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Maria João Santos is a superior laboratory technician, since June 2007, at Laboratory of Mitochondrial BioMedicine and Theranostics (LBioMiT), Center for Neurosciences and Cell Biology, University of Coimbra, which is recognized as an entity certified since 2011 by NP EN ISO 9001: 2008, with registration number 2011 / CEP.3971 (entity certifying APCER). She performs genetic analyzes, integrated in the diagnostic tests of mitochondrial cytopathies, using up-to-date techniques, such as Next Generation Sequence. She has a degree in Biochemistry and a master's degree in Cellular and Molecular Biology, both in the University of Coimbra. She is a PhD student of the Doctoral Program in Health Sciences, at the Faculty of Medicine, University of Coimbra. In May 2009, she did a scientific internship abroad, to learn how to perform the quantification analysis of the mitochondrial genome, at the Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA. Then, she implemented this technique at the LBioMiT, allowing the identification of a syndrome characterized by a decrease of the mitochondrial DNA copy number, the depletion syndrome. She is particularly interested in this syndrome, especially in the genetic causes associated with it, many of which are still unknown. In February 2015 she took part in the Global Action Against Dementia European Young Leaders in London, where she represented Portugal. Since 2017 she has been working in her PhD projet entitled "Unravelling the mitochondrial genomics, proteomics and metabolomics impairments occurring in Leber's Hereditary Optic Neuropathy". Maria João Santos is co-author of 11 publications in peer reviewed journals and 41 papers in conference proceedings. She has 161 scientific communications, 113 of which are posters and 48 are oral presentations. In the last few years she has also participated in 3 research projects approved by the Foundation for Science and Technology and other 5 projects. h-index: 7; Citations: 165. [(Scopus) - 24/02/2024].
Read full resume ↓
Identification

Personal identification

Full name
Maria João Ferreira Canas dos Santos

Citation names

  • Santos, Maria João
  • Santos, M.J.

Author identifiers

Ciência ID
B411-7F7F-AE32
ORCID iD
0000-0002-4018-8787

Knowledge fields

  • Medical and Health Sciences - Medical Biotechnology - Gene-based Diagnostics and Therapeutic Interventions
  • Natural sciences - Biological Sciences - Molecular Biology
  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2014/09 - 2023
Ongoing
 Doctoral Program in Health Sciences (Doutoramento)
Major in Biomedical Sciences
Universidade de Coimbra Faculdade de Medicina, Portugal
"Unraveling the mitochondrial impairments and organelle stress occurring in Leber’s Hereditary Optic Neuropathy" (THESIS/DISSERTATION)
2006/10 - 2010/06/24
Concluded
 Master's degree in Cellular Biology (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Monitoring Kidney Transplantation using Real-Time PCR for Relative Gene Expression Analysis" (THESIS/DISSERTATION)
 Very Good
2001/09 - 2006/07
Concluded
 Biochemistry (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Monitoring Kidney Transplantation using Real-Time PCR for Relative Gene Expression Analysis" (THESIS/DISSERTATION)
 14 (out of 20)
Affiliation

Others

Category
Host institution 		Employer
2007/06/01 - Current Superior Research Technician CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2009/05/25 - 2009/06/10 Training in mtDNA copy number quantification by real-time PCR Baylor College of Medicine, United States
2006/11/01 - 2007/05/31 Scholarship technician CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2006/08/01 - 2006/10/31 Volunteer Hospitais da Universidade de Coimbra Centro de Histocompatibilidade do Centro, Portugal
Hospitais da Universidade de Coimbra Centro de Histocompatibilidade do Centro, Portugal
Projects

Contract

Designation Funders
2017/09 - Current From obesity to adisopathy: role of mitochondria. Epigenetic study.
NA
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
Ongoing
2022/03/19 - 2023/12/31 MitONOFF - malfunctions of the energy factory
fbr_oc2_01_universidade de coimbra
Other
Universidade de Coimbra, Portugal
 EEA Grants
2018/06/01 - 2022/05/31 Providing free of charge complete genetic tests to all Portuguese patients with a clinical and instrumental diagnosis of Optic Nerve Atrophy
NA
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Santhera Pharmaceuticals Schweiz AG
Ongoing
2015/04/01 - 2016/03/31 Unveiling intracellular organelle interaction with mitochondria in Leber Hereditary Optic Neuropathy: functional genomics approach.
SPDM Grant 2014
Researcher
CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
 Sociedade Portuguesa de Doenças Metabólicas
Concluded
2013/04/01 - 2015/08/31 Translational Bigenomics Investigation in Leber´s Hereditary Optic Neuropathy: Genotype-Phenotype Correlation
PTDC/DTP-EPI/0929/2012
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2012/01/01 - 2015/06/30 Neuropsychological Assessment and Dual Genome Investigation in Frontotemporal Dementia
PTDC/SAUEPI/121811/2010
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010/02/05 - 2013/02/04 Analysis of transcription deregulation in brain and peripheral Huntington’s disease models - influence of modulating histone deacetylases
PTDC/SAU-FCF/108056/2008
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2007/01/05 - 2008/01/04 Research of changes in MTND1 gene in Frontotemporal Dementia / Investigação de alterações no gene MTND1 na demência frontotemporal
Projecto GAI nº 19/07
Researcher
Universidade de Coimbra Faculdade de Medicina, Portugal
 Universidade de Coimbra
Concluded
Outputs

