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My scientific journey began in 1997 with a Biology degree from the Faculty of Sciences, University of Porto, where I graduated top of my class (18/20). In 2001-2002, I completed the Graduate Program in Areas of Basic and Applied Biology (GABBA) at ICBAS, University of Porto, under the supervision of Prof. Maria de Sousa. In late 2002, I moved to the University of Cambridge for my PhD and a short postdoc in Mammalian Developmental Epigenetics under Prof. Anne Ferguson-Smith's supervision. During this period, I published nine articles, four as first author. In 2008, I joined Prof. Edith Heard’s lab at Institut Curie, France, where I focused on Molecular Epigenetics. My work there resulted in nine peer-reviewed publications, including three as first author and one as senior and corresponding author, in high-impact journals such as Cell, Molecular Cell, Nature Structural & Molecular Biology, and EMBO Reports. In 2015, I became a Senior Researcher in Prof. Maria do Carmo Fonseca’s lab at Instituto de Medicina Molecular (iMM), supported by an Investigator FCT (iFCT) assistant research position, later transitioning to an individual CEEC Assistant Researcher contract in 2019. During this time, I secured five project grants as Principal Investigator, and published nine articles, five as senior author, in journals such as Stem Cell Research, Human Molecular Genetics, and Nucleic Acids Research. I supervised 12 MSc students and co-supervised two PhD students. In September 2018, I also became an Invited Assistant Professor at the Faculty of Medicine, University of Lisbon. Since 2022, I have led the "Stem Cell Epigenetics" Lab at iBB/IST, University of Lisbon, supported by a second CEEC Assistant Researcher contract. My research integrates epigenetics and stem cell biology, focusing on three main areas: the mechanisms of epigenetic regulation of gene expression in stem cells, the epigenetic fidelity of stem cell models, and stem cell-based disease modeling of human developmental disorders. I currently lead two ongoing projects as Principal Investigator, funded by FCT and the Angelman Syndrome Alliance, and one as co-PI, funded by the Foundation for Prader-Willi Research. Additionally, I am a Work Package Leader Substitute in the EURAS consortium, funded by the European Commission. Since I become a lab head, I have published ten articles, including senior author papers in Nature Communications, Stem Cell Research Human Cell and Aging Biology. I have (co)-supervised 3 PhD and 7 MSc student who successfully defended their theses. My current research group consists of one senior researcher, two postdoctoral researchers, four PhD students, and three MSc students. Since April 2024, I am also an Assistant Professor in Molecular and Cell Biology of the Department of Bioengineering (DBE) at IST, University of Lisbon. In summary, I have published 37 peer-reviewed articles, with an h-index of 19 and 2,612 citations, including ten as first author and sixteen as senior and corresponding author. I have secured funding through nine project grants as PI or co-PI, three of which are currently ongoing. Throughout my career, I have supervised or co-supervised 23 MSc and 7 PhD students. With a strong foundation in epigenetics and stem cell biology, I remain committed to advancing our understanding of gene regulation and cellular reprogramming, while mentoring the next generation of scientists and driving impactful research in the field.
Identificação

Identificação pessoal

Nome completo
Simão José Teixeira da Rocha

Nomes de citação

  • da Rocha, Simão T.

Identificadores de autor

Ciência ID
1310-8F0F-1387
ORCID iD
0000-0002-9683-7942

Endereços de correio eletrónico

  • simao.rocha@tecnico.ulisboa.pt (Profissional)
  • simaoteixeiradarocha@medicina.ulisboa.pt (Profissional)
  • simaoroc@gmail.com (Pessoal)

Telefones

Telefone
  • 217999411 Ext.: 47320 (Profissional)

Moradas

  • Av. Rovisco Pais , 1049-001, Lisboa, Lisboa, Portugal (Profissional)
  • Rua Tomás da Anunciação 161, 4ºESQ, 1350-326, Lisboa, Lisboa, Portugal (Pessoal)

Websites

Domínios de atuação

  • Ciências Médicas e da Saúde - Medicina Básica

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português (Idioma materno)
Inglês Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Francês Utilizador independente (B2) Utilizador independente (B2) Utilizador independente (B2) Utilizador independente (B2) Utilizador independente (B2)
Formação
Grau Classificação
2002/10/03 - 2007/05/12
Concluído
PhD in Biology (Doutoramento)
University of Cambridge Department of Physiology Development and Neuroscience, Reino Unido
"The role of Delta-like 1 (Dlk1) in mouse development and metabolism " (TESE/DISSERTAÇÃO)
Approved
2001/11/05 - 2002/06/30
Concluído
GABBA program (Graduation in Basic and Applied Biology) (Curso de doutoramento (conclusão de unidades curriculares))
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Very Good
1997/09/15 - 2001/07/15
Concluído
Biology (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"6q chromosome deletions in gastric cancer" (TESE/DISSERTAÇÃO)
18 (out of 20)
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento
Empregador
2022/11/15 - Atual Investigador principal (carreira) (Investigação) Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal
Universidade de Lisboa Instituto de Bioengenharia e Biociências, Portugal
2015/04/01 - 2022/11/14 Investigador (Investigação) Instituto de Medicina Molecular, Portugal
Instituto de Medicina Molecular, Portugal
2008/04/01 - 2014/12/31 Pós-doutorado (Investigação) Institut Curie, França
Institut Curie, França
2008/05/15 - 2008/08/15 Pós-doutorado (Investigação) University of Copenhagen Biotech Research and Innovation Centre, Dinamarca
University of Copenhagen Biotech Research and Innovation Centre, Dinamarca
2007/05/14 - 2008/03/31 Pós-doutorado (Investigação) University of Cambridge Department of Physiology Development and Neuroscience, Reino Unido
University of Cambridge Department of Physiology Development and Neuroscience, Reino Unido

Docência no Ensino Superior

Categoria Profissional
Instituição de acolhimento
Empregador
2024/04/01 - Atual Professor Auxiliar (Docente Universitário) Universidade de Lisboa Instituto Superior Técnico, Portugal
Universidade de Lisboa Instituto Superior Técnico, Portugal
2019/09/01 - 2023/08/31 Professor Auxiliar Convidado (Docente Universitário) Universidade de Lisboa Faculdade de Medicina, Portugal
Universidade de Lisboa Faculdade de Medicina, Portugal
Projetos

Bolsa

Designação Financiadores
2023/06/01 - Atual Role of microbial metabolites in regulating hypothalamic pathways involved in feeding behavior
1029673
Co-Investigador Responsável (Co-IR)
Universidade de Lisboa Instituto de Bioengenharia e Biociências, Portugal
Foundation for Prader-Willi Research
Em curso
2022/09/15 - Atual Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome
Research Grants on Angelman Syndrome
Investigador responsável
Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal
Angelman Syndrome Alliance
Em curso
2023/03/06 - 2026/03/05 Estados pluripotentes transitórios como novos reservatórios de antigénios específicos contra o cancro
2022.01199.PTDC
Investigador
Universidade de Aveiro, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2023/01/01 - 2025/12/31 Dissecting the molecular mechanisms of X-chromosome inactivation using human embryonic stem cells
2022.01532.PTDC
Investigador responsável
Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal
Fundação para a Ciência e a Tecnologia
Em curso
2020/10/01 - 2024/03/31 RNA mis-splicing in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy
HR20-00322
Co-Investigador Responsável (Co-IR)
Instituto de Medicina Molecular, Portugal
CaixaForum Barcelona
Em curso
2021/01/01 - 2023/12/31 X-Chromosome Inactivation in Systemic Lupus Erythematosus
EXPL/MED-OUT/1517/2021
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2018 - 2022/06/30 Deciphering the epigenetic aging barriers for iPSC reprogramming
PTDC/BIA-MOL/29320/2017
Investigador responsável
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2020/03/01 - 2022/03/31 Exploring new therapeutic strategies for Angelman syndrome: A disease modelling approach based on 3D cerebellar organoids derived from patient iPSCs
Pedro Maria José de Mello Costa Duarte Fellowship 2019
Investigador responsável
Fundação Amélia de Mello, Portugal
Fundação Amélia de Mello
Concluído
2018/04/20 - 2021/04/19 The role of long non-coding RNAs on the molecular circuitry and metabolic adaptation of breast cancer.
PTDC/BTM-TEC/28534/2017
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2019/01/02 - 2019/11/30 Monitoring the stability of X-chromosome inactivation during neuronal differentiation of human female iPSCs
20190026
Orientador
Instituto de Medicina Molecular, Portugal
GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC)
Concluído
2016/06/01 - 2019/11/30 The non-coding transcriptome in stemness and aging
PTDC/BIM-MED/0032/2014
Investigador
Universidade de Aveiro, Portugal

Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2016/06 - 2019/06 Comprehensive study of the dynamics of epigenetic processes involving lncRNAs during iPSC reprogramming
PTDC/BEX-BCM/2612/2014 IC&DT
Investigador responsável
Ministério da Ciência Tecnologia e Ensino Superior
2018/01/02 - 2018/11/30 How X-chromosome inactivation instability in human female iPSCs could affect disease modelling of X-linked disorders
20180038
Orientador
Instituto de Medicina Molecular, Portugal
GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC)
Concluído
2018/01/02 - 2018/11/30 From mice to humans: a creation of a human model to assess the relation between UBE3A and mitochondrial activity in Angelman Syndrome patients
20180037
Orientador
Instituto de Medicina Molecular, Portugal
GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC)
Concluído
2017/01/02 - 2017/11/30 Genetic dissection of conserved RNA modules of human XIST lncRNA implicated in X-inactivation using iPSCs
20170011
Orientador
Instituto de Medicina Molecular, Portugal
GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC)
Concluído
2015/09/01 - 2017/08/31 Exploring new therapeutic strategies for Angelman syndrome: targeting the UBE3A antisense long non-coding RNA in neurons derived from Angelman syndrome patients
PMJMCD 2015
Investigador responsável
Instituto de Medicina Molecular, Portugal
Fundação Amélia de Mello
Concluído

Projeto

Designação Financiadores
2022/11/15 - 2024/03/31 Rescuing defective X-chromosome inactivation in induced pluripotent stem cells for translational and clinical research
2021.00660.CEECIND
Investigador
Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2019/05/16 - 2022/11/14 Correcting imprinting defects in induced pluripotent stem cells (iPSCs)
CEECUIND/01234/2017
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2015/04/01 - 2019/05/14 Exploring the interplay between non-coding RNAs and chromatin modifying complexes in the establishment of defined chromatin states
IF/00242/2014/CP1236/CT0009
Investigador
Instituto de Medicina Molecular, Portugal
Fundação para a Ciência e a Tecnologia
Concluído
2009/07/01 - 2011/08/31 CHROMATIN DYNAMICS DURING X-INACTIVATION: ASSESSING THE ROLE OF DIFFERENT CHROMATIN CHANGES IN THE LOSS OF GENE ACTIVITY AND THE GAIN OF GENE SILENCING
237675
Bolseiro de Pós-Doutoramento
Institut Curie, França
EU Framework Programme for Research and Innovation Marie Sklodowska-Curie Actions
Concluído
2008/05/19 - 2008/08/19 The role of H3K4 demethylases in X-chromosome inactivation
ASTF 138-2008
Bolseiro de Pós-Doutoramento
University of Copenhagen Biotech Research and Innovation Centre, Dinamarca
Gesellschaft zur Förderung der Lebenswissenschaften Heidelberg GmbH
Concluído
2008/05 - 2008/08 The role of H3K4 demethylases in X-chromosome inactivation
ASTF 138-2008
Gesellschaft zur Förderung der Lebenswissenschaften Heidelberg GmbH
2001/11/01 - 2005/10/31 The role of Delta-like 1 (Dlk1) in mouse development and metabolism
SFRH/BD/5808/2001
Bolseiro de Doutoramento
University of Cambridge Department of Physiology Development and Neuroscience, Reino Unido
Fundação para a Ciência e a Tecnologia
Concluído
Produções

