Formation of students in practices of the Higher Cycle of Pathological Anatomy and Cytology of I.E.S Lamas de Abade de Santiago de Compostela. Academic year 2011/2012; 2012/2013 and 2013/2014

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2023/05/04 - 2023/05/05 Poster Presentation "LINCE PROJECT: A RAPID DIAGNOSIS OF NEURONAL CEROID LIPOFUSCINOSES 1 AND 2. "
Congress
 17º Congresso da Sociedade Portuguesa de Neuropediatria.
Sociedade Portuguesa de Neuropediatria, Portugal
2023/03/29 - 2023/03/31 Poster Presentation "LINCE PROJECT: A RAPID DIAGNOSIS OF NEURONAL CEROID LIPOFUSCINOSES 1 AND 2. "
Symposium
 19º Simposio Internacional da Sociedade Portuguesa de Doenças Metabólicas
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2021/11/01 - 2021/11/22 SSIEM Travel Bursary 2021 to internship in Group of Mitochondrial Pathology and Neuromuscular DisordersVall d’Hebron Institut de Recerca (VHIR), Barcelona, Espanha.
Other
 SSIEM Travel Bursary 2021
Society for the Study of Inborn Errors of Metabolism, United Kingdom
2021/09/21 - 2021/09/24 Poster presentation ". “Molecular screening of mitochondrial disorders by NGS.” EMBO Workshop- Mitochondrial Homeostasis and Human Disease.
Workshop
 EMBO Workshop- Mitochondrial Homeostasis and Human Disease.
Organização Europeia de Biologia Molecular EMBO, Spain
2021/09/08 - 2021/09/10 Poster Presentation "“Phenotipic variability of mitochondrial disease caused by nuclear mutations in complex I.”
Symposium
 17th International Symposium of the Portuguese Society for Metabolic Disorders
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2020/02/03 - 2020/02/04 Post-graduate education Course "Looking forward for new therapies in Inherited Metabolic Diseases".
Other
 Looking forward for new therapies in Inherited Metabolic Diseases
Portuguese Society of Inherited Metabolic Diseases, Portugal
2019/10/28 - 2019/11/01 Cell culture basic course.
Other
 Cell culture basic course.
Portuguese School of Oncology do Porto, IPO- Porto, Portugal
2019/10/08 - 2019/10/08 NGS/WES - Genomic revolution in the clinical practice.
Other
 NGS/WES - Genomic revolution in the clinical practice.
Portuguese Society of Metabolic (SPDM) , Portugal
2019/04/12 - 2019/04/13 2nd Practical course on computational tools and bioinformatics for next-generation sequencing. Porto, Portugal.
Other
 2nd Practical course on computational tools and bioinformatics for next-generation sequencing.
Portuguese Society of Human Genetics, Portugal
2015/05/13 - 2015/05/16 4th Next Generation Sequencing Course. 31 hours. European Society of Human Genetics, Bertinoro, Italy.
Other
 4th Next Generation Sequencing Course. 31 hours. European Society of Human Genetics, Bertinoro, Italy.
European Society of Human Genetics, Austria
2013 - 2014 English course, level 5 (B1.e2). Academic Course 2013/2014.
Other
 English course, level 5 (B1.e2). Academic Course 2013/2014.
Center for Modern Languages, University of Santiago de Compostela, Spain
2012/06/06 - 2012/06/20 Single cell analysis: new strategies in biomedical OMICS. Summer University 2012.  
Other
 Single cell analysis: new strategies in biomedical OMICS. Summer University 2012.  
University of Santiago de Compostela, Spain
2012/02/27 - 2012/03/09 Experimental animals course: approval for the accomplishment of experimental procedures, category B, RD 1201/2005.
Other
 Experimental animals course: approval for the accomplishment of experimental procedures, category B, RD 1201/2005.
Faculty of Veterinary Medicine and Veterinary Clinic Rof Codina (Lugo), University of Santiago de Compostela, ECIMAT of the University of Vigo, Spain
2010 - 2011 Pre-Intermediate Level English Course (B1.1). Academic course 2010/2011.
Other
 Pre-Intermediate Level English Course (B1.1). Academic course 2010/2011.
Faculty of Letters, University of Coimbra, Portugal
Distinctions

Award

2017 Best Poster presentation award “Mitochondrial disorders: insights into diagnosis and management in the new era of genomic medicine” – 13th International Symposium of SPDM, 16 e 18 março 2017
Portuguese Society of Metabolic (SPDM) , Portugal
2013 Award for basic research in nephrology SEN
Spanish Society of Nephrology (SENEFRO), Spain

Other distinction

2016 Postdoctoral fellowship in the Project PTDC/DTP-PIC/2220/2014 - competition subject to evaluation
Foundation for Science and Technology (FCT), Portugal

National Institute of Health Dr. Ricardo Jorge - Human Genetics Department, Portugal
2011 I declined the Individual Doctoral Grant FCT 2011 (SFRH/BD/79014/2011)
Foundation for Science and Technology (FCT), Portugal
2011 Predoctoral Fellowship IDIS in competitive concurrence
Health Research Institute of Santiago de Compostela (IDIS), Spain