Publications

Book
  1. Grazina, M. As Avarias na Fábrica de Energia/Malfunctions of the energy factory. Coimbra, Portugal: Self-Published. 2023.
    Published • Assistant staff
Conference abstract
  1. Simões, Marta; Santos, Maria João; Martins, Sara; maria carmo macario; Durães, João; Diogo, Luisa; João Paulo F S Oliveira; José Carlos Ferreira; Grazina, Manuela. "Challenges in genetic diagnosis of mitochondrial diseases: what can functional genomics' studies do?". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), Figueira da Foz, 2024.
    In press
  2. Martins, Sara; Santos, Maria João; Simões, Marta; Jacinto, Sandra; Cristina Martins Halpern; Dupont, Juliette; Diogo, Luisa; Grazina, Manuela. "Diversities in Leigh syndrome associated to MT-ATP6 gene variants". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), Figueira da Foz, 2024.
    In press
  3. Manuela Grazina; Sara Martins; Santos, Maria João; Marta Simões; Carolina Caetano; Beatriz Neves; Sara Varela Amaral; Laurence A. Bindoff. "Mit.OnOff: A Science Communication Project for Public Awareness about Mitochondrial Cytopathies". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), Figueira da Foz, 2023.
    In press • 10.2174/1871530323666230914114434
  4. Simões, Marta; Santos, Maria João; Martins, Sara; Gomes, Célia; Durães, João; João Paulo F S Oliveira; José Carlos Ferreira; Grazina, Manuela. "57ASM - 179 | AddFun: Adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, Prague, 2023.
    Published
  5. Santos, Maria João; Simões, Marta; Martins, Sara; Durães, João; Sara Ferreira; Constança Santos; Diogo, Luisa; maria carmo macario; Grazina, Manuela. "57ASM - 177 | Mitochondrial genome deletions screening: Does next-generation sequencing solve it all?". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI,, Prague, 2023.
    Published
  6. Santos, Maria João; Martins, Sara; Simões, Marta; António Friande Pereira; Cristina Almeida; meira, dalia; Resendes, Gil; et al. "28 years of genetic screening for Leber’s Hereditary Optic Neuropathy at LBioMiT". Paper presented in 55th European Society of Human Genetics (ESHG) Conference, Glasgow, 2023.
    Published
  7. Martins, Sara; Santos, Maria João; Simões, Marta; Teixeira, Márcia; Diogo, Luisa; maria carmo macario; LHON Task Force; Grazina, Manuela. ""Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants At LBioMiT: 27 Years Of Screening And GenEye24". Paper presented in 65th Portuguese Congress of Ophthalmology (65 Congresso Portugues de Oftalmologia), Coimbra, 2022.
    Published
  8. Grazina, M; Simões, M.; Bacalhau, M.; Ribeiro, C.; Santos, Maria João; Macário, M.C.; Diogo, L.; et al. "Functional genomics' studies are mandatory for clarifying pathogenicity of novel genetic variants detected by NGS in OXPHOS disorders.". Paper presented in 52nd European Society of Human Genetics (ESHG) Conference, Gothenburg, 2018.
    Published
  9. Domingues, A.P.; Ribeiro, C.; Santos, Maria João; Pratas, J.; Belo, A.; Moura, P.; Grazina, M. "The role of DEFB1 polymorphisms in premature rupture of membranes before 34 weeks". Paper presented in Journal of Perinatal Medicine, 2015.
    Published
  10. Ribeiro, C.; Pratas, J.; Santos, Maria João; Simões, M.; Mendes, C.; Macário, M.C.; Diogo, L.; et al. "Dual genome investigation in Leber Hereditary Optic Neuropathy". Paper presented in European Journal of Human Genetics, 2015.
    Published
  11. Tavares, R.; Santana, I.; Gaspar, R.; Santos, Maria João; Mendes, C.; Duro, D.; Simões, M.; Luís, D.; Grazina, M. "MT-RNRs genes sequencing: genotype correlation with biochemical and clinical phenotypes.". Paper presented in Sinapse, 2015.
    Published
  12. Ribeiro, C.; Guiomar, P.; Pratas, J.; Bacalhau, M.; Vaz, M.; Simões, M.; Mendes, C.; et al. "Leber hereditary optic neuropathy plus - more than just a mitochondrial DNA mutation". Paper presented in Sinapse, 2015.
    Published
  13. Gaspar, R.; Santana, I.; Abrantes, J.; Mendes, C.; Monteiro, R.; Santos, Maria João; Duro, D.; et al. "Complex V investigation in frontotemporal lobar degeneration: molecular and biochemical analysis". Paper presented in J Inherit Metab Dis, 2014.
    Published
  14. Guiomar, P.; Vaz, M.; Bacalhau, Mafalda; Mendes, C.; Simões, M.; Pratas, J.; Santos, Maria João; et al. "Molecular and cellular analysis in an unusual LHON case". Paper presented in J Inherit Metab Dis, 2014.
    Published
  15. Macario, M.C.; Duque, C.; Topuz, S.; Tomas, J.; Gouveia, A.R.; Rebelo, O.; Ribeiro, C.; et al. "Mitochondrial disorders associated with mitochondrial DNA polymerase gamma mutations in a neurologic adult population.". Paper presented in J Inherit Metab Dis, 2014.
    Published