Publicações

Artigo em boletim informativo
  1. Maranga, Carina; Vieira, Adriana A.; Bekman, Evguenia; da Rocha, Simão T.. "Ensaios clínicos em Angelman... e em Portugal?", Newsletter trimestral da Angel, 2020, https://mcusercontent.com/c1201a436f7baec28794d7be1/files/85b64f55-3c95-4997-a30f-ceca8eeac0b0/Newsletter_14.pdf.
Artigo em revista
  1. Raposo, Ana Cláudia; Caldas, Paulo; Joana Jeremias; Arez, Maria; Cazaux Mateus, Francisca; Pedro Barbosa; Rui Sousa-Luís; et al. "Gene reactivation upon erosion of X-chromosome inactivation in female hiPSCs is predictable yet variable and persist through differentiation". Stem Cell Reports (2025):
    Aceite para publicação
  2. Jager, Joanna; Ribeiro, Marta; Furtado, Marta; Carvalho, Teresa; Syrris, Petros; Lopes, Luis R.; Elliott, Perry M.; et al. "Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy". Stem Cell Research 81 (2024): 103582. https://doi.org/10.1016/j.scr.2024.103582.
    10.1016/j.scr.2024.103582
  3. Adriana A. Vieira; Inês Almada-Correia; Joana Inácio; Patrícia Costa-Reis; S. T. da Rocha. "Female-bias in systemic lupus erythematosus: How much is the X chromosome to blame?". Biology of Sex Differences (2024): https://doi.org/10.1186/s13293-024-00650-y.
    10.1186/s13293-024-00650-y
  4. Eckersley-Maslin, Melanie A.; Teixeira da Rocha, Simão; Mancino, Samantha; Seneviratne, Janith; Mupo, Annalisa; Krueger, Felix; Oxley, David. "Exploring the Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aged Brain". Aging Biology 2 1 (2024): 20240030. https://doi.org/10.59368/agingbio.20240030.
    10.59368/agingbio.20240030
  5. Marta Ribeiro; Joanna Jager; Marta Furtado; Teresa Carvalho; Joaquim M. S. Cabral; Dulce Brito; Maria Carmo-Fonseca; Sandra Martins; Simão Teixeira da Rocha. "Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation". Human Cell (2024): https://doi.org/10.1007/s13577-024-01073-y.
    10.1007/s13577-024-01073-y
  6. Ribeiro, Marta; Jager, Joanna; Furtado, Marta; Carvalho, Teresa; Cabral, Joaquim M.S.; Brito, Dulce; Carmo-Fonseca, Maria; Martins, Sandra; da Rocha, Simão Teixeira. "Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations". Stem Cell Research 76 (2024): 103362. http://dx.doi.org/10.1016/j.scr.2024.103362.
    10.1016/j.scr.2024.103362
  7. Ribeiro, Marta; Martins, Sandra; Carvalho, Teresa; Furtado, Marta; Cabral, Joaquim Sampaio; Brito, Dulce; Carmo-Fonseca, Maria; da Rocha, Simao Teixeira. "Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation". Stem Cell Research (2024): https://publons.com/wos-op/publon/65851693/.
    10.1016/J.SCR.2023.103282
  8. Camões dos Santos, João; Appleton, Carolina; Cazaux Mateus, Francisca; Covas, Rita; Bekman, Evguenia P.; da Rocha, Simão T.. Autor correspondente: da Rocha, Simão T.. "Stem cell models of Angelman syndrome". Frontiers in Cell and Developmental Biology 11 (2023): https://doi.org/10.3389/fcell.2023.1274040.
    Publicado
  9. da Rocha, Simao Teixeira; Lin, Shau-Ping; Youngson, Neil A.. "Editorial: Legacies of epigenetic perturbations". Frontiers in Cell and Developmental Biology (2023): https://publons.com/wos-op/publon/62686378/.
    10.3389/FCELL.2023.1228115
  10. dos Santos, Joao Camoes; Appleton, Carolina; Mateus, Francisca Cazaux; Covas, Rita; Bekman, Evguenia Pavlovna; da Rocha, Simao Teixeira. "Stem cell models of Angelman syndrome". Frontiers in Cell and Developmental Biology (2023): https://publons.com/wos-op/publon/63967348/.
    10.3389/FCELL.2023.1274040
  11. Arez, Maria; Eckersley-Maslin, Melanie; Klobucar, Tajda; Lopes, Joao von Gilsa; Krueger, Felix; Mupo, Annalisa; Raposo, Ana Claudia; et al. "Imprinting fidelity in mouse iPSCs depends on sex of donor cell and medium formulation". Nature Communications (2022): https://publons.com/wos-op/publon/54180959/.
    10.1038/S41467-022-33013-5
  12. Maranga, Carina; Pereira, Carolina; Roposa, Ana Claudia; Vieira, Adriana; Duarte, Sofia P.; Bekman, Evguenia; Milagre, Ines; da Rocha, Simao Teixeira. "Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13". Stem Cell Research (2022): https://publons.com/wos-op/publon/54684002/.
    10.1016/J.SCR.2022.102757
  13. Raposo, Ana Cláudia; Casanova, Miguel; Gendrel, Anne-Valerie; da Rocha, Simão T.. "The tandem repeat modules of Xist lncRNA: a swiss army knife for the control of X-chromosome inactivation". Biochemical Society Transactions 49 6 (2021): 2549-2560. http://dx.doi.org/10.1042/bst20210253.
    Publicado • 10.1042/bst20210253
  14. Silva, Teresa P.; Pereira, Carolina A.; Raposo, Ana Cláudia; Oliveira, Ana Rita; Arez, Maria; Cabral, Joaquim M.S.; Milagre, Inês; Carmo-Fonseca, Maria; Rocha, Simão Teixeira da. "Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation". Stem Cell Research 53 (2021): 102364. http://dx.doi.org/10.1016/j.scr.2021.102364.
    10.1016/j.scr.2021.102364
  15. Silva, Teresa P.; Pereira, Carolina A.; Oliveira, Ana Rita; Raposo, Ana Cláudia; Arez, Maria; Cabral, Joaquim M.S.; Milagre, Inês; Carmo-Fonseca, Maria; da Rocha, Simão T.. "Generation and characterization of induced pluripotent stem cells from a family carrying the BRCA1 mutation c.3612delA". Stem Cell Research 52 (2021): 102242. http://dx.doi.org/10.1016/j.scr.2021.102242.
    10.1016/j.scr.2021.102242
  16. Tjalsma, Sjoerd J D; Hori, Mayako; Sato, Yuko; Bousard, Aurelie; Ohi, Akito; Raposo, Ana Cláudia; Roensch, Julia; et al. "H4K20me1 and H3K27me3 are concurrently loaded onto the inactive X chromosome but dispensable for inducing gene silencing". EMBO reports (2021): http://dx.doi.org/10.15252/embr.202051989.
    10.15252/embr.202051989
  17. Klobucar, Tajda; Kreibich, Elisa; Krueger, Felix; Arez, Maria; Pólvora-Brandão, Duarte; von Meyenn, Ferdinand; da Rocha, Simão Teixeira; Eckersley-Maslin, Melanie. "IMPLICON: an ultra-deep sequencing method to uncover DNA methylation at imprinted regions (* co-last author)". Nucleic Acids Research 48 16 (2020): e92-e92. http://dx.doi.org/10.1093/nar/gkaa567.
    10.1093/nar/gkaa567
  18. Carina Maranga; Tiago G. Fernandes; Evguenia Bekman; da Rocha, Simão T.. "Angelman syndrome: a journey through the brain". The FEBS Journal (2020): https://doi.org/10.1111/febs.15258.
    10.1111/febs.15258
  19. Tjalsma, S. J. D.; Hori, M.; Sato, Y.; Bousard, A.; Ohi, A.; Raposo, A. C.; Roensch, J.; et al. "Tracking H3K27me3 and H4K20me1 during XCI reveals similarities in enrichment dynamics". BioRxiv (2020): https://publons.com/wos-op/publon/46790830/.
    10.1101/2020.08.06.228346
  20. Simão Teixeira da Rocha; Anne-Valerie Gendrel. "The influence of DNA methylation on monoallelic expression". Essays in Biochemistry 63 6 (2019): 663-676. https://doi.org/10.1042/EBC20190034.
    10.1042/EBC20190034
  21. Bousard, Aurélie; Raposo, Ana Cláudia; Zylicz, Jan Jakub; Pires, Vanessa Borges; Gil, Cláudia; Chang, Howard Y; Heard, Edith; da Rocha, Simão Teixeira. "The role of Xist -mediated Polycomb recruitment in the initiation of X-chromosome inactivation". EMBO reports 20 10 (2019): http://dx.doi.org/10.15252/embr.201948019.
    10.15252/embr.201948019
  22. Zylicz, Jan Jakub; Bousard, Aurélie; Žumer, Kristina; Dossin, Francois; Mohammad, Eusra; da Rocha, Simão Teixeira; Schwalb, Björn; et al. "The Implication of Early Chromatin Changes in X Chromosome Inactivation". Cell 176 1-2 (2019): 182-197.e23. http://dx.doi.org/10.1016/j.cell.2018.11.041.
    10.1016/j.cell.2018.11.041
  23. Sousa-Franco, António; Rebelo, Kenny; da Rocha, Simão Teixeira; Bernardes de Jesus, Bruno. "LncRNAs regulating stemness in aging". Aging Cell 18 1 (2018): e12870. http://dx.doi.org/10.1111/acel.12870.
    10.1111/acel.12870
