Simão José Teixeira da Rocha (1310-8F0F-1387)

Curriculum Vitae

Simão José Teixeira da Rocha

My scientific journey initiated in 1997 with a 4-year undergraduate degree in Biology at the Faculty of Sciences, Univ. of Porto, culminating with the top score of my class (18/20). From 2001-2002, I enrolled on the Graduate Program in Areas of Basic and Applied Biology (GABBA) at Abel Salazar Biomedical Sciences Institute (ICBAS), Univ. of Porto under the supervision of Prof. Maria de Sousa. In late 2002, I move to the Univ. of Cambridge in the UK to do my PhD and a short postdoc in Mammalian Developmental Epigenetics with Prof. Anne Ferguson-Smith (current Pro-Vice-Chancellor for Research at the Univ. of Cambridge. Main outputs from my period in Prof. Ferguson-Smith's lab were the publication of 9 articles, 4 of which as a 1st author. In 2008, I joined the lab of Prof. Edith Heard (current Director General of the EMBL - European Molecular Biology Laboratory) at Institute Curie, France. Here, I studied Molecular Epigenetics and authored a total of 9 peer-reviewed articles, 3 of which as a 1st author and 1 as a senior and corresponding author, in high-impact Journals such as Cell, Mol Cell, Nature Struct Mol Biol and EMBO Rep. In 2015, I joined the lab of Prof. Maria do Carmo Fonseca (Founder and former Director of the Instituto de Medicina Molecular - iMM) as a senior researcher. For that, I was initially awarded with an Investigator FCT (iFCT) assistant research position, followed an individual CEEC (Call Estímulo ao Emprego Científico Individual) Assistant researcher contract that I obtained in 2019. Main scientific outputs of this period included 9 publications, which included 5 as senior author in Journals such as Stem Cell Res, Hum Mol Genet and Nucleic Acids Res, as well as 5 project grants as a Principal Investigator - PI (securing a total of ¿484,035.00). During this period, I supervised 12 MSc students and initiate the supervision of one PhD student, plus 2 as co-supervisor. In Sept 2018, I also became an invited assistant professor at Faculty of Medicine, Univ. of Lisbon. In 2021, I became the responsible for the 'Stem Cell Epigenetics' Lab at Institute for Bioengineering and Biosciences, Instituto Superior Técnico (iBB/IST), Univ. of Lisbon for which I was awarded a 2nd CEEC Assistant researcher contract. My current lab interests intersect epigenetics and stem cell biology with 3 main avenues of research: (1) mechanisms of epigenetic regulation of gene expression in stem cells; (2) epigenetic fidelity of stem cell models; (3) stem cell-based disease modeling of human developmental disorders. I have 2 ongoing projects as a PI from FCT & Angelman Syndrome Alliance, and two as co-PI from Foundation for Prader-Willi Research & 'La Caixa' Foundation securing a total of ¿788,568.18. I am also a Working Package leader substitute of the EURAS consortium funding by the European Commission (iBB/IST budget: ¿484.576,15) on neurodevelopmental disorders. In these 3 years, I have authored 7 articles including a senior author paper in Nature Comms. I have (co)-supervised one PhD and one MSc student who successfully defend their thesis. My current research group consists of 1 senior researcher, 1 postdoctoral researcher, 3 PhD students, 3 research assistants and 1 MSc and 2 BSc students. Starting from April 2024, I'll be joining as an Assistant Professor in Molecular and Cell Biology at the Department of Bioengineering (DBE) of IST, University of Lisbon. In summary, I have published 36 peer-reviewed publications (h-index: 19; 2,391 citations), including 10 as a first author and 14 as senior and corresponding author. I have secured funding from 9 project grants as a PI/co-PI, 4 of which are currently ongoing. I have an extended experience in advanced training (have/am supervised/supervising 21 MSc and 5 PhD students). I currently lead the 'Stem Cell Epigenetics' Lab at SCERG, iBB/IST and I will become an Assistant professor at DBE IST-UL from April 2024.

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Identification

Personal identification

Full name: Simão José Teixeira da Rocha

Citation names

da Rocha, Simão T.