  16. Oliveira, I.; Santana, I.; Santos, Maria João; Duro, D.; Gaspar, R.; Luís, D.; Grazina, M. "Mitochondrial genome encoding tRNAs sequence in Frontotemporal Lobar Degeneration". Paper presented in European Journal of Human Genetics, 2014.
    Published
  17. Gaspar, R.; Santana, I.; Abrantes, J.; Mendes, C.; Santos, Maria João; Duro, D.; Simões, M.; Luís, D.; Grazina, M.. "Mitochondrial DNA variants coding for Complex V contributing to frontotemporal lobar degeneration". Paper presented in Sinapse, 2014.
    Published
Conference poster
  1. Martins, Sara; Santos, Maria João; Simões, Marta; Gomes, Célia; Varela Amaral, Sara; Grazina, Manuela. "19 years of rare SinEnergies: Science, Communication, Awareness, Fundraising". Paper presented in IV MAD - Metabolism, Aging and Disease Meeting 2024, 2024.
  2. Martins, Sara; Santos, Maria João; Simões, Marta; António Friande Pereira; Cristina Almeida; meira, dalia; Resendes, Gil; et al. "The Road So Far and beyond: 28 years of Leber’s Hereditary Optic Neuropathy at LBioMiT - past, present and future". Paper presented in MitoPorto 2023, 2023.
  3. Martins, Sara; Santos, Maria João; Teixeira, Márcia; Diogo, Luisa; maria carmo macario; João Pedro Marques; Pedro Fonseca; Grazina, Manuela. "A 24h screening test for TOP-3 LHON pathogenic sequence variants to be used in clinical setting and treatment assessment". Paper presented in CIBB meeting, 2019.
  4. Santos, Maria João. "Mitochondrial protein import genes involvement in Leber’s hereditary optic neuropathy (LHON)". Paper presented in 15th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2019.
  5. Simões, M.; Bacalhau, Mafalda; Fonseca, M.I.; Ribeiro, C.; Santos, Maria João; Macário, M.C.; Diogo, L.; Grazina, M. "Assembly of OXPHOS system in patients with respiratory chain disease". Paper presented in 15th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2019.
  6. Bacalhau, Mafalda; Simões, M.; Pratas, J.; Diogo, L.; Garcia, P.; Vaz, M.; Santos, Maria João; et al. "Mitochondrial dysfunction in a lysosomal storage disorder: a case of spinocerebellar ataxia". Paper presented in International Symposium MitoPorto: advances in mitochondrial research, 2017.
  7. Fonseca, M.I.; Bacalhau, Mafalda; Ribeiro, C.; Santos, Maria João; Macário, M.C.; Fonseca, P.; Diogo, L.; Simões, M.; Grazina, M. "Investigation of OXPHOS complexes' assembly in four LHON patients: Heterogeneity of genetic background". Paper presented in 20th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), 2016.
  8. Santos, D.; Santos, Maria João; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Alonso, I.; Sousa, A.; Grazina, M; Lemos, C.. "Mitochondrial DNA copy number and new insights on biological mechanisms of Familial Amyloid Polyneuropathy". Paper presented in XV International Symposium on Amyloidosis, 2016.
  9. Gomes, C.A.; Simões, M.; Ribeiro, C.; Macário, M.C.; Mendes, C.; Pratas, J.; Santos, Maria João; et al. "Investigation of TFAM gene involvement in LHON-plus: the phantom deletion story". Paper presented in XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2016.
  10. Ramos, A.; Ribeiro, C.; Simões, M.; Santos, Maria João; Grazina, M. "The challenges of bioinformatics for NGS genetic data analysis and Sanger sequencing remaining: laboratory implications and clinical significance of mutations". Paper presented in XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2016.
  11. Ribeiro, C.; Pratas, J.; Santos, Maria João; Simões, M.; Mendes, C.; Macario, M.C.; Diogo, L.; et al. "Leber Hereditary Optic Neuropathy: biochemical and genetic investigation in 10 portuguese patients.". Paper presented in XI International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2015.
  12. Barreto, P.; Pratas, J.; Mendes, C.; Santos, Maria João; Simões, M.; Martins, C.; Duarte, J.; et al. "Hearing loss: mitochondrial genetics etiology and implications in aminoglycosids use". Paper presented in 4th In4med - Congresso médico-científico organizado pelo núcleo de estudantes de Medicina da Associação Académica de Coimbra (NEM/AAC) - "Viver (d)a Medicina", 2015.
  13. Gomes, C.A.; Ribeiro, C.; Simões, M.; Mendes, C.; Pratas, J.; Santos, Maria João; Silva, E.; et al. "Genetic investigation of mitochondrial transcription factor a (TFAM) in an unusual Leber's hereditary optic neuropathy (LHON-plus case)". Paper presented in XII CNC Annual Meeting, 2014.
  14. Domingues, A.P.; Ribeiro, C.; Santos, Maria João; Pratas, J.; Belo, A.; Moura, P.; Grazina, M. "The role of DEFB1 polymorphisms in premature rupture of membranes before 34 weeks". Paper presented in XII CNC Annual Meeting, 2014.
  15. Bacalhau, Mafalda; Pratas, J.; Santos, Maria João; Vaz, M.; Simões, M.; Mendes, C.; Rego, C.; et al. "Establishing the pathogenicity of mitochondrial DNA mutations: a cell and molecular biology approach". Paper presented in XII CNC Annual Meeting, 2014.