  24. Pólvora-Brandão, Duarte; Joaquim, Mariana; Aprile, Domenico; Raposo, Ana Cláudia; Pereira de Almeida, Luís; Duarte, Sofia T; da Rocha, Simão T. "Loss of hierarchical imprinting regulation at the Prader–Willi/Angelman syndrome locus in human iPSCs". Human Molecular Genetics (2018): http://dx.doi.org/10.1093/hmg/ddy274.
    10.1093/hmg/ddy274
  25. Simão T da Rocha; Edith Heard. "Novel players in X inactivation: insights into Xist-mediated gene silencing and chromosome conformation". Nature Structural & Molecular Biology 24 3 (2017): 197-204. https://doi.org/10.1038%2Fnsmb.3370.
    10.1038/nsmb.3370
  26. Ci Chu; Qiangfeng Cliff Zhang; Simão Teixeira da Rocha; Ryan A. Flynn; Maheetha Bharadwaj; J. Mauro Calabrese; Terry Magnuson; Edith Heard; Howard Y. Chang. "Systematic Discovery of Xist RNA Binding Proteins". Cell 161 2 (2015): 404-416. https://doi.org/10.1016%2Fj.cell.2015.03.025.
    10.1016/j.cell.2015.03.025
  27. Serena Sanulli; Neil Justin; Simao T. da Rocha; Nicolas Servant; Steve J. Gamblin; Edith Heard; Raphaël Margueron. "Jarid2 Methylation via the PRC2 Complex Regulates H3K27me3 Deposition during Cell Differentiation". Molecular Cell 57 5 (2015): 769-783. https://doi.org/10.1016%2Fj.molcel.2014.12.020.
    10.1016/j.molcel.2014.12.020
  28. Marika Charalambous; Simao Teixeira Da Rocha; Elizabeth Jane Radford; Gema Medina-Gomez; Scott Curran; Scarlett B. Pinnock; Sacri R. Ferrón; Antonio Vidal-Puig; Anne C. Ferguson-Smith. "DLK1/PREF1 regulates nutrient metabolism and protects from steatosis". Proceedings of the National Academy of Sciences 111 45 (2014): 16088-16093. https://doi.org/10.1073%2Fpnas.1406119111.
    10.1073/pnas.1406119111
  29. Simão Teixeira da Rocha; Valentina Boeva; Martin Escamilla-Del-Arenal; Katia Ancelin; Camille Granier; Neuza Reis Matias; Serena Sanulli; et al. "Jarid2 Is Implicated in the Initial Xist-Induced Targeting of PRC2 to the Inactive X Chromosome". Molecular Cell 53 2 (2014): 301-316. https://doi.org/10.1016%2Fj.molcel.2014.01.002.
    10.1016/j.molcel.2014.01.002
  30. Charalambous, Marika; da Rocha, Simao; Radford, Elizabeth J.; Ferguson-Smith, Anne C.. "DLK1/PREF1 Regulates Nutrient Metabolism and Protects from Steatosis By Elevating Pituitary Growth Hormone Secretion". Endocrine Reviews (2014): https://publons.com/wos-op/publon/35570782/.
  31. M. Escamilla-Del-Arenal; S. T. da Rocha; C. G. Spruijt; O. Masui; O. Renaud; A. H. Smits; R. Margueron; M. Vermeulen; E. Heard. "Cdyl, a New Partner of the Inactive X Chromosome and Potential Reader of H3K27me3 and H3K9me2". Molecular and Cellular Biology 33 24 (2013): 5005-5020. https://doi.org/10.1128%2Fmcb.00866-13.
    10.1128/mcb.00866-13
  32. M. Charalambous; S. T. da Rocha; A. Hernandez; A. C. Ferguson-Smith. "Perturbations to the IGF1 growth pathway and adult energy homeostasis following disruption of mouse chromosome 12 imprinting". Acta Physiologica 210 1 (2013): 174-187. https://doi.org/10.1111%2Fapha.12160.
    10.1111/apha.12160
  33. Marika Charalambous; Sacramento R. Ferron; Simao T. da Rocha; Andrew J. Murray; Timothy Rowland; Mitsuteru Ito; Karin Schuster-Gossler; Arturo Hernandez; Anne C. Ferguson-Smith. "Imprinted Gene Dosage Is Critical for the Transition to Independent Life". Cell Metabolism 15 2 (2012): 209-221. https://doi.org/10.1016%2Fj.cmet.2012.01.006.
    10.1016/j.cmet.2012.01.006
  34. Martin Escamilla-Del-Arenal; Simao Teixeira da Rocha; Edith Heard. "Evolutionary diversity and developmental regulation of X-chromosome inactivation". Human Genetics 130 2 (2011): 307-327. https://doi.org/10.1007%2Fs00439-011-1029-2.
    10.1007/s00439-011-1029-2
  35. Charalambous, M.; da Rocha, S. T.; Ferron, S.; Rowland, T.; Ito, M.; Schuster-Gossler, K.; Hernandez, A.; Smith, Ferguson A. C.. "Imprinted gene dosage is critical for the transition to independent life". Chromosome Research (2011): https://publons.com/wos-op/publon/26481239/.
  36. Charalambous, M.; Da Rocha, S. T.; Rowland, T.; Ferron, S.; Ito, M.; Radford, E.; Schuster-Gossler, K.; Hernandez, A.; Ferguson-Smith, A.. "Impaired thermogenesis and persistent hypothyroidism caused by altered dosage of imprinted genes". Genetics Research (2010): https://publons.com/wos-op/publon/7601136/.
  37. Simao Teixeira da Rocha; Marika Charalambous; Shau-Ping Lin; Isabel Gutteridge; Yoko Ito; Dionne Gray; Wendy Dean; Anne C. Ferguson-Smith; Wolf Reik. "Gene Dosage Effects of the Imprinted Delta-Like Homologue 1 (Dlk1/Pref1) in Development: Implications for the Evolution of Imprinting". PLoS Genetics 5 2 (2009): e1000392-e1000392. https://doi.org/10.1371%2Fjournal.pgen.1000392.
    10.1371/journal.pgen.1000392
  38. Simao Teixeira da Rocha; Carol A. Edwards; Mitsuteru Ito; Tsutomu Ogata; Anne C. Ferguson-Smith. "Genomic imprinting at the mammalian Dlk1-Dio3 domain". Trends in Genetics 24 6 (2008): 306-316. https://doi.org/10.1016%2Fj.tig.2008.03.011.
    10.1016/j.tig.2008.03.011
  39. Simão T. da Rocha; Maxine Tevendale; Edward Knowles; Shuji Takada; Marie Watkins; Anne C. Ferguson-Smith. "Restricted co-expression of Dlk1 and the reciprocally imprinted non-coding RNA, Gtl2: Implications for cis-acting control". Developmental Biology 306 2 (2007): 810-823. https://doi.org/10.1016%2Fj.ydbio.2007.02.043.
    10.1016/j.ydbio.2007.02.043
  40. Marika Charalambous; Simão Teixeira da Rocha; Anne C Ferguson-Smith. "Genomic imprinting, growth control and the allocation of nutritional resources: consequences for postnatal life". Current Opinion in Endocrinology, Diabetes and Obesity 14 1 (2007): 3-12. https://doi.org/10.1097%2Fmed.0b013e328013daa2.
    10.1097/med.0b013e328013daa2
  41. S.-P. Lin; P. Coan; S. T. da Rocha; H. Seitz; J. Cavaille; P.-W. Teng; S. Takada; A. C. Ferguson-Smith. "Differential regulation of imprinting in the murine embryo and placenta by the Dlk1-Dio3 imprinting control region". Development 134 2 (2007): 417-426. https://doi.org/10.1242%2Fdev.02726.
    10.1242/dev.02726
  42. Da Rocha, Simao Teixeira; Charalambous, M.; Medina-Gomez, G.; Angiolini, C.; Vidal-Puig, A. J.; Ferguson-Smith, A. C.. "Postnatal metabolic consequences of prenatal overexpression of Dlk1/Pref1 in mouse". Genetics Research (2007): https://publons.com/wos-op/publon/7601073/.
  43. Simao Teixeira da Rocha; Anne C. Ferguson-Smith. "Genomic imprinting". Current Biology 14 16 (2004): R646-R649. https://doi.org/10.1016%2Fj.cub.2004.08.007.
    10.1016/j.cub.2004.08.007
  44. Nara de Matos Granja; Raquel Soares; da Rocha, Simão T.; Joana Paredes; Adhemar Longatto Filho; Ven¿ncio Avancini Alves; Elizabeth Wiley; Fernando C. Schmitt; Carlos Bedrossian. "Evaluation of breast cancer metastases in pleural effusions by molecular biology techniques". Diagnostic Cytopathology 27 4 (2002): 210-213. https://doi.org/10.1002%2Fdc.10171.
    10.1002/dc.10171
Capítulo de livro
  1. Maranga, Carina; Vieira, Adriana; Bekman, Evguenia P.; da Rocha, Simão T.. "Chapter 9: Induced pluripotent stem cells for modeling Angelman syndrome". In iPSCs for Modeling Central Nervous System Disorders. Elsevier, 2021.
    Publicado
Entrada de enciclopédia
  1. Pólvora Brandão, Duarte; da Rocha, Simão T. "Genomic Imprinting at the Transcriptional Level". In eLS. John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9780470015902.a0005686.pub3.
    10.1002/9780470015902.a0005686.pub3
  2. Simão Teixeira da Rocha; Edith Heard. "Genomic Imprinting at the Transcriptional Level". In eLS, 2011.
    10.1002/9780470015902.a0005686.pub2
Poster em conferência