Author identifiers

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

Email addresses

simao.rocha@tecnico.ulisboa.pt (Professional)
simaoteixeiradarocha@medicina.ulisboa.pt (Professional)
simaoroc@gmail.com (Personal)

Telephones

Telephone

217999411 Ext.: 47320 (Professional)

Addresses

Av. Prof. Doutor Cavaco Silva, 2744-016, Porto Salvo, Oeiras, Portugal (Professional)
Rua Tomás da Anunciação 161, 4ºESQ, 1350-326, Lisboa, Lisboa, Portugal (Personal)

Websites

https://scerg.tecnico.ulisboa.pt/biolengpsclab3.html (Scholar)

Knowledge fields

Medical and Health Sciences - Basic Medicine

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
Portuguese (Mother tongue)
English	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)	Proficiency (C2)
French	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)	Upper intermediate (B2)

Education

	Degree	Classification
2002/10/03 - 2007/05/12 Concluded	PhD in Biology (Doutoramento) University of Cambridge Department of Physiology Development and Neuroscience, United Kingdom "The role of Delta-like 1 (Dlk1) in mouse development and metabolism " (THESIS/DISSERTATION)	Approved
2001/11/05 - 2002/06/30 Concluded	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 Concluded	Biology (Licenciatura) Universidade do Porto Faculdade de Ciências, Portugal "6q chromosome deletions in gastric cancer" (THESIS/DISSERTATION)	18 (out of 20)

Affiliation

Science

	Category Host institution	Employer
2022/11/15 - Current	Principal Investigator (Research)	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	Researcher (Research)	Instituto de Medicina Molecular, Portugal
	Instituto de Medicina Molecular, Portugal
2008/04/01 - 2014/12/31	Postdoc (Research)	Institut Curie, France
	Institut Curie, France
2008/05/15 - 2008/08/15	Postdoc (Research)	University of Copenhagen Biotech Research and Innovation Centre, Denmark
	University of Copenhagen Biotech Research and Innovation Centre, Denmark
2007/05/14 - 2008/03/31	Postdoc (Research)	University of Cambridge Department of Physiology Development and Neuroscience, United Kingdom
	University of Cambridge Department of Physiology Development and Neuroscience, United Kingdom

Teaching in Higher Education

	Category Host institution	Employer
2024/04/01 - Current	Assistant Professor (University Teacher)	Universidade de Lisboa Instituto Superior Técnico, Portugal
	Universidade de Lisboa Instituto Superior Técnico, Portugal
2019/09/01 - 2023/08/31	Invited Assistant Professor (University Teacher)	Universidade de Lisboa Faculdade de Medicina, Portugal
	Universidade de Lisboa Faculdade de Medicina, Portugal

Projects

Grant

	Designation	Funders
2023/06/01 - Current	Role of microbial metabolites in regulating hypothalamic pathways involved in feeding behavior 1029673 Co-Principal Investigator (Co-PI) Universidade de Lisboa Instituto de Bioengenharia e Biociências, Portugal	Foundation for Prader-Willi Research Ongoing
2022/09/15 - Current	Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome Research Grants on Angelman Syndrome Principal investigator Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal	Angelman Syndrome Alliance Ongoing
2021/01/01 - Current	X-Chromosome Inactivation in Systemic Lupus Erythematosus EXPL/MED-OUT/1517/2021 Researcher Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2023/03/06 - 2026/03/05	Estados pluripotentes transitórios como novos reservatórios de antigénios específicos contra o cancro 2022.01199.PTDC Researcher Universidade de Aveiro, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2023/01/01 - 2025/12/31	Dissecting the molecular mechanisms of X-chromosome inactivation using human embryonic stem cells 2022.01532.PTDC Principal investigator Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2020/10/01 - 2024/03/31	RNA mis-splicing in hypertrophic cardiomyopathy: opportunities for diagnosis and therapy HR20-00322 Co-Principal Investigator (Co-PI) Instituto de Medicina Molecular, Portugal	CaixaForum Barcelona Ongoing
2018 - 2022/06/30	Deciphering the epigenetic aging barriers for iPSC reprogramming PTDC/BIA-MOL/29320/2017 Principal investigator Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
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 Principal investigator Fundação Amélia de Mello, Portugal	Fundação Amélia de Mello Concluded
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 Researcher Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2019/01/02 - 2019/11/30	Monitoring the stability of X-chromosome inactivation during neuronal differentiation of human female iPSCs 20190026 Supervisor Instituto de Medicina Molecular, Portugal	GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC) Concluded
2016/06/01 - 2019/11/30	The non-coding transcriptome in stemness and aging PTDC/BIM-MED/0032/2014 Researcher Universidade de Aveiro, Portugal Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/06 - 2019/06	Comprehensive study of the dynamics of epigenetic processes involving lncRNAs during iPSC reprogramming PTDC/BEX-BCM/2612/2014 IC&DT Principal investigator	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 Supervisor Instituto de Medicina Molecular, Portugal	GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC) Concluded
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 Supervisor Instituto de Medicina Molecular, Portugal	GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC) Concluded
2017/01/02 - 2017/11/30	Genetic dissection of conserved RNA modules of human XIST lncRNA implicated in X-inactivation using iPSCs 20170011 Supervisor Instituto de Medicina Molecular, Portugal	GABINETE DE APOIO À INVESTIGAÇÃO CIENTÍFICA, TECNOLÓGICA E INOVAÇÃO (GAPIC) Concluded
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 Principal investigator Instituto de Medicina Molecular, Portugal	Fundação Amélia de Mello Concluded