  16. Monteiro, N.; Ribeiro, J.C.; Santos, Maria João; Grazina, M; Pereira, P.; Girao, Henrique; Silva, E.; Silva, F.. "MYO7A transcript analysis in an Usher syndrome type 1 patient with heterozygous compound mutations". Paper presented in VI Annual Meeting of IBILI, 2014.
  17. Simões, M.; Mendes, C.; Pratas, J.; Ribeiro, C.; Veríssimo, C.; Santos, Maria João; Diogo, L.; et al. "Biochemical genetics heterogeneity in Leigh Syndrome: a case series of 40 patients". Paper presented in X International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2014.
  18. Guiomar, P.; Vaz, M.; Bacalhau, Mafalda; Mendes, C.; Simões, M.; Pratas, J.; Santos, Maria João; et al. "Functional genomics analysis of an unusual LHON case - preliminary results". Paper presented in X International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2014.
  19. Bacalhau, Mafalda; Pratas, J.; Santos, Maria João; Ribeiro, C.; Vaz, M.; Mendes, C.; Simões, M.; et al. "Establishing the pathogenecity of a novel mitochondrial DNA mutation". Paper presented in X International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), 2014.
    10.1063/1.4904621
Journal article
  1. Martins, S.; Santos, M.J.; Teixeira, M.; Diogo, L.; do Carmo Macário, M.; Marques, J.P.; Fonseca, P.; Grazina, M.. "GenEye24: Novel rapid screening test for the top-3 Leber's Hereditary Optic Neuropathy pathogenic sequence variants". Mitochondrion 69 (2023): 64-70. http://www.scopus.com/inward/record.url?eid=2-s2.0-85147667721&partnerID=MN8TOARS.
    10.1016/j.mito.2023.01.006
  2. Jacinto, Sandra; Guerreiro, Patrícia; de Oliveira, Rita Machado; Cunha-Oliveira, Teresa; Santos, Maria João; Grazina, Manuela; Rego, Ana Cristina; Outeiro, Tiago F.. "MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile". Frontiers in Cellular Neuroscience 15 641264 (2021): http://dx.doi.org/10.3389/fncel.2021.641264.
    Published • 10.3389/fncel.2021.641264
  3. Bacalhau, M.; Simões, M.; Rocha, M.C.; Hardy, S.A.; Vincent, A.E.; Durães, J.; Macário, M.C.; et al. "Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant". Neuromuscular Disorders 28 4 (2018): 350-360. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041560601&partnerID=MN8TOARS.
    Published • 10.1016/j.nmd.2017.11.006
  4. Santos, D.; Santos, M.J.; Alves-Ferreira, M.; Coelho, T.; Sequeiros, J.; Alonso, I.; Oliveira, P.; et al. "MtDNA copy number associated with age of onset in familial amyloid polyneuropathy". Journal of Neurology, Neurosurgery and Psychiatry 89 3 (2018): 300-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85042883375&partnerID=MN8TOARS.
    Published • 10.1136/jnnp-2017-316657
  5. Bacalhau, M.; Pratas, J.; Simões, M.; Mendes, C.; Ribeiro, C.; Santos, M.J.; Diogo, L.; Macário, M.C.; Grazina, M.. "Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants"". European Journal of Medical Genetics (2017): http://www.scopus.com/inward/record.url?eid=2-s2.0-85027531111&partnerID=MN8TOARS.
    Published • 10.1016/j.ejmg.2017.08.008
  6. Bacalhau, M.; Pratas, J.; Simões, M.; Mendes, C.; Ribeiro, C.; Santos, M.J.; Diogo, L.; Macário, M.C.; Grazina, M.. "In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes". European Journal of Medical Genetics 60 3 (2017): 172-177. http://www.scopus.com/inward/record.url?eid=2-s2.0-85008450521&partnerID=MN8TOARS.
    Published • 10.1016/j.ejmg.2016.12.009
  7. Ribeiro, C.; do Carmo Macário, M.; Viegas, A.T.; Pratas, J.; Santos, M.J.; Simões, M.; Mendes, C.; et al. "Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency". Mitochondrion 31 (2016): 84-88. http://www.scopus.com/inward/record.url?eid=2-s2.0-84994711178&partnerID=MN8TOARS.
    Published • 10.1016/j.mito.2016.10.004
  8. Gaspar, R.; Santana, I.; Mendes, C.; Fernandes, A.S.; Duro, D.; Simões, M.; Luís, D.; Santos, M.J.; Grazina, M.. "Genetic variation of MT-ND genes in frontotemporal lobar degeneration: Biochemical phenotype-genotype correlation". Neurodegenerative Diseases 15 2 (2015): 70-80. http://www.scopus.com/inward/record.url?eid=2-s2.0-84928938610&partnerID=MN8TOARS.
    Published • 10.1159/000380766
  9. Montero, Raquel; Grazina, Manuela; López-Gallardo, Ester; Montoya, Julio; Briones, Paz; Navarro-Sastre, Aleix; Land, John M.; et al. "Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes". Mitochondrion 13 4 (2013): 337-341. http://dx.doi.org/10.1016/j.mito.2013.04.001.
    Published • 10.1016/j.mito.2013.04.001
  10. Tavares, M.V.; Santos, M.J.; Domingues, A.P.; Pratas, J.; Mendes, C.; Simões, M.; Moura, P.; Diogo, L.; Grazina, M.. "Antenatal manifestations of mitochondrial disorders". Journal of Inherited Metabolic Disease 36 5 (2013): 805-811. http://www.scopus.com/inward/record.url?eid=2-s2.0-84884350140&partnerID=MN8TOARS.