  1. Cazaux Mateus, Francisca; Camões dos Santos, João; Arez, Maria; Bekman, Evguenia; da Rocha, Simão T.. "Establishing an Induced Pluripotent Stem Cell Model of Angelman Syndrome Caused by Paternal Uniparental Disomy of Chromosome 15". Trabalho apresentado em BioManufacturing Without Borders 2024, 2024.
  2. Camões dos Santos, João; Cazaux Mateus, Francisca; Arez, Maria; Bekman, Evguenia P.; da Rocha, Simão T.. Autor correspondente: da Rocha, Simão T.. "A Novel Stem Cell Toolkit to Advance Therapeutics in Angelman Syndrome". Trabalho apresentado em 8th ASA Scientific Meeting, 2024.
  3. Arez, Maria; Caldas, Paulo; Sansone, Melissa; Oxley, David; da Rocha, Simão T.. "How do imprints cope during reprogramming of female and male human iPSCs?". Trabalho apresentado em ISSCR 2024 Annual Meeting, 2024.
  4. Camões dos Santos, João; Cazaux Mateus, Francisca; Arez, Maria; Bekman, Evguenia P.; da Rocha, Simão T.. Autor correspondente: da Rocha, Simão T.. "Stem Cell Toolkit to Advance Therapeutics in Angelman Syndrome". Trabalho apresentado em 2024 ISSCR Annual Meeting, 2024.
  5. Cazaux Mateus, Francisca; Camões dos Santos, João; Arez, Maria; Bekman, Evguenia; da Rocha, Simão T.. "A novel Stem Cell Model for Angelman Syndrome caused by Paternal Uniparental Disomy of Chromosome 15". Trabalho apresentado em IBB Meeting 2023, 2023.
  6. Cazaux Mateus, Francisca; Camões dos Santos, João; Arez, Maria; Bekman, Evguenia; da Rocha, Simão T.. "Stem Cell-Based Disease Modeling Of Angelman Syndrome Caused by Paternal Uniparental Disomy for Chromosome 15". Trabalho apresentado em SPCE-ETRS Joint Annual Meeting 2023, 2023.
  7. Nunes, Ana Catarina; Laura Dias; Miguel Casanova; da Rocha, Simão T.. "Regulation of X-Chromosome inactivation in human female embryonic stem cells". Trabalho apresentado em ETRS & SPCE-TC Joint Meeting, 2023.
  8. da Rocha, Simão T.. "Between active and inactive: a tale of the eroded X (Xe) in female human pluripotent stem cells". Trabalho apresentado em EMBO Workshop on X-chromosome inactivation: new insights on its 60th anniversary, 2023.
  9. Arez, Maria; Gouveia, Maria; Raposo, Ana Cláudia; Krueger, Felix; Mupo, Annalisa; Eckersley-Maslin, Melanie; da Rocha, Simão T.. "Why is genomic imprinting dysregulated during reprogramming of iPSCs?". Trabalho apresentado em Genomic Imprinting 2023, 2023.
  10. Arez, Maria; Eckersley-Maslin, Melanie; Klobucar, Tajda; von Gilsa Lopes, João; Krueger, Felix; Mupo, Annalisa; Raposo, Ana Cláudia; et al. "Sex of donor cell and medium formulation as predictors of imprinting disruption in mouse iPSCs". Trabalho apresentado em 6th Max Planck Epigenetics Meeting 2022, 2022.
  11. da Rocha, Simão T.; Arez, Maria; Eckersey-Maslin, Melanie ; Klobucar, Tajda; Lopes, João Von Gilsa; Krueger, Felix; Raposo, Ana Cláudia; et al. "Strategies to avoid imprinting defects in induced pluripotent stem cells.". Trabalho apresentado em ISSCR 2022 Annual Meeting - International Society for Stem Cell Research,, 2022.
  12. da Rocha, Simão T.; Maranga, Carina (7811-C66B-F64C); Ana Cláudia Raposo; Vieira, Adriana; Arez, Maria; Gomes, Alípio; Dias, Laura; Casanova. Miguel; Bekman, Evguenia P.. "A personalized stem cell toolkit for modeling human disorders". Trabalho apresentado em 12th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies, 2022.
  13. Maranga, Carina; Silva, Teresa P.; Vaz, Sandra H.; Cabral, Joaquim M.S; da Rocha, Simão T.; Fernandes, Tiago G.; Bekman, Evguenia. "Modeling Angelman Syndrome with human induced pluripotent stem cell-derived cerebellar organoids". Trabalho apresentado em Vienna Biocenter PhD Symposium 2021 'Building Bridges', 2021.
  14. da Rocha, Simão T.; Arez, Maria; Eskersley-Maslin, Melanie; Klobucar, Tajda; João von Gilsa Lopes; Krueger, Felix; Ana Cláudia Raposo; Gendrel, Anne-Valerie; Bernades de Jesus, Bruno. "IMPLICON reveals the predictors of imprinting defects in mouse iPSCs". Trabalho apresentado em Virtual EMBL Conference on Epigenetics and Chromatin, 2021.
  15. Maranga, Carina; Vieira, Adriana A; Fernandes, Tiago G.; Cabral, Joaquim M. S.; da Rocha, Simão T.; Bekman, Evguenia P.. "Brain-in-a-dish approach for studying Angelman Syndrome". Trabalho apresentado em Neuroepigenetics: From Cells to Behaviour and Disease Virtual EMBO Workshop, 2020.
  16. Pereira da Silva, Teresa; da Rocha, Simão T.; Milagre, INÊS; Pereira, Carolina; Cabral, Joaquim S; Carmo-Fonseca, Maria. "iPSC-derived mammary organoids as a model to study the onset of malignant transformation triggered by BRCA mutations". Trabalho apresentado em EMBO Symposium on Organoids: Modelling Organ Development and Disease in 3D Culture, 2020.
  17. Maranga, Carina; Silva, Teresa P.; Fernandes, Tiago G.; da Rocha, Simão T.; Bekman, Evguenia P.; Cabral, Joaquim M. S.. "hiPSC-derived cerebellar organoids to model Angelman Syndrome". Trabalho apresentado em Organoids: Modelling Organ Development and Disease in 3D culture, Virtual EMBO Conference, 2020.
  18. Vieira, Adriana A.; Maranga, Carina; Gomes, Ana; Bekman, Evguenia; da Rocha, Simão T.. "Modeling of Angelman Syndrome using the Neural Commitment of Patient-Specific iPSCs". Trabalho apresentado em Innovate Competition ¿ AstraZeneca Foundation, 2020.
  19. da Rocha, Simão T.; Pereira, Carolina; Ferreira, Catarina; Bak-Gordon P; Milagre, INÊS; Carmo-Fonseca M. "Generation of patient-derived iPSCs for disease modelling". Trabalho apresentado em EATRIS Annual Meeting, 2020.
  20. Arez, Maria; Eckersley-Maslin, Melanie; Von Gilsa, João; GENDREL, ANNE-VALERIE; Raposo, Ana; Bernardes de Jesus, Bruno; da Rocha, Simão T.. "Comprehensive Evaluation of Genomic Imprinting Stability in Mouse iPSCs". Trabalho apresentado em 11th Edition of the International Meeting of the Portuguese Society for Stem Cells & Cell Therapies, 2019.
  21. da Rocha, Simão T.; Bousard Aurelie; Raposo, Ana C; Zylicz, Jan Jakub; Picard, Christel; Pires, Vanessa Borges; Qi, Yanyan; et al. "Exploring the Role of Xist-mediated Polycomb Recruitment in the Initiation of Transcriptional Silencing of the X Chromosome.". Trabalho apresentado em 3rd International Symposium on Frontiers in Molecular Science on RNA Regulatory Networks, 2019.
  22. da Rocha, Simão T.; Bousard, Aurélie; Zylicz, Jan Jakub; Raposo, Ana Cláudia; Picard, Christel; Pires, Vanessa Borges; Qi, Yanyan; et al. "Genetic dissection of Xist lncRNA reveals independent modules involved in transcriptional silencing and heterochromatin formation". Trabalho apresentado em EMBO/EMBL symposium: "The Complex Life of RNA”, 2018.
  23. da Rocha, Simão T.; Bousard, Aurélie; Zylicz, Jan Jakub; Raposo, AC; Picard, Christel; Pires, Vanessa Borges; Qi, Yanyan; et al. "Genetic dissection of Xist lncRNA reveals independent modules involved in transcriptional silencing and heterochromatin formation". Trabalho apresentado em EMBO meeting on “Transcription and Chromatin”, 2018.
  24. da Rocha, Simão T.; Pólvora-Brandão, Duarte; Joaquim, Mariana; Aprile, Domenico; Pereira de Almeida, Luís; Duarte, Sofia. "Loss of imprinting at the 15q11-q13 region during reprogramming results in a novel iPSC model for Angelman syndrome.". Trabalho apresentado em Cold Spring Harbor meeting on “Stem Cell Biology”, 2017.
  25. da Rocha, Simão T.; Pires, Vanessa Borges; Raposo, Ana Cláudia; Picard, Christel; Heard, Edith. "Genetic dissection of Xist lncRNA reveals conserved functional RNA domains involved in facultative heterochromatin formation during X-inactivation". Trabalho apresentado em EMBO meeting on “Chromatin and Epigenetics”, 2017.
  26. da Rocha, Simão T.; Pires, Vanessa Borges; Raposo, Ana Cláudia; Heard, Edith. "Genetic dissection of Xist reveals mechanistic insights of conserved functional RNA domains". Trabalho apresentado em Royal Society Meeting on “X-chromosome inactivation: a tribute to Mary Lyon”, 2016.