Contract

	Designation	Funders
2022/05/01 - Current	Rescuing defective X-chromosome inactivation in induced pluripotent stem cells for translational and clinical research 2021.00660.CEECIND Researcher Associação do Instituto Superior Técnico para a Investigação e Desenvolvimento, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2015/04/01 - Current	Exploring the interplay between non-coding RNAs and chromatin modifying complexes in the establishment of defined chromatin states IF/00242/2014/CP1236/CT0009 Researcher Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2019/05/16 - 2022/11/14	Correcting imprinting defects in induced pluripotent stem cells (iPSCs) CEECUIND/01234/2017 Researcher Instituto de Medicina Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
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 Post-doc Fellow Institut Curie, France	EU Framework Programme for Research and Innovation Marie Sklodowska-Curie Actions Concluded
2008/05/19 - 2008/08/19	The role of H3K4 demethylases in X-chromosome inactivation ASTF 138-2008 Post-doc Fellow University of Copenhagen Biotech Research and Innovation Centre, Denmark	Gesellschaft zur Förderung der Lebenswissenschaften Heidelberg GmbH Concluded
2001/11/01 - 2005/10/31	The role of Delta-like 1 (Dlk1) in mouse development and metabolism SFRH/BD/5808/2001 PhD Student Fellow University of Cambridge Department of Physiology Development and Neuroscience, United Kingdom	Fundação para a Ciência e a Tecnologia Concluded