    Published • 10.1007/s10545-012-9567-x
  11. Ferreira, I.L.; Nascimento, M.V.; Ribeiro, M.; Almeida, S.; Cardoso, S.M.; Grazina, M.; Pratas, J.; et al. "Mitochondrial-dependent apoptosis in Huntington's disease human cybrids". Experimental Neurology 222 2 (2010): 243-255. http://www.scopus.com/inward/record.url?eid=2-s2.0-77549084450&partnerID=MN8TOARS.
    Published • 10.1016/j.expneurol.2010.01.002
Thesis / Dissertation
  1. Santos, Maria João. "Monitoring Kidney Transplantation using Real-Time PCR for Relative Gene Expression Analysis". Master, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 2010.
  2. Santos, Maria João. "Monitoring Kidney Transplantation using Real-Time PCR for Relative Gene Expression Analysis". Degree, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 2006.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/06/12 Mitochondrial genome deletions screening – Does next- generation sequencing solve it all? 57TH ANNUAL SCIENTIFIC MEETING ESCI
European Society of Clinical Investigation (Prague, Czech Republic)
2023/05/12 Selected Flashtalks: The Road So Far and beyond: 28 years of Leber’s Hereditary Optic Neuropathy at LBioMiT - past, present and future MitoPorto 2023
ICBAS, FFUP (Porto, Portugal)
2023/05/05 Read all about it: Mit.OnOff – Alerta para as avarias das fábricas de energia! SciComPt 2023
Rede SciComPt (Bragança, Portugal)
2023/05/05 18 anos de (Sin)Energias raras: ciência, comunicação, sensibilização, angariação SciComPt 2023
Rede SciComPt (Bragança, Portugal)
2023/03/31 The hole in the Whole: Mitochondrial DNA deletions screening 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Portuguese Society for Metabolic Disorders (SPDM) (Figueira da Foz, Portugal)
2022/12/02 Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants at LBioMiT: 27 Years of Screening And GenEye24 65th Portuguese Congress of Ophthalmology (65 Congresso Portugues de Oftalmologia)
Sociedade Portuguesa de Oftalmologia (Coimbra, Portugal)
2022/05/05 Evaluation of endoplasmic reticulum (ER) stress-mediated apoptosis in LHON patient primary fibroblasts cells 18th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Portuguese Society for Metabolic Disorders (SPDM) (Peniche, Portugal)
2022/05/05 Genetic testing in LHON: classic approaches vs. a novel 24h test for top-3 variants 18th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Portuguese Society for Metabolic Disorders (SPDM) (Peniche, Portugal)
2021/02/28 Rare Energies: See Beyond / Energias Raras: Ver Mais Além Rare Energies: See Beyond / Energias Raras: Ver Mais Além
Laboratory of Mitochondrial BioMedicine and Theranostics, Center for Neuroscience and Cell Biology (CNC) (Coimbra, Portugal)
2020/11/06 Challenges in LHON diagnostics / Desafios no diagnóstico genético de LHON VIII Neurogenetics Meeting: Mitochondrial Diseases: and when power fails?
IBMC Institute for Molecular and Cell Biology (Online, Portugal)
2019/03/16 Mitochondrial protein import genes involvement in Leber’s hereditary optic neuropathy (LHON) XV International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Coimbra, Portugal)
2019/03/16 Assembly of OXPHOS system in patients with respiratory chain disease. XV International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Coimbra, Portugal)
2018/10/22 Mitochondrial DNA: When the Circle Goes Bad MEETING MITOCHONDRIAL DNA AND DERIVED PEPTIDES IN HEALTH AND DISEASE
(Coimbra, Portugal)
2018/09/26 Advanced Functional Genomics Studies: a step forward in genetics. 5th meeting of users of NGS ILLUMINA platforms
ILC (Coimbra, Portugal)
2017/10/03 Challenges of NGS implementation for genetic screening of MRC disorders. 4th meeting of users of NGS ILLUMINA platforms
ILC (Porto, Portugal)
2017/06/08 Investigation of OPA1 gene in Leber’s Hereditary Optic Neuropathy XLI Jornadas Portuguesas de Genética
(Aveiro, Portugal)
2017/03/17 Report of a novel mitochondrial ATP8 gene mutation in a patient with severe optic neuropathy: functional demonstration of pathogenicity XIII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Évora, Portugal)
2016/03/18 Investigation of TFAM gene involvement in LHON-plus: the phantom deletion story XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Coimbra, Portugal)
2016/03/18 Evaluation of m.7486G>A pathogenicity using a functional genomics’ approach. XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Coimbra, Portugal)
2015/12/18 Functional genomics analysis to gathering evidence for m.7486G>A mutation pathogenicity XIII CNC Annual Meeting
CNC (Coimbra, Portugal)
