Liliana da Silva Matos (7F10-A8A8-ACB1)

Curriculum Vitae

Liliana da Silva Matos

My scientific activity has been focused in the field of Health Sciences, particularly in the Human Genetics area. During my degree training in 2006, I worked at Cancer Genetics Group - Research Center from Oncology Portuguese Institute Francisco Gentil - Porto (IPOPFG). I developed a study on the field of bladder cancer. Specifically, I performed the analysis of the methylation pattern of a tumor suppressor genes panel in these neoplasias. The aberrant promoter methylation (i.e., hypermethylation) is an alternative pathway for tumor suppressor gene silencing in many human neoplasias and a promising biomarker for both diagnosis and prognosis of those neoplasms, including the urinary bladder carcinoma. I have evaluated the methylation pattern of seven tumor suppressor genes promoter region in order to identify potential biomarkers to detect and predict bladder tumors as well as to assess the correlation between the frequency and methylation levels with clinicopathological parameters. I have worked with various techniques of molecular biology and genetics. My supervisors in this project were Dr. Carmen Jerónimo, researcher at IPOPFG and Dr. Maria João Sousa, researcher and professor at Biology department, University of Minho (UM). Between the end of 2007 and the beginning of 2010 I worked as Master student at Medical Genetics Center Dr. Jacinto de Magalhães - National Health Institute Dr. Ricardo Jorge (CGMJM-INSA) on Lysosomal Storage Disorders (LSDs), a group of rare inherited metabolic disorders. During this period I studied the splicing mechanisms on IDS gene (Mucopolyssacharidosis II, MPSII, OMIM +309900) through the analysis of a disease-splicing mutation in this gene. I have implemented cloning and transfection techniques to perform the functional analysis of the IDS gene interest region. My supervisors in this project were Dr. Sandra Alves, at the time researcher at CGMJM-INSA and Dr. Rui Oliveira, researcher and professor at Biology department, UM. In April 2016, I finished my PhD in the same area with a thesis entitled - Splicing therapeutics for patients affected by lysosomal storage disorders. The work had as major goals, the genetic analysis and splicing mechanisms comprehension of a panel of gene mutations involved in the pathogenesis of LSDs as well as the design and development of RNA-based therapies for the in vitro correction of the aberrant effects of some of those splicing mutations. My supervisors in PhD work were Dr. Sandra Alves, researcher at Human Genetics Department, LSDs research group, Public Health Center Dr. Gonçalves Ferreira - National Health Institute Dr. Ricardo Jorge/ Center for the Study of Animal Science (INSA/CECA-ICETA) and Dr. Maria João Prata, researcher at IPATIMUP/i3S and professor at Faculty of Sciences - University of Porto. In May 2016, I continue my work at INSA/CECA-ICETA in the LSDs research group headed by Dr. Sandra Alves, now as a post-doc researcher. Between 2016 and the beginning of 2021, I worked as a fellow in a FCT granted project - Application of splicing approaches to exploit alternative therapies for Lysosomal Storage Diseases: in vitro and in vivo studies. Currently, I have a permanent position contract as auxiliary researcher with INSA/CECA-ICETA and I continue to develop work in the RNA therapeutics field. Presently, I am the principal investigator of two scientific projects focused in the development of U1 snRNA modified therapies and antisense oligonucleotide splicing modulation therapies for specific LSDs.

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Identification

Personal identification

Full name: Liliana da Silva Matos

Citation names

Matos, Liliana

Author identifiers

Ciência ID: 7F10-A8A8-ACB1
ORCID iD: 0000-0003-4100-238X

Email addresses

lilma81@gmail.com (Professional)
liliana.matos@insa.min-saude.pt (Professional)

Telephones

Fax

(+351) 223401109 (Professional)

Telephone

(+351) 223401100 Ext.: 2013 (Professional)

Addresses

Rua Alexandre Herculano, 321, 4000-055, Porto, Porto, Portugal (Professional)

Websites

http://www.insa.pt/ (Professional)