Outputs

Publications

Book chapter	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. Published
Conference abstract	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. Published Marika Charalambous; da Rocha, Simão T.; Anne Ferguson-Smith. "DLK1/PREF1 prevents hepatosteatosis by elevating pituitary GH secretion". 2014. 10.1530/endoabs.34.p224
Conference poster	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". Paper presented in IBB Meeting 2023, 2023. 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". Paper presented in SPCE-ETRS Joint Annual Meeting 2023, 2023. da Rocha, Simão T.. "Between active and inactive: a tale of the eroded X (Xe) in female human pluripotent stem cells". Paper presented in EMBO Workshop on X-chromosome inactivation: new insights on its 60th anniversary, 2023. 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.". Paper presented in ISSCR 2022 Annual Meeting - International Society for Stem Cell Research,, 2022. 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". Paper presented in 12th International Meeting of the Portuguese Society for Stem Cells and Cell Therapies, 2022. 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". Paper presented in Vienna Biocenter PhD Symposium 2021 'Building Bridges', 2021. 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". Paper presented in Virtual EMBL Conference on Epigenetics and Chromatin, 2021. 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". Paper presented in Neuroepigenetics: From Cells to Behaviour and Disease Virtual EMBO Workshop, 2020. 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". Paper presented in EMBO Symposium on Organoids: Modelling Organ Development and Disease in 3D Culture, 2020. 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". Paper presented in Organoids: Modelling Organ Development and Disease in 3D culture, Virtual EMBO Conference, 2020. 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". Paper presented in Innovate Competition ¿ AstraZeneca Foundation, 2020. da Rocha, Simão T.; Pereira, Carolina; Ferreira, Catarina; Bak-Gordon P; Milagre, INÊS; Carmo-Fonseca M. "Generation of patient-derived iPSCs for disease modelling". Paper presented in EATRIS Annual Meeting, 2020. 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". Paper presented in 11th Edition of the International Meeting of the Portuguese Society for Stem Cells & Cell Therapies, 2019. 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.". Paper presented in 3rd International Symposium on Frontiers in Molecular Science on RNA Regulatory Networks, 2019. 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". Paper presented in EMBO/EMBL symposium: "The Complex Life of RNA”, 2018. 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". Paper presented in EMBO meeting on “Transcription and Chromatin”, 2018. 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.". Paper presented in Cold Spring Harbor meeting on “Stem Cell Biology”, 2017. 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". Paper presented in EMBO meeting on “Chromatin and Epigenetics”, 2017. da Rocha, Simão T.; Pires, Vanessa Borges; Raposo, Ana Cláudia; Heard, Edith. "Genetic dissection of Xist reveals mechanistic insights of conserved functional RNA domains". Paper presented in Royal Society Meeting on “X-chromosome inactivation: a tribute to Mary Lyon”, 2016. 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.". Paper presented in Epigenesys Meeting, 2013. 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.". Paper presented in Abcam Meeting on “Chromatin: From Structure to Epigenetics”, 2012. 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". Paper presented in Gordon Conference on “Epigenetics”, 2005. 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.". Paper presented in Cold Spring Harbor Laboratory Meeting on “Mouse Molecular Genetics”, 2004.
Encyclopedia entry	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 Simão Teixeira da Rocha; Edith Heard. "Genomic Imprinting at the Transcriptional Level". In eLS, 2011. 10.1002/9780470015902.a0005686.pub2
Journal article	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 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 Camões dos Santos, João; Appleton, Carolina; Cazaux Mateus, Francisca; Covas, Rita; Bekman, Evguenia P.; da Rocha, Simão T.. Corresponding author: 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. Published 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 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 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 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. Published • 10.1042/bst20210253 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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/. 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 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 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 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 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/. 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/. 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 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 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 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 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 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/. 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 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
Newsletter article	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.
Preprint	Mancino, Samantha; da Rocha, Simão T.. "Stability of Genomic Imprinting and X-Chromosome Inactivation in the Aging Brain". 2023. https://www.biorxiv.org/content/10.1101/2023.09.29.560184v1.
Thesis / Dissertation	da Rocha, Simão T.. "The role of Delta-like 1 (Dlk1) in mouse development and metabolism". PhD, University of Cambridge Department of Physiology Development and Neuroscience, 2007.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2023/03/23	A stem cell-based model of Angelman syndrome	Genomic Imprinting - from Biology to Disease Wellcome Connecting Science (Cambridge, United Kingdom)
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, Austria)
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), United Kingdom)
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, France)
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, France)
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, Canada)
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, Germany)
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, Germany)
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, United Kingdom)
2006/11/24	Postnatal metabolic consequences of prenatal over-expression of Dlk1/Pref1 in mouse.	Rank Prize Mini-Symposium in Nutrigenomics Rank Prize (Windemere, United Kingdom)
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, United Kingdom)
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, United States)
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, United Kingdom)