  27. da Rocha, Simão T.; Boeva, Valentina; Martin Escamilla-Del-Arenal; Katia Ancelin; Granier, Camille; Matias, Neuza; Sanulli, Serena; et al. "JARID2 participates in the initial targeting of PRC2 to the inactive X chromosome.". Trabalho apresentado em Epigenesys Meeting, 2013.
  28. da Rocha, Simão T.; Martin Escamilla-Del-Arenal; Matias, Neuza; Granier, Camille; Sanulli, Serena; Wutz, A; Reinberg, Danny; Margueron, Raphael; Heard, Edith. "Exploring the role of JARID2 in the chromatin events associated with the initiation of X-chromosome inactivation.". Trabalho apresentado em Abcam Meeting on “Chromatin: From Structure to Epigenetics”, 2012.
  29. da Rocha, Simão T.; Lin, Shau-Ping; Ito, Mitsuteru; Angiolini, Chris; Watkins, Marie; Dean, Wendy; Anne C. Ferguson-Smith. "The Function and Regulation of the Imprinted Gene Delta-like 1 (Dlk1) in Mouse Development". Trabalho apresentado em Gordon Conference on “Epigenetics”, 2005.
  30. da Rocha, Simão T.; Lin, Shau-Ping; Angiolini, Chris; Watkins, Marie; Dean, Wendy; Anne C. Ferguson-Smith. "The role of Delta-like 1 (Dlk1) in mouse development: a transgenic approach.". Trabalho apresentado em Cold Spring Harbor Laboratory Meeting on “Mouse Molecular Genetics”, 2004.
Pré-impressão
  1. Marta Ribeiro; Joanna Jager; Marta Furtado; Teresa Carvalho; Joaquim M.S. Cabral; Dulce Brito; Maria Carmo-Fonseca; Sandra Martins; Simão Teixeira da Rocha. "Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G>A mutation". 2024. https://doi.org/10.21203/rs.3.rs-4043715/v1.
    10.21203/rs.3.rs-4043715/v1
  2. Samantha Mancino; Janith Seneviratne; Annalisa Mupo; Felix Krueger; David Oxley; Melanie A Eckersley-Maslin; Simão Teixeira da Rocha. "Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aging Brain". 2023. https://doi.org/10.1101/2023.09.29.560184.
    10.1101/2023.09.29.560184
Resumo em conferência
  1. Maranga, Carina; Pereira da Silva, Teresa; Vaz Sandra; da Rocha, Simão T.; Fernandes, Tiago G.; Bekman, Evguenia P.; Cabral, Joaquim S. "Disease modeling of Angelman syndrome using hiPSC-derived cerebellar organoids". 2019.
    Publicado
  2. Marika Charalambous; da Rocha, Simão T.; Anne Ferguson-Smith. "DLK1/PREF1 prevents hepatosteatosis by elevating pituitary GH secretion". 2014.
    10.1530/endoabs.34.p224
Tese / Dissertação
  1. da Rocha, Simão T.. "The role of Delta-like 1 (Dlk1) in mouse development and metabolism". Doutoramento, University of Cambridge Department of Physiology Development and Neuroscience, 2007.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2024/08/01 Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome ASA Scientific Conference & AngelmanUK Family Conference
Angelman Syndrome Alliance (Coventry, Reino Unido)
2023/03/23 A stem cell-based model of Angelman syndrome Genomic Imprinting - from Biology to Disease
Wellcome Connecting Science (Cambridge, Reino Unido)
2023/01/26 Consequences of XIST lncRNA loss of expression in female human stem cells, RNA in Disease IX ptRNA meeting
RNA in Disease IX ptRNA meeting (Lisbon, Portugal)
2022/09/15 Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome 7th International Scientific Conference on Angelman Syndrome
Angelman Syndrome Alliance (Vienna, Áustria)
2022/07 A brain-in-a-dish approach to model Angelman syndrome. RIBOMED Satellite Conference on RNA in Disease at the Biochemistry Global Summit
IUBMB-FEBS-PABMB (Lisbon, Portugal)
2022/05/04 Epigenetic fidelity of induced pluripotent stem cells Invited Lecture
NOVA Medical School (Lisbon, Portugal)
2020/12/14 From reprogramming to disease modeling: the assets and drawbacks of induced pluripotent stem cells. Invited talk at DBE Seminars
Department of Bioengineering, Instituto Superior Técnico (Lisbon, Portugal)
2020/09/30 IMPLICON: an ultra-deep sequencing method to uncover DNA methylation at imprinted regions. "Genomic Imprinting – From Biology to Disease” Virtual Meeting
International Genomic Imprinting Society (Cambridge (virtual), Reino Unido)
2020/05/27 Síndrome de Angelman: Ensaios clínicos e Mini cérebros" Virtual meeting with Associação Síndrome de Angelman Portugal
Associação Síndrome de Angelman Portugal (-, Portugal)
2019/11/28 Epigenetic variability of iPSCs: consequences for disease modelling. Invited talk at nstitut de Génétique Moléculaire de Montpellier (IGMM), CNRS & University of Montpellier, Montpellier, FRANCE
Institut de Génétique Moléculaire de Montpellier (Montpellier, França)
2019/10/10 Epigenetic variability in iPSCs: causes and consequences. 11th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies.
Portuguese Society for Stem Cells and Cell Therapies (Lisboa, Portugal)
2019/06/28 Epigenetic variability of iPSCs. Edith HEARD 17 years of e(Xist)ing at Curie
Institut Curie (Paris, França)
2019/03/12 Exploring the role of Polycomb recruitment in Xist-mediated silencing of the X chromosome in ES cells Keystone Symposium Conference on Epigenetics and Human Diseases (X5).
Keystone Symposia (Banff, Canadá)
2019/02/13 The impact of epigenetic variability in pluripotent stem cells: mechanistic insights in lncRNA-mediated epigenetic changes Invited talk at IBIMED, University of Aveiro, PORTUGAL.
IBIMED, University of Aveiro (Aveiro, Portugal)
2017/10/10 Systematic DNA methylation analysis reveals prevalence of imprinting defects in mouse iPSCs 10th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies
Portuguese Society for Stem Cells and Cell Therapies (Covilhã, Portugal)
2016/09/28 Angelman syndrome, human genetics, RNA and beyond 5th Angelman International Scientific Conference
Angelman Syndrome Alliance (Lisboa, Portugal)
2016/05/03 Xist RNA dependent JARID2 recruitment is crucial for efficient PRC2 targeting to the inactive X-chromosome EMBO/EMBL meeting on “Epigenetics and Chromatin” May 2013, EMBO, Heidelberg, Germany.
EMBO/EMBL (Heidelberg, Alemanha)
2016/03/05 Mechanistic insights into Xist lncRNA-mediated recruitment of chromatin modifiers during X-chromosome inactivation. Invited talk at CNC/UC-Biotech, Coimbra, PORTUGAL
CNC/UC-Biotech, Universidade de Coimbra (Coimbra, Portugal)
2016/02/10 Mechanistic insights into Xist lncRNA-mediated recruitment of chromatin modifiers EMBO Workshop on “Systems Biology of non-coding RNAs”
EMBO (Rohovot)
2013/05/12 Xist RNA dependent JARID2 recruitment is crucial for efficient PRC2 targeting to the inactive X-chromosome EMBO meeting on “Epigenetics and Chromatin”
European Molecular Biology Organization (Heidelberg, Alemanha)
2007/09/08 Dosage effects of Dlk1/Pref1 in pre-natal mouse development: implications for control by genomic imprinting Wellcome Trust Conference on ¿Mouse Molecular Genetics
Wellcome Trust (Hinxton, Reino Unido)
2006/11/24 Postnatal metabolic consequences of prenatal over-expression of Dlk1/Pref1 in mouse. Rank Prize Mini-Symposium in Nutrigenomics
Rank Prize (Windemere, Reino Unido)
2006/11/17 Postnatal metabolic consequences of prenatal over-expression of Dlk1/Pref1 in mouse The Genetics Society’s 17th Mammalian Genetics and Development Workshop
The UK Genetics Society (London, Reino Unido)
2006/09/15 The role of the imprinted gene Delta-like 1 (Dlk1) in mouse metabolism. Cold Spring Harbour Symposium in “Mouse Molecular Genetics”
Cold Spring Harbour Symposia (Cold Spring Harbour, Estados Unidos)
2005/04/15 The role of the imprinted gene Delta-like 1(Dlk1) in mouse development: a transgenic approach. Harwell Imprinting Conference 2005 on “Genomic Imprinting, Development and Disease”
Harwell Imprinting Conference (Oxford, Reino Unido)