Knowledge fields

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

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
Portuguese (Mother tongue)
English	Intermediate (B1)	Advanced (C1)	Advanced (C1)	Intermediate (B1)	Advanced (C1)
Spanish; Castilian	Intermediate (B1)	Intermediate (B1)	Beginner (A1)	Intermediate (B1)	Intermediate (B1)
French	Beginner (A1)	Beginner (A1)	Beginner (A1)	Beginner (A1)	Beginner (A1)

Education

	Degree	Classification
2010/03/01 - 2016/04/05 Concluded	Biologia (Doutoramento) Major in Human Genetics / Molecular Biology (PhD) Universidade do Porto Faculdade de Ciências, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal "Splicing therapeutics for patients affected by lysosomal storage disorders" (THESIS/DISSERTATION)	Approved by unanimity and with distinction
2007/09 - 2010/03/03 Concluded	Mestrado em Genética Molecular (Mestrado) Major in Molecular Genetics (MSc) Universidade do Minho Escola de Ciências, Portugal "Functional analysis of a missense mutation on IDS gene associated to splicing alterations" (THESIS/DISSERTATION)	18
2002/09 - 2006/12/26 Concluded	Biologia Aplicada (Licenciatura) Major in Applied Biology (BSc) Universidade do Minho Escola de Ciências, Portugal "Analysis of the methylation pattern of a panel of tumor suppressor genes in bladder cancer" (THESIS/DISSERTATION)	15

Affiliation

Science

	Category Host institution	Employer
2021/03/15 - Current	Auxiliary Researcher (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2016/05/01 - 2021/03/14	Postdoc (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2010/04/01 - 2016/04/05	Researcher (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2008/07 - 2010/03/03	Research Trainee (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2006/03/01 - 2006/12/26	Research Trainee (Research)	Instituto Português de Oncologia do Porto Francisco Gentil Centro de Investigação, Portugal
	Instituto Português de Oncologia do Porto Francisco Gentil Centro de Investigação, Portugal

Others

	Category Host institution	Employer
2020 - 2023	Participation in SARS-CoV-2 molecular genetics tests	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Projects

Grant

	Designation	Funders
2017 - 2020	Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC Skip 19 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Asociación Nour de Mucolipidosis Concluded
2010/01/01 - 2013/12/31	Splicing Therapeutics for Patients Affected by Lysosomal Storage Disorders SFRH/BD/64592/2009 PhD Student Fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded

Contract

	Designation	Funders
2023/03/01 - 2024/08/29	New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step towards the development of new therapies 2022.03836.PTDC Researcher Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2023/03/01 - 2024/08/29	Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents 2022.04667.PTDC Researcher Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2023/05/02 - 2024/04/01	Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide approach for Mucolipidosis II AL4A-PROJ-LT3.5 Principal investigator Al4animalS - Associate Laboratory for Animal Science and Veterinary, Portugal	Al4animalS - Associate Laboratory for Animal Science and Veterinary Ongoing
2022/01/01 - 2023/12/31	RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases EXPL/BTM-TEC/1477/2021 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2020/01/01 - 2023/12/31	Exploring in vivo U1 snRNA splicing modulation as an alternative therapy for MPS IIIC 2019DGH1642 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	National MPS Society Concluded
2022/01/01 - 2023/12/30	Neurological disease modeling for Mucopolysaccharidosis type III: a key step towards understanding and treating a rare genetic disorder EXPL/BTM-SAL/0659/2021 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2021/05/01 - 2023/04/30	Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II 2020DGH1834 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Portuguese Society of Metabolic Disorders (SPDM) Concluded
2019 - 2022/12/31	Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells 2019DGH1629/SPDM2018I&D Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Portuguese Society of Metabolic Disorders (SPDM) Ongoing
2020 - 2021	Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells Sanfillipo Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Sanfilippo Children's Foundation Concluded
2016/05/01 - 2019/12/31	Application of splicing approaches to exploit alternative therapies for Lysosomal Storage Diseases: in vitro and in vivo studies PTDC/BBB-BMD/6301/2014 Research Fellow Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2014/01/01 - 2014/12/31	Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders SPDM/Genzyme Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Sanofi Genzyme Portugal Concluded
2010/04/01 - 2013/12/31	The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies PTDC/SAU-GMG/102889/2008 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2008/07 - 2009/01	Molecular screening of Mucopolysaccharidosis type II in Portugal: characterization of the mutational spectrum and relationship with clinical phenotypes 99/2007 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Ministério da Saúde Concluded