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2024/09/01 - Current	X-chromosome inactivation in systemic lupus erythematosus Co-supervisor of Joana Inácio	Molecular Genetics and Biomedicine (Master) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2024/02/01 - Current	An Isogenic Stem Cell Tool Kit to Advance Therapeutics in Angelman Syndrome Supervisor of João Camões dos Santos	PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (PhD) Universidade de Lisboa Instituto Superior Técnico, Portugal
2023/03 - Current	The role of RNF20/RNF40 in X-chromosome inactivation Supervisor of Mahdi Moradi	Medical Biotechnology (Master) Università degli Studi di Bologna, Italy
2022/09/05 - Current	hiPSC-based brain organoid models to study Angelman syndrome Co-supervisor of Carolina Appletion	MSc in Evolutionary and Developmental Biology (Master) Fundação da Faculdade de Ciências da Universidade de Lisboa, Portugal
2021/04/05 - Current	Assessing the impact of imprinting defects in human iPSCs: Is cell therapy safe? Supervisor of Maria Arez	PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (PhD) Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/03/01 - Current	Modelling Angelman syndrome in CRISPR-edited isogenic iPSCs. Co-supervisor of Alípio Gomes	Biological Engineering (Master) Universidade de Lisboa Instituto Superior Técnico, Portugal
2019/12/01 - Current	Exploiting the role of long non-coding RNAs in the direct conversion of fibroblasts into functional cardiomyocytes and neurons Co-supervisor of Francisco José Furtado Santos	PhD in Biomedical Sciences (PhD) Universidade de Aveiro Departamento de Ciências Médicas, Portugal
2018/12/01 - Current	Functional dissection of the XIST non-coding RNA in X-chromosome inactivation in human ESCs Supervisor of Ana Cláudia Raposo	PhD in Biomedicine (PhD) Universidade de Lisboa Faculdade de Medicina, Portugal
2022/09 - 2023/12/07	Erosion of X-chromosome inactivation in human female embryonic stem cells Supervisor of Joana Jeremias	MSc in Biological Engineering (Master) 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 Supervisor	MSc in Biotechnology Engineering (Master) Universidade de Lisboa Instituto Superior Técnico, Portugal
2023/02 - 2023/07	Epigenetic fidelity of human pluripotent stem cells (iPSCs) Supervisor	Biology: From fundamental molecular biosciences to biotherapies option (Scientific initiation) Sorbonne Université, France
2022/09 - 2023/01	Hypertrophic Cardiomyopathy: generation of patient specific induced pluripotent stem cell derived cardiomyocytes for improved diagnostics and novel therapies Supervisor	Biotechnology (Scientific initiation) 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 Co-supervisor of Laura Dias	Biological Engineering (Master) Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/03 - 2022/07	Epigenetic regulation of X-chromosome inactivation in female human iPSCs Supervisor	BSc in Biological Engineering (Scientific initiation) Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/02/01 - 2022/06/30	Analysis of epigenetic defects in human induced pluripotent stem cells Supervisor	Biochesmitry (Scientific initiation) 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 Co-supervisor of Carina Maranga	PhD Program in Bioengineering – Cell Therapies and Regenerative Medicine (PhD) 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 Co-supervisor of Adriana Vieira	MSc in Molecular Biology and Genetics (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2019/09/01 - 2021/02/06	Editing of the ADORA2A gene by CRISPR/Cas9 Supervisor	Neurosciences (Master) Universidade de Lisboa Faculdade de Medicina, Portugal
2017/01/02 - 2020/12/18	Instability of X-chromosome inactivation in female human iPSCs Supervisor	MSc in Medicine (Master) Universidade de Lisboa Faculdade de Medicina, Portugal
2019/05/01 - 2020/06/24	Characterization of genomic imprinting defects during mouse iPSC generation Supervisor of Tadja Klobucar	MSc in Biotechnology (Master) Univerza v Ljubljani Biotehniska fakulteta, Slovenia
2018/09/01 - 2019/11/06	Functional dissection of the Xist lncRNA conserved sequences in X-chromosome inactivation Supervisor of Cláudia Gil	MSc in Molecular Biology and Genetics (Master) 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 Supervisor of Ana Guerreiro	Biological Engineering (Master) Universidade de Lisboa Instituto Superior Técnico, Portugal
2017/09/01 - 2018/10/15	Comprehensive Evaluation of Genomic Imprinting Stability in Mouse iPSCs Supervisor of Maria Arez	MSc in Molecular Genetics and Biomedicine (Master) 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 Supervisor	MSc in Molecular Biology and Genetics (Master) 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.” Supervisor	Medicine (Scientific initiation) 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). Supervisor	Medicine (Scientific initiation) Universidade de Lisboa Faculdade de Medicina, Portugal
2016/09/01 - 2017/10/30	Exploring cell reprogramming techniques for Angelman syndrome disease modelling Supervisor of Mariana Joaquim	MSc in Molecular Genetics and Biomedicine (Master) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2016/02/01 - 2017/02/28	Monitoring epigenetic stability in induced Pluripotent Stem Cells Supervisor	MSc in Biological Sciences: Molecular diagnostics (Master) Università degli Studi di Napoli Federico II, Italy
2016/02/01 - 2016/11/15	Comprehensive study of the stability of genomic imprinting during iPSC reprogramming Supervisor	MSc in Biomedical Engineering (Master) 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. Supervisor	MSc in Molecular and Cellular Biology (Master) 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 Supervisor	MSc in Molecular Biology and Genetics (Master) Universidade de Lisboa Faculdade de Ciências, Portugal

Event organisation

	Event name Type of event (Role)	Institution / Organization
2021/02 - Current	SCERG seminars - Weekly seminars of the Stem Cell Engineering Research Group (SCERG) featuring internal seminars and invited external speakers. (2021/02) Seminar (President of the Organising Committee)	Universidade de Lisboa Instituto de Bioengenharia e Biociências, Portugal
2019/03/10 - Current	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) Seminar (Co-organisor)	Instituto de Medicina Molecular, Portugal