Orientação

Título / Tema
Papel desempenhado
Curso (Tipo)
Instituição / Organização
2025/09/15 - Atual Decoding the impact of patient-specific SYNGAP1 mutations using Forebrain Organoids derived from Gene-Edited Stem Cells
Orientador
Bioengenharia (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2025/02/15 - Atual Exploring the role of RNF20 and RNF40 in X-chromosome inactivation regulation using human female embryonic stem cells.
Orientador de Joana Vieira Santos
Biotecnologia (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2025/02/01 - Atual Ensuring reversal of X-chromosome inactivation during naïve iPSC reprogramming
Orientador de Francisca Mateus
Bioengenharia (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2024/09/15 - Atual Advancing therapeutics in Angelman Syndrome: A fluorescence-based approach to drug screenings using engineered human embryonic stem cells
Coorientador de Diana Carrasqueira
Biologia do Organismo e Evoluc¸a~o (Mestrado)
Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2024/02/01 - Atual An Isogenic Stem Cell Tool Kit to Advance Therapeutics in Angelman Syndrome
Orientador de João Camões dos Santos
PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/04/05 - Atual Assessing the impact of imprinting defects in human iPSCs: Is cell therapy safe?
Orientador de Maria Arez
PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2023/09/01 - 2024/11/30 X-chromosome inactivation in systemic lupus erythematosus
Coorientador de Joana Inácio
Molecular Genetics and Biomedicine (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2018/12/01 - 2024/10/23 Functional dissection of the XIST non-coding RNA in X-chromosome inactivation in human ESCs
Orientador de Ana Cláudia Raposo
PhD in Biomedicine (Doutoramento)
Universidade de Lisboa Faculdade de Medicina, Portugal
2019/12/01 - 2024/09/05 Exploiting the role of long non-coding RNAs in the direct conversion of fibroblasts into functional cardiomyocytes and neurons
Coorientador de Francisco José Furtado Santos
PhD in Biomedical Sciences (Doutoramento)
Universidade de Aveiro Departamento de Ciências Médicas, Portugal
2023/03 - 2024/02/28 The role of RNF20/RNF40 in X-chromosome inactivation
Orientador de Mahdi Moradi
Medical Biotechnology (Mestrado)
Università degli Studi di Bologna, Itália
2022/09/05 - 2024/02/20 hiPSC-based brain organoid models to study Angelman syndrome
Coorientador de Carolina Appletion
MSc in Evolutionary and Developmental Biology (Mestrado)
Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2022/09 - 2023/12/07 Erosion of X-chromosome inactivation in human female embryonic stem cells
Orientador de Joana Jeremias
MSc in Biological Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2023/02 - 2023/11/29 Dissecting the molecular mechanisms of X-chromosome inactivation using human pluripotent stem cells
Orientador
MSc in Biotechnology Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/03/01 - 2023/11/18 Modelling Angelman syndrome in CRISPR-edited isogenic iPSCs.
Coorientador de Alípio Gomes
Biological Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2023/02 - 2023/07 Epigenetic fidelity of human pluripotent stem cells (iPSCs)
Orientador
Biology: From fundamental molecular biosciences to biotherapies option (Iniciação científica)
Sorbonne Université, França
2022/09 - 2023/01 Hypertrophic Cardiomyopathy: generation of patient specific induced pluripotent stem cell derived cardiomyocytes for improved diagnostics and novel therapies
Orientador
Biotechnology (Iniciação científica)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/03/01 - 2022/07/03 Generation of genetically engineered human embryonic stem cells using CRISPR-Cas9 A toolbox for human disease modelling
Coorientador de Laura Dias
Biological Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/03 - 2022/07 Epigenetic regulation of X-chromosome inactivation in female human iPSCs
Orientador
BSc in Biological Engineering (Iniciação científica)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/02/01 - 2022/06/30 Analysis of epigenetic defects in human induced pluripotent stem cells
Orientador
Biochesmitry (Iniciação científica)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2018/03/01 - 2022/06/30 Cerebellar organoids derived from hiPSCs to model Angelman syndrome
Coorientador de Carina Maranga
PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2019/09/01 - 2021/02/24 In Vitro Modeling of Angelman Syndrome using the Neural Commitment of Patient-Specific iPSCs
Coorientador de Adriana Vieira
MSc in Molecular Biology and Genetics (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2019/09/01 - 2021/02/06 Editing of the ADORA2A gene by CRISPR/Cas9
Orientador
Neurosciences (Mestrado)
Universidade de Lisboa Faculdade de Medicina, Portugal
2017/01/02 - 2020/12/18 Instability of X-chromosome inactivation in female human iPSCs
Orientador
MSc in Medicine (Mestrado)
Universidade de Lisboa Faculdade de Medicina, Portugal
2019/05/01 - 2020/06/24 Characterization of genomic imprinting defects during mouse iPSC generation
Orientador de Tadja Klobucar
MSc in Biotechnology (Mestrado)
Univerza v Ljubljani Biotehniska fakulteta, Eslovénia
2018/09/01 - 2019/11/06 Functional dissection of the Xist lncRNA conserved sequences in X-chromosome inactivation
Orientador de Cláudia Gil
MSc in Molecular Biology and Genetics (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2018/02/01 - 2018/10/30 A disease modelling approach for Angelman syndrome based on neuronal differentiation of human patient-derived iPSCs
Orientador de Ana Guerreiro
Biological Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2017/09/01 - 2018/10/15 Comprehensive Evaluation of Genomic Imprinting Stability in Mouse iPSCs
Orientador de Maria Arez
MSc in Molecular Genetics and Biomedicine (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2017/09/01 - 2018/10/10 The role of Meg3 lncRNA in imprinting and pluripotency
Orientador
MSc in Molecular Biology and Genetics (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2018/01/02 - 2018/09/30 From mice to humans: a creation of a human model to assess the relation between UBE3A and mitochondrial activity in Angelman Syndrome patients.”
Orientador
Medicine (Iniciação científica)
Universidade de Lisboa Faculdade de Medicina, Portugal
2018/01 - 2018/09 3. Jan-Sept 2018: Inês Pinto, GAPIC (Gabinete de apoio à investigação científica, tecnológica e inovação) project: From mice to humans: a creation of a human model to assess the relation between UBE3A and mitochondrial activity in Angelman Syndrome patients, MSc in Medicine, Faculty of Medicine, University of Lisbon (as a main supervisor).
Orientador
Medicine (Iniciação científica)
Universidade de Lisboa Faculdade de Medicina, Portugal
2016/09/01 - 2017/10/30 Exploring cell reprogramming techniques for Angelman syndrome disease modelling
Orientador de Mariana Joaquim
MSc in Molecular Genetics and Biomedicine (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2016/02/01 - 2017/02/28 Monitoring epigenetic stability in induced Pluripotent Stem Cells
Orientador
MSc in Biological Sciences: Molecular diagnostics (Mestrado)
Università degli Studi di Napoli Federico II, Itália
2016/02/01 - 2016/11/15 Comprehensive study of the stability of genomic imprinting during iPSC reprogramming
Orientador
MSc in Biomedical Engineering (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2015/09/01 - 2016/10/15 Generation and characterization of Angelman Syndrome iPSCs for disease modelling and drug screening.
Orientador
MSc in Molecular and Cellular Biology (Mestrado)
Universidade do Porto Faculdade de Ciências, Portugal
2009/09/01 - 2010/10/25 Exploring the role of the Jumonji/ARID1 family of proteins during embryonic stem cell differentiation and X-chromosome inactivation
Orientador
MSc in Molecular Biology and Genetics (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação)
Instituição / Organização
2021/02 - 2023/12/31 SCERG seminars - Weekly seminars of the Stem Cell Engineering Research Group (SCERG) featuring internal seminars and invited external speakers. (2021/02 - 2023/12/31)
Seminário (Presidente da Comissão Organizadora)
Universidade de Lisboa Instituto de Bioengenharia e Biociências, Portugal
2019/03/10 - 2020/02/20 Lisbon Area - Stem Cell Club The aim of these meetings is to share knowledge in stem cells and foster collaborative work within the stem cell community in the greater Lisbon area. Each event comprises of two talks by invited speakers, followed by discussions in an informal setting every two months. (2019/03/10 - 2020/02/20)
Seminário (Coorganizador)
Instituto de Medicina Molecular, Portugal

Participação em evento

Descrição da atividade
Tipo de evento
Nome do evento
Instituição / Organização
2021/11/06 - Atual 1st Open Day IST Taguspark 2021
Outro
Open Day IST Taguspark
Universidade de Lisboa Instituto Superior Técnico, Portugal
2020/02/27 - 2020/02/27 Participation in the webinar Doenças Raras: Perspectivas Actuais e o Futuro
Mesa-redonda
E_CONVERSAS NA FMUL
Universidade de Lisboa Faculdade de Medicina, Portugal