Outputs

Publications

Book chapter	Matos, Liliana; Santos, Juliana I.; Coutinho, Mª. Francisca; Alves, Sandra. "How to Design U1 snRNA Molecules for Splicing Rescue". In Antisense RNA Design, Delivery, and Analysis, 89-102. Springer US, 2022. Published • 10.1007/978-1-0716-2010-6_5 Coutinho, Maria Francisca; Matos, Liliana; Santos, Juliana Inês; Alves, Sandra. "RNA Therapeutics: How Far Have We Gone?". In Advances in Experimental Medicine and Biology, 133-177. Springer International Publishing, 2019. Published • 10.1007/978-3-030-19966-1_7
Conference abstract	Matos, Liliana. "Matos L, Prata MJ, Pérez B, Alves S. Splicing therapeutics for patients affected by Lysosomal Storage Disorders. 1st CEDOC (Chronic Diseases Research Center) Symposium on Chronic Diseases, Lisbon - Portugal". Lisboa, 2016. Published
Conference paper	Matos, Liliana. "Gonçalves M, Matos L, Santos JI, Coutinho MF, et al. "Generation of mice expressing in the liver human splicing mutations: a good model to test in vivo the therapeutic efficacy of modified U1 snRNAs for Mucopolysaccharidosis type IIIC". Medicine (Proceeding abstracts) 2023, 102:13. 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH). Coimbra – Portugal, 2022". Coimbra, 2023. Published • 10.1097/MD.0000000000033154 Matos, Liliana. "Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, et al. "Help Comes from Unexpected Places: How a Tiny Fairy and a Tropical Fish may help us Model Mucopolysaccharidoses". Endocrine, Metabolic & Immune Disorders - Drug Targets 2023, 24(16):11. 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM). Figueira da Foz – Portugal". Figueira da Foz, 2023. Published Matos, Liliana. "Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, et al. “When folklore meets science: the 21st century baby teeth collector that is helping us SHED light over rare genetic disorders”. Medicine (Proceeding abstracts) 2023, 102:13. 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH). Coimbra – Portugal, 2022". Coimbra, 2022. Published • 10.1097/MD.0000000000033154 Matos, Liliana; Regina Vilela; Maria Francisca Coutinho; Paulo Gaspar; Maria João Prata; Alves, Sandra. "Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. Journal of Integrated OMICS 2018, 8(2): 1-21. 2nd International Caparica Conference in Splicing, Costa da Caparica - Portugal". Costa da Caparica, 2018. Published • 10.5584/jiomics.v8i2.254
Conference poster	Matos, Liliana. "Gonçalves M, Gaspar P, Encarnação M, Moreira L, Santos JI, (...), Matos L§, Alves S§. Restoring N-Acetylglucosamine-1-Phosphotransferase Function in Mucolipidosis II: Antisense Oligonucleotide Exon-skipping Therapeutic Approach. 28th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Porto – Portugal, December. §These authors contributed equally to the work. Presenting author.". 2024. Matos, Liliana. "Matos L§, Gonçalves M§, Ribeiro I, Gaspar P, Encarnação M, Santos JI, Coutinho MF, et al. A Personalized Antisense Oligonucleotide Exon-skipping Therapeutic Approach for Mucolipidosis II. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Porto – Portugal, September. §These authors contributed equally to the work. Presenting author". 2024. Matos, Liliana. "Gonçalves M, Ribeiro I, Gaspar P, Encarnação M, Moreira L, Santos JI, Coutinho MF, Prata MJ, (...), Matos L§, Alves S§. The cellular route of N-acetylglucosamine-1-phosphotransferase and its disruption in Mucolipidosis II: RNA therapy with antisense oligonucleotides as a possible solution. III Meeting AL4animalS, Porto – Portugal. §These authors contributed equally to the work. Presenting author". 2024. Matos, Liliana. "Matos L§, Gonçalves M§, Santos JI, Coutinho MF, Prata MJ, Oliveira P, Omidi M, Pohl S, Alves S. Exploring an antisense oligonucleotide exon-skipping therapeutic strategy for Mucolipidosis II. 19th Annual Meeting of the Oligonucleotide Therapeutics Society, Barcelona – Spain, October 2023. §These authors contributed equally to the work. Presenting author.". 2023. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Developing models and an RNA-based therapy for a rare disease. 