Event participation

	Activity description Type of event	Event name Institution / Organization
2021/11/06 - Current	1st Open Day IST Taguspark 2021 Other	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 Round table	E_CONVERSAS NA FMUL Universidade de Lisboa Faculdade de Medicina, Portugal

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2023/12/20	Nutritional and aging-associated barriers to cell reprogramming (Thesis) Main arguer	Rafaela Monteiro Dias (Master) Universidade de Aveiro, Portugal
2023/12/05	TERRA-mediated recruitment of SMARCAL1 in response to telomeric replication stress (Thesis) Main arguer	João Pedro Pina Rebelo (Master) Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2023/03/29	Epigenetics and Genetics of hematopoietic stem cells heterogeneity Thesis Member	Nadiya Kubasova (PhD) Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2023/02	Exploring the contribution of transposable elements for the pathogenesis of Rett syndrome (Thesis) Main arguer	Margarida Bettencourt (Other) Universidade de Lisboa Instituto Superior Técnico, Portugal
2022/11	Interplay of TET1 in Wnt signalling in neural induction mediated by TCF7L1 (Thesis) Main arguer	Mariana Schroiff Nogueira Antunes (Master) 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) (Thesis) Main arguer	João Manuel Coelho Carreira (PhD) Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/12/14	Transcriptional Program Biosensors for Human Cell Type and State Diagnosis (Thesis) Main arguer	Benilde Francisco Pondeca (PhD) 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 (Thesis) Main arguer	Inês Cardial Mendes Dias (Master) Universidade de Lisboa Instituto Superior Técnico, Portugal
2021/01/18	TERRA Transcription Profiles in Human Cancer Cells (Thesis) Main arguer	Miguel Filipe Martins Louro Alves (Master) 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 (Thesis) Main arguer	Paula Magda Teixeira Correia (Master) Universidade de Aveiro Departamento de Biologia, Portugal
2019/12/18	How the lncRNA Zeb2-NAT regulates the expression of Zeb2 (Thesis) Main arguer	Miguel Francisco Cruz Romano Guedes (Master) 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 (Thesis) Main arguer	Mariana Simas Faria (Master) Universidade Nova de Lisboa Faculdade de Ciências Médicas, Portugal
2019/11/18	Chronic neuropathic pain: the role for imprinted genes in pain modulation (Thesis) Main arguer	Carlos Daniel Pinheiro da Silva Vasconcelos (Master) Universidade do Porto Faculdade de Medicina, Portugal
2018/10/13	Programmed DNA damage as a new tool to regulate gene activation (Thesis) Main arguer	Cristiana Morgado (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016/11/09	Understanding the role of parasites epitranscriptome (Thesis) Main arguer	João Miguel Barbosa Nina (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016/06/22	A long non-coding RNA regulating cellular reprogramming (Thesis) Main arguer	Sara Azevedo Barros (Master) Universidade de Lisboa Faculdade de Ciências, Portugal
2016/03/12	Analysis of the gene regulatory network underlying pluripotenciality in mouse embryonic stem cells (Thesis) Main arguer	Ana Marisa Mendes Gonçalves Vinhais Guedes (PhD) Universidade de Lisboa Instituto Superior Técnico, Portugal

Conference scientific committee

	Conference name	Conference host
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)

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2021/11/04 - Current	Lecture Ciência Viva: "Células Estaminais e Medicina Regenerativa"	Biology (Ensino secundário)
2020/11/24 - Current	Lecture on "Reversing the aging epigenotype during iPSC Reprogramming"	Aging and Dementia (Doutoramento)	Universidade de Aveiro, Portugal
2020/03/02 - Current	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 - Current	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 - Current	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 - Current	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 - Current	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

Evaluation committee

	Activity description Role	Institution / Organization	Funding entity
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. Evaluator	European Joint Programme on Rare Disease – Networking Support Scheme (NSS) , Belgium	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. Evaluator	Agence nationale de la recherche, France	Agence nationale de la recherche

Journal scientific committee

	Journal title (ISSN)	Publisher
2020/11/05 - Current	Review Editor in Developmental Epigenetics for the Journal Frontiers in Cell and Developmental Biology. (2296634X)

Distinctions

Award

2006	Best oral presentation at Rank Prize Mini-Symposium in Nutrigenomics, Windermere, UK Rank Prize Funds, United Kingdom
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