Júri de grau académico

Tema
Tipo de participação
Nome do candidato (Tipo de grau)
Instituição / Organização
2023/12/20 Nutritional and aging-associated barriers to cell reprogramming
Arguente principal
Rafaela Monteiro Dias (Mestrado)
Universidade de Aveiro, Portugal
2023/12/05 TERRA-mediated recruitment of SMARCAL1 in response to telomeric replication stress
Arguente principal
João Pedro Pina Rebelo (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2023/03/29 Epigenetics and Genetics of hematopoietic stem cells heterogeneity
Vogal
Nadiya Kubasova (Doutoramento)
Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2023/02 Exploring the contribution of transposable elements for the pathogenesis of Rett syndrome
Arguente principal
Margarida Bettencourt (Outro)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/11 Interplay of TET1 in Wnt signalling in neural induction mediated by TCF7L1
Arguente principal
Mariana Schroiff Nogueira Antunes (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/06/23 Toward Chromosome 6 Replacement in hPSCs by Editing Nucleases and Microcell Mediated Chromosome Transfer (MMCT)
Arguente principal
João Manuel Coelho Carreira (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/12/14 Transcriptional Program Biosensors for Human Cell Type and State Diagnosis
Arguente principal
Benilde Francisco Pondeca (Doutoramento)
Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal
2021/11/30 Establishing cellular models to investigate the role of LINE-1 elements in X-chromosome inactivation and genome stability
Arguente principal
Inês Cardial Mendes Dias (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/01/18 TERRA Transcription Profiles in Human Cancer Cells
Arguente principal
Miguel Filipe Martins Louro Alves (Mestrado)
Universidade de Lisboa Instituto Superior Técnico, Portugal
2020/07/24 Exploiting the role of long non-coding RNAs in the direct conversion of fibroblasts into functional cardiomyocytes Departamento do Biologia, Universidade de Aveiro 24/07/2020 Masters in Score: 18/20
Arguente principal
Paula Magda Teixeira Correia (Mestrado)
Universidade de Aveiro Departamento de Biologia, Portugal
2019/12/18 How the lncRNA Zeb2-NAT regulates the expression of Zeb2
Arguente principal
Miguel Francisco Cruz Romano Guedes (Mestrado)
Universidade de Lisboa Faculdade de Farmácia, Portugal
2019/11/26 Role of Cerl2 in the Modulation of Nodal and Wnt/B-catenin Pathways in Mouse Embrionic Stem Cells to Study Cardiomyocyte Differentiation
Arguente principal
Mariana Simas Faria (Mestrado)
Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2019/11/18 Chronic neuropathic pain: the role for imprinted genes in pain modulation
Arguente principal
Carlos Daniel Pinheiro da Silva Vasconcelos (Mestrado)
Universidade do Porto Faculdade de Medicina, Portugal
2018/10/13 Programmed DNA damage as a new tool to regulate gene activation
Arguente principal
Cristiana Morgado (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016/11/09 Understanding the role of parasites epitranscriptome
Arguente principal
João Miguel Barbosa Nina (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016/06/22 A long non-coding RNA regulating cellular reprogramming
Arguente principal
Sara Azevedo Barros (Mestrado)
Universidade de Lisboa Faculdade de Ciências, Portugal
2016/03/12 Analysis of the gene regulatory network underlying pluripotenciality in mouse embryonic stem cells
Arguente principal
Ana Marisa Mendes Gonçalves Vinhais Guedes (Doutoramento)
Universidade de Lisboa Instituto Superior Técnico, Portugal

Arbitragem científica em conferência

Nome da conferência Local da conferência
2023/10/24 - 2023/10/27 30th European Society of Gene and Cell Therapy (ESGCT) Annual Congress European Society of Gene and Cell Therapy (ESGCT)
2023/10/11 - 2023/10/13 European Tissue Repair Society (ETRS) & Portuguese Society for Stem Cells and Cell Therapy (SPCE-TC) Annual Joint meeting European Tissue Repair Society (ETRS) & Portuguese Society for Stem Cells and Cell Therapy (SPCE-TC)

Arbitragem científica em revista

Nome da revista (ISSN) Editora
2020/11/05 - Atual Review Editor in Developmental Epigenetics for the Journal Frontiers in Cell and Developmental Biology. (2296634X)

Comissão de avaliação

Descrição da atividade
Tipo de assessoria
Instituição / Organização Entidade financiadora
2023 - 2023 Scientific Evaluator of the EJP RD – European Joint Programme on Rare Disease – Networking Support Scheme (NSS) Call (https://www.ejprarediseases.org/our-actions-and-services/funding-opportunities/calls/networking-support/) in 2023.
Avaliador
European Joint Programme on Rare Disease – Networking Support Scheme (NSS) , Bélgica European Joint Programme on Rare Disease – Networking Support Scheme (NSS)
2021 - 2021 Scientific Evaluator of a project grants from the French National Research Agency (ANR) in 2021.
Avaliador
Agence nationale de la recherche, França Agence nationale de la recherche

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2021/11/04 - Atual Lecture Ciência Viva: "Células Estaminais e Medicina Regenerativa" Biology (Ensino secundário)
2020/11/24 - Atual Lecture on "Reversing the aging epigenotype during iPSC Reprogramming" Aging and Dementia (Doutoramento) Universidade de Aveiro, Portugal
2020/03/02 - Atual Lecture on "Epigenetic regulation of gene expression: the classical examples of X-chromosome inactivation and genomic imprinting", Lisbon BioMed PhD Program. (Doutoramento) Instituto de Medicina Molecular, Portugal
2019/05/07 - Atual Lecture on "Epigenetics and Gene Expression. Joint PhD program in Biomedicine" , IBIMED/Aveiro and Nova Medical School/Lisbon, Aveiro, Portugal, 7 May, 2019. Biomedecine (Doutoramento) Universidade de Aveiro Instituto de Biomedicina, Portugal
2018/09/15 - Atual Member of the faculty team of the Course on “Molecular and Cellular Biology”, Integrated Master’s course in Nutrition Sciences, Faculty of Medicine of the University of Lisbon. Molecular and Cellular Biology (Mestrado integrado) Universidade de Lisboa Faculdade de Medicina, Portugal
2018/02/27 - Atual Lecture on "Epigenetic stability and long non-coding RNAs in stem cell biology" Frontiers in Biology Research (Mestrado) Universidade de Lisboa Faculdade de Ciências, Portugal
2017 - Atual Lecture on “Epigenetics and Obesity” for the Pediatrics Module, Integrated Master’s course in Medicine, Faculty of Medicine of the University of Lisbon Pediatrics Module (Mestrado integrado) Universidade de Lisboa Faculdade de Medicina, Portugal
2019/04/27 - 2019/04/27 Lecture on "Sustentabilidade e edição genética – desafios para a Biologia no século XXI" at IX Congresso Associação Portuguesa de Professores de Biologia e Geologia (APPBG) (Pós-Graduação)
2017/07/15 - 2017/07/30 Optional Course on “Introduction to scientific investigation of molecular biology of the cell”, Integrated Master’s course in Medicine, Faculty of Medicine of the University of Lisbon, 2017/2018. Optional Course on “Introduction to scientific investigation of molecular biology of the cell”, (Mestrado integrado) Universidade de Lisboa Faculdade de Arquitectura, Portugal
2017/07/27 - 2017/07/27 Lecture on "The epigenetics of X-inactivation" Module of epigenomics of metabolic disease of the doctoral program on Metabolism - . – clinics and experimentation (Doutoramento) Universidade do Porto Faculdade de Medicina, Portugal
2016/04/21 - 2016/04/21 Lecture on "X-inactivation - a paradigm of epigenetic regulation mediated by the Xist long non-coding RNA" Postgraduate Course on Epigenetics – from mechanisms to disease. (Pós-Graduação) Universidade do Minho Escola de Medicina, Portugal
Distinções

Prémio

2006 Best oral presentation at Rank Prize Mini-Symposium in Nutrigenomics, Windermere, UK
Rank Prize Funds, Reino Unido
2001 Fundação Eng. António de Almeida Award for best ranking in the Biology Degree (1997/2001)
Fundação Engenheiro António de Almeida, Portugal
2000 Manuel Ferreira Award for best performance in Vascular Taxonomy (1999/2000)
Universidade do Porto, Portugal
1999 António Leitão Award for best performance in Plant Anatomy (1998/1999)
Universidade do Porto, Portugal