2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4animalS), Vila Real - Portugal, May 2023. §These authors contributed equally to the work. Presenting author.". 2023. Matos, Liliana. "Carvalho S, Santos JI, Moreira L, Gaspar P, Gonc¸alves M, Matos L, Encarnac¸a~o M, Ribeiro D, Duarte A, Prata MJ, Coutinho MF, Alves S. The disease modelling value of a folklore FAIRYtale: SHEDing light over a special group of genetic disorders. 2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4animalS), Vila Real - Portugal, May 2023. Presenting author.". 2023. Matos, Liliana. "Gonçalves M, Matos L, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Omidi M, Pohl S, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease. The RE(ACT) Congress – International Congress of Research on Rare and Orphan Diseases, Berlin - Germany, March 2023. Presenting author.". 2023. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. An Antisense Oligonucleotide based therapy for a rare disease: in vitro and in vivo studies. Final Meeting of the COST Action “Delivery of Antisense RNA therapies” (DARTER) – CA17103, Bilbao - Spain, February 2023. §These authors contributed equally to the work. Presenting author.". 2023. Matos, Liliana. "Moreira L, Coutinho MF, Carvalho S, Duarte AJ, Ribeiro D, Santos JI, Gonçalves M, Gaspar P, Amaral O, Encarnação M, Matos L, et al. Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders. Final meeting of the COST Action "Delivery of Antisense RNA Therapeutics" (DARTER) - CA17103, Bilbao - Spain, February 2023. Presenting author.". 2023. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. An Antisense Oligonucletide based therapy for a rare disease: in vitro and in vivo studies. 3rd day of young researcher of National Health Institute Dr. Ricardo Jorge, Lisbon - Portugal, November 2022. §These authors contributed equally to the work. Presenting author.". 2022. Matos, Liliana. "Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Prata MJ, Coutinho MF, Alves S. The disease modelling value of baby teeth: A new way to unlock knowledge about a special group of genetic disorders. 3rd day of young researcher of National Health Institute Dr. Ricardo Jorge, Lisbon - Portugal, November 2022. Presenting author.". 2022. Matos, Liliana. "Moreira L, Coutinho MF, Carvalho S, Duarte AJ, Ribeiro D, Santos JI, Gonçalves M, (...), Matos L, et al. Pluripotent cells and zebrafish: two complementary platforms for modelling Lysosomal Storage Disorders. Congress of Center for Interdisciplinary Research in Animal Health (CIISA) - Innovation in Animal, Veterinary and Biomedical Research, Lisbon – Portugal, November 2022. Presenting author.". 2022. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI§, et al. Generation of mice expressing in the liver human splicing mutations: a good model to test in vivo the therapeutic efficacy of modified U1 snRNAs for Mucopolysaccharidosis type IIIC. 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Coimbra - Portugal, November 2022. §These authors contributed equally to the work. Presenting author.". 2022. Matos, Liliana. "Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Prata MJ, Coutinho MF, Alves S. When folklore meets science: the 21st century baby teeth collector that is helping us SHED light over rare genetic disorders. 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Coimbra - Portugal, November 2022. Presenting author.". 2022. Matos, Liliana. "Matos L§, Gonçalves M§, Santos JI, Coutinho MF, Prata MJ, Omidi M, Pohl S, Alves S. A Personalized antisense oligonucleotide exon-skipping therapeutic approach for Mucolipidosis II. 24th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lancaster - United Kingdom, September 2022. §These authors contributed equally to the work. Presenting author.". 2022. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Innovative methodologies to generate mice expressing in the liver human splicing mutations: good model to test in vivo the efficacy of modified U1 snRNAs. 