2015/05/30 MT-RNRs genes sequencing: genotype correlation with biochemical and clinical phenotypes 29ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências (GEECD)
GEECD (Aveiro, Portugal)
2015/05/21 Leber hereditary optic neuropathy plus - more than just a mitochondrial DNA mutation Fórum de Neurologia
(Aveiro, Portugal)
2015/04/19 Genética e Doença Cardiovascular - Quando é útil o teste genético para o diagnóstico e estratificação de risco? XXXVI Congresso Português de Cardiologia
Sociedade Portuguesa de Caridologia (Albufeira, Portugal)
2015/03/20 Mitochondrial diseases linked to mutations of the POLG gene XI International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Porto, Portugal)
2015/01/22 Establishing the pathogenicity of mitochondrial DNA mutations: a cell and molecular biology approach Annual Meeting PhD Program in Health Sciences
Faculdade de Medicina da Universidade de Coimbra (Coimbra, Portugal)
2014/06/27 Analysis of MTRNR genes in Frontotemporal Lobar Degeneration 28ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências (GEECD)
GEECD (Aveiro, Portugal)
2014/06/27 Mitochondrial genome variants influencing protein translation in frontotemporal lobar degeneration 28ª Reunião do Grupo de Estudo de Envelhecimento Cerebral e Demências (GEECD)
GEECD (Aveiro, Portugal)
2014/05/15 Mitochondrial DNA variants coding for Complex V contributing to frontotemporal lobar degeneration Fórum de Neurologia
(Coimbra, Portugal)
2014/03/20 Identification of a novel SURF1 gene mutation in Leigh syndrome X International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
SPDM (Cascais, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/09 - 2023/09 Spot inPicNic com Saúde (SciComm event at FMUC) Preparing the events of our lab. (2023/09/30) (2023/09/30 - 2023/09/30)
Festival (Other)
 Universidade de Coimbra Faculdade de Medicina, Portugal
2023/05 - 2023/09 Spot in Europeans Research Night Coimbra. Preparing the events of our lab (2023/09/29 - 2023/09/29) (2023/09/29 - 2023/09/29)
Festival (Co-organisor)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2022/03 - 2023/05 Book release event. Visitation of partner from Norway to Coimbra. (2023/05/08 - 2023/05/08) (2023/05/08 - 2023/05/08)
Other
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2023/01 - 2023/02 Rare Disease Day 2023. Spot at Faculty of Medicine at UC to raise awareness. (2023/02/28 - 2023/02/28) (2023/02/28 - 2023/02/28)
Other (Co-organisor)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2021/02/28 - 2021/02/28 Rare Energies: See Beyond / Energias Raras: Ver Mais Além Online Lecturers: Professor Manuela Grazina, Dr Dália Meira, Maria João Santos. With testimonies of rare disease patients. (2021/02/28 - 2021/02/28) (2021/02/28 - 2021/02/28)
Round table (Member of the Organising Committee)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2020/10/11 - 2020/10/11 The blindness of a composer and the vision of science in rare disease / A cegueira de um compositor e a visão na ciência de uma doença rara (event of UC730 Prize) Event for LHON awareness with commented concert; experience for audience with LHON glasses (vision loss simulation); lecturers Professor Manuela Grazina, Dr Miguel Raimundo, Sara Martins, patient testemony (2020/10/08 - 2020/10/08) (2020/10/11 - 2020/10/11)
Conference (Member of the Organising Committee)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2019/09 - 2019/10 COLMusic "Food VS Environment" - event partnership LBioMiT/OCC. Lecturers: Emeritus Prof Jorge Paiva; Commentators: Prof. Dr Manuela Grazina, Full Prof Helena Freitas. https://orquestraclassicadocentro.org/comusic-encontros-musica-eciencia/ (2019/10/25 - 2019/10/25) (2019/10/25 - 2019/10/25)
Conference (Co-organisor)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal
2019/06 - 2019/07 COLMusic "Science and Economy" - event partnership LBioMiT/OCC. Lecturers: Ana Corte-Real; Óscar Lourenço; Vitor Raposo; Fernando Catarino; Manuela Grazina. https://orquestraclassicadocentro.org/colmusic/ (2019/07/12 - 2019/07/12) (2019/07/12 - 2019/07/12)
Conference (Co-organisor)
 CNC - Center for neuroscience and cell biology, University of Coimbra, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2024/01/29 - 2024/01/30 Meeting of CNC's research area (Metabolism, Aging and Disease).
Meeting
 IV MAD - Metabolism, Aging and Disease Meeting 2024
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
2023/12/18 - 2023/12/18 LHON, The Update from Optic Nerve Network
Seminar
 LHON Forum 2023
Chiesi España SA, Spain
2023/06/10 - 2023/06/13 Conference of ESHG, Hybrid Conference
Congress
 European Human Genetics Conference 2023
European Society of Human Genetics, Austria
2023/03/30 - 2023/03/31 Conference about metabolic diseases
Symposium
 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2023/01/19 - 2023/01/19 A Beginner's Guide to Next Generation Sequencing: Principles & Recent Developments
Seminar
 A Beginner's Guide to Next Generation Sequencing: Principles & Recent Developments
Novogene Co Ltd, China
2023/01/17 - 2023/01/17 A Twist of NGS, Powered by SeqOne
Workshop
 A Twist of NGS, Powered by SeqOne
2023/01/12 - 2023/01/13 3rd Retreat of CIBB's Metabolism, Aging and Disease Area
Meeting
 3rd Retreat of CIBB's Metabolism, Aging and Disease Area
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
2022/12/19 - 2022/12/19 CIBB Meeting 2022
Meeting
 CIBB Meeting 2022
Universidade de Coimbra Centro de Inovação em Biomedicina e Biotecnologia, Portugal
2022/11/28 - 2022/11/28 LHON forum 2022 from Optic Nerve Network
Seminar
 LHON forum 2022
Chiesi España SA, Spain
2022/11/17 - 2022/11/19 Conference about genetics
Meeting
 26th Annual Meeting of SPGH
Sociedade Portuguesa de Genética Humana, Portugal
2022/10/20 - 2022/10/20 A Beginner's guide to DNA Sequencing: Recent advances
Seminar
 A Beginner's guide to DNA Sequencing: Recent advances
Novogene Co Ltd, China
2022/09/05 - 2022/09/05 Workshop on technical and best practices for preparing EIC Pathfinder applications
Workshop
 Workshop on technical and best practices for preparing EIC Pathfinder applications
Universidade de Coimbra, Portugal
2022/07/22 - 2022/07/22 This webinar is an international initiative designed to spread the knowledge and awareness regarding the pathology, the diagnosis (especially early diagnosis), and therapy of Leber's Hereditary Optic Neuropathy (LHON).
Seminar
 Webinar on LHON 2022 Edition
2022/05/12 - 2022/05/13 The main objective of the course is to provide trainees with the latest knowledge in the fields of ethics, standards, good practices in genetic counseling, Portuguese legislation and regulations in the field of clinical and laboratory genetics, including ethical, regulatory and societal aspects of biobanks.
Other
 Training Course on Ethical and Social Aspects in Clinical Laboratory Genetics | Curso de Formação em Aspetos Éticos e Sociais em Genética Clínica Laboratorial
Universidade de Coimbra Faculdade de Medicina, Portugal
2022/05/05 - 2022/05/06 18th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Symposium
 18th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2022/04/21 - 2022/04/21 WEBINAR on Bioinformatic Analysis of DNA-seq results by Novogene
Seminar
 A Begineer's Guide to DNA-seq Bioinformatic Analysis
Novogene Co Ltd, China
2021/12/20 - 2021/12/20 CIBB Meeting 2021
Meeting
 CIBB Meeting 2021
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/12/09 - 2021/12/09 LHON Forum 2021
Seminar
 LHON Forum 2021
Chiesi España SA, Spain
2021/11/17 - 2021/11/18 2nd MAD Retreat
Meeting
 Science Out of the Box - MAD (Metabolism, aging and Disease) Group Retreat 2021
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/08/28 - 2021/08/31 European Human Genetics Virtual Conference 2021
Congress
 European Human Genetics Virtual Conference 2021
European Society of Human Genetics, Austria
2021/07/02 - 2021/07/23 VIII Cell Culture and Tissue Training Course 2021
Other
 VIII Cell Culture and Tissue Training Course 2021
Universidade de Coimbra Faculdade de Medicina, Portugal
2020/06/06 - 2020/06/09 European Human Genetics Conference 2020 (Online event)
Congress
 European Human Genetics Conference 2020
2019/12/19 - 2019/12/20 CIBB Meeting 2019
Congress
 CIBB Meeting 2019
Center for Innovative Biomedicine and Biotechnology, Portugal
2019/11/08 - 2019/11/08 NGS/WES – Genomic revolution in the clinical practice
Workshop
 NGS/WES – Genomic revolution in the clinical practice
2019/10/09 - 2019/10/09 6ª Reunião de Utilizadores de Plataformas NGS / 6th meeting of users of NGS ILLUMINA platforms
Meeting
 6th meeting of users of NGS ILLUMINA platforms
2019/05/21 - 2019/05/21 EU General Data Protection Regulation (GDPR/RGPD) - training session
Seminar
 EU General Data Protection Regulation (GDPR/RGPD) - training session
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2019/03/20 - 2019/03/22 S5 System training
Workshop
 S5 System training
Universidade de Coimbra Faculdade de Medicina, Portugal
2019/03/14 - 2019/03/16 XV International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Congress
 XV International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
2018/10/12 - 2018/10/12 How to write a winning abstract
Workshop
 How to write a winning abstract
Santhera Pharmaceuticals Schweiz AG, Switzerland
2018/09/27 - 2018/09/27 Genomics Day
Meeting
 Genomics Day
2018/09/26 - 2018/09/27 5ª Reunião de Utilizadores de Plataformas NGS / 5th meeting of users of NGS ILLUMINA platforms
Meeting
 5th meeting of users of NGS ILLUMINA platforms
2018/05/22 - 2018/05/22 Gestão de Resíduos Hospitalares Perigosos - Triagem e Acondicionamento / Management of Hazardous Hospital Waste - Sorting and Packaging
Seminar
 Management of Hazardous Hospital Waste - Sorting and Packaging
2017/12/21 - 2017/12/21 2nd Meeting on Biomedical Research @UC
Meeting
 2nd Meeting on Biomedical Research @UC
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2017/09/20 - 2017/12/13 Plataforma de Gestão da Qualidade UeBe.Q / Quality Management Platform UeBe.Q
Workshop
 Quality Management Platform UeBe.Q
2017/10/02 - 2017/10/03 4ª Reunião de Utilizadores de Plataformas NGS / 4th meeting of users of NGS ILLUMINA platforms
Meeting
 4th meeting of users of NGS ILLUMINA platforms
2017/09/27 - 2017/09/27 Ação de Formação sobre Gestão Integrada de Resíduos Hospitalares / Training on Integrated Management of Hospital Waste
Seminar
 Training on Integrated Management of Hospital Waste
2017/09/21 - 2017/09/22 Bring Your Own Data To Link Rare Disease Registries
Workshop
 Bring Your Own Data To Link Rare Disease Registries
2017/09/18 - 2017/09/20 5th International Summer School on Rare Disease and Orphan Drug Registries
Workshop
 5th International Summer School on Rare Disease and Orphan Drug Registries
2017/04/28 - 2017/04/29 I Congresso de Investigação em Medicina da Escolas Médicas Portuguesas / I Congress of the Portuguese Medical Schools
Congress
 I Congress of the Portuguese Medical Schools
Universidade de Coimbra, Portugal
2016/12/19 - 2016/12/20 1st Meeting on Biomedical Research @UC
Meeting
 1st Meeting on Biomedical Research @UC
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2016/11/29 - 2016/11/30 3ª Reunião de utilizadores Illumina / 3rd meeting of users of NGS ILLUMINA platforms
Meeting
 3rd meeting of users of NGS ILLUMINA platforms
2016/06/14 - 2016/06/14 Formação para a realização de ensaios de NGS / Training to perform NGS tests
Workshop
 Training to perform NGS tests
2016/06/07 - 2016/06/07 Simpósio sobre genética e proteção de dados pessoais / Symposium on genetics and personal data protection
Symposium
 Symposium on genetics and personal data protection
2016/04/21 - 2016/05/10 Requisitos da Norma NP EN ISO 9001:2015 / Requirements of NP EN ISO 9001:2015 Standard
Seminar
 Requirements of NP EN ISO 9001:2015 Standard
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2016/04/07 - 2016/04/07 Let's talk about CRISP
Seminar
 Let's talk about CRISP
2016/03/17 - 2016/03/18 XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
Congress
 XII International Symposium of the Portuguese Society for Metabolic Disorders (SPDM)
2015/12/17 - 2015/12/18 XIII CNC Annual Meeting
Meeting
 XIII CNC Annual Meeting
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2015/10/23 - 2015/10/23 Formação de Saúde e Segurança no trabalho (SST) / Health and Safety Training
Seminar
 Health and Safety Training
2014/12/15 - 2014/12/16 XII CNC Annual Meeting
Meeting
 XII CNC Annual Meeting
2014/11/20 - 2014/11/20 Info Day Nacional – Oportunidades e Desafios à Investigação & Inovação em Saúde, Alterações Demográficas e Bem-estar
Symposium
 Info Day Nacional – Oportunidades e Desafios à Investigação & Inovação em Saúde, Alterações Demográficas e Bem-estar
2014/05/31 - 2014/06/03 European Human Genetics Conference 2014
Congress
 European Human Genetics Conference 2014
2013/12/17 - 2013/12/17 Neuropatia Ótica Hereditária de Leber - update / Leber hereditary optic neuropathy - update
Seminar
 Leber hereditary optic neuropathy - update

Association member

Society Organization name Role
2023/12 - Current European Society of Clinical Investigation (ESCI) ESCI member

Mentoring / Tutoring

Topic Student name
2019/09/02 - 2019/09/06 Project Ciência Viva Highschool student
2019/07/01 - 2019/07/31 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Nirmala
2018/09/03 - 2018/09/28 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Emilijia Welker
2018/07/02 - 2018/07/27 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Mireia Santamaría Sáez-Torres
2017/07/03 - 2017/07/28 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Julia Armengol
2017/07/03 - 2017/07/28 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Andrea Castillo
2016/09/05 - 2016/09/30 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Christina Noceti
2016/07/04 - 2016/07/27 Mentoring of LORE student (4 weeks long Research Exchange of Med Student) Man Wong
Distinctions

Award

2023 2023 ESCI - POSTER PRESENTATION AWARD
European Society for Clinical Investigation, Netherlands

Other distinction

2017 Honorable Mention for Best Oral Presentation
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2008 Best presentation (clinics)