24th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lancaster - United Kingdom, September 2022. §These authors contributed equally to the wo". 2022. Matos, Liliana. "Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira P, Prata MJ, Coutinho MF, Alves S. RNA as a therapeutic tool in Mucopolysaccharidoses. 24th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lancaster - United Kingdom, September 2022. Presenting author.". 2022. Matos, Liliana. "Moreira L, Santos JI, Gonçalves M, Carvalho S, Encarnação M, Coutinho MF, Matos L, Alves S. Urine Stem Cells as a potential in vitro model for Mucolipidosis type II. 24th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lancaster - United Kingdom, September 2022. Presenting author.". 2022. Matos, Liliana. "Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Prata MJ, Coutinho MF, Alves S. Baby teeth parient-derived stem cells: an innovative model to SHED light over MPS pathology. 24th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lancaster - United Kingdom, September 2022. Presenting author.". 2022. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. A Personalized RNA-based therapy for Mucolipidosis II: in vitro and in vivo studies. III International Meeting of the Portuguese Society of Genetics (SPG), Évora - Portugal, June 2022. §These authors contributed equally to the work. Presenting author.". 2022. Matos, Liliana. "Matos L§, Gonçalves M§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Exploring U1 snRNA splicing modulation as an alternative therapy for MPS IIIC: in vitro and in vivo studies. III International Meeting of the Portuguese Society of Genetics (SPG), Évora - Portugal, June 2022. §These authors contributed equally to the work. Presenting author.". 2022. Matos, Liliana. "Moreira L, Santos JI, Gonçalves M, Carvalho S, Encarnação M, Coutinho MF, Matos L, Alves S. Urine Stem Cells as a potential in vitro model for Mucolipidosis type II. III International Meeting of the Portuguese Society of Genetics (SPG), Évora - Portugal, June 2022. Presenting author.". 2022. "Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira P, Prata MJ, Coutinho MF, Alves S. Assessing the potential of RNA-based therapeutics for a group of Lysosomal Storage Diseases with neurological involvement. 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH). Online meeting. November 2021.". 2021. "Coutinho MF, Santos JI, Carvalho S, Ribeiro D, Gaspar P, Matos L, Duarte AJ, Teles EL, Martins E, Matos PG, Janeiro P, Marques R, Silva A, Prata MJ, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish neurologic Lysosomal Storage Diseases in vitro. 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH). Online meeting. November 2021.". 2021. "Matos L§, Gonçalves M§ Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II a/ß: in vitro and in vivo studies. 25th Annual Meeting of the Portuguese Society of Human Genetics (SPGH). Online meeting. November 2021. §These authors contributed equally to the work. Presenting author.". 2021. "Coutinho MF, Santos JI, Matos L, Teles EL, Martins E, Matos PG, Janeiro P, Marques R, Silva A, Prata MJ, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish neurologic Lysosomal Storage Diseases in vitro - an update. 17th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM). Hybrid meeting. September 2021. Presenting author". 2021. "Matos L§, Gonçalves M§ Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II a/ß: in vitro and in vivo studies. 17th Annual Meeting of the Oligonucleotide Therapeutics Society. Online meeting. September 2021. §These authors contributed equally to the work. Presenting author.". 2021. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II a/ß: in vitro and in vivo studies. 1st Symposium on Oligonucleotide Technologies & Therapeutics @ Portugal – OTP 2021. Online meeting. July 2021. §These authors contributed equally to the work. Presenting author.". 2021. "Santos JI§, Matos L§, Gonçalves M§, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Mutation-adapted U1 snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies. 1st Symposium on Oligonucleotide Technologies & Therapeutics @ Portugal – OTP 2021. Online meeting. July 2021. §These authors contributed equally to the work. Presenting author.". 2021. "Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira PA, Prata MJ, Coutinho MF, Alves S. Targeted RNA-based therapies for Mucopolysaccharidosis. 16th International Symposium on MPS and Related Diseases. Online meeting. July 2021. Presenting author.". 2021. "Gonçalves M§, Matos L§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Mutation-adapted U1 snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies. Jornadas de Ciência. University of Trás-os-Montes and Alto Douro. Online meeting. March 2021. §These authors contributed equally to the work. Presenting author.". 2021. "Gonçalves M§, Matos L§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Mutation-adapted U1 snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies. XXIII National meeting of Biology students. Online meeting. March 2021. §These authors contributed equally to the work. Presenting author.". 2021. Matos, Liliana. "Santos JI§, Matos L§, Gonçalves M, Oliveira PA, Pires MJ, Coutinho MF, Prata MJ, Alves S. From bench to bioterium and back again: Development of a U1 snRNA-based therapeutic strategy for Mucopolysaccharidosis IIIC. 16th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM). Online meeting. §These authors contributed equally to the work. Presenting author". 2020. Matos, Liliana. "Coutinho MF, Santos JI, Matos L, Prata MJ, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish patient-derived MPS III neuronal cell lines. 16th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM). Online meeting. Presenting author". 2020. Matos, Liliana. "Santos JI§, Matos L§, Gonçalves M, Oliveira PA, Pires MJ, Coutinho MF, Prata MJ, Alves S. From bench to bioterium and back again: Development of a U1 snRNA-based therapeutic strategy for Mucopolysaccharidosis IIIC. 3rd International Conference on Sanfilippo Syndrome and Related Diseases. Sanfilippo Foundation Switzerland. Online meeting. §Equal contribution to the work. Presenting author". 2020. Matos, Liliana. "Coutinho MF, Santos JI, Matos L, Prata MJ, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish patient-derived MPS III neuronal cell lines. 3rd International Conference on Sanfilippo Syndrome and Related Diseases. Sanfilippo Foundation Switzerland. Online meeting. Presenting author". 2020. Matos, Liliana. "Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Development of an antisense oligonucleotide based therapy for Mucolipidosis type II a / ß: In vivo studies. Expo Bioterios Virtual. Online Meeting. §These authors contributed equally to the work. Presenting author". 2020. Matos, Liliana. "Coutinho MF, Santos JI, Matos L, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish patient-derived MPS III neuronal cell lines. Genetics Virtual Week 2020. Online Meeting. Presenting author". 2020. Matos, Liliana. "Santos JI§, Matos L§, Gonçalves M, Oliveira PA, Pires MJ, Coutinho MF, Prata MJ, Alves S. From bench to bioterium and back again: Development of a U1 snRNA-based therapeutic strategy for Mucopolysaccharidosis IIIC. Genetics Virtual Week 2020. Online Meeting. §These authors contributed equally to the work. Presenting author". 2020. Matos, Liliana. "Gonçalves M, Ribeiro C, Reis R, Silva C, Matos L, Alves S, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Martins T, Oliveira P. Hydrodynamic injection in C57BL/6J mice: lateral effects. XII Jornadas de Genética e Biotecnologia. University of Trás-os-Montes and Alto Douro. Vila Real - Portugal. Presenting author". 2020. Matos, Liliana. "Matos L§, Santos JI§, Gonçalves M, Oliveira PA, Pires MJ, Coutinho MF, Prata MJ, Alves S. From bench to bioterium and back again: Development of a U1 snRNA-based therapeutic strategy for Mucopolysaccharidosis IIIC. XII Jornadas de Genética e Biotecnologia. University of Trás-os-Montes and Alto Douro. Vila Real - Portugal. §These authors contributed equally to the work. Presenting author". 2020. Matos, Liliana. "Coutinho MF, Santos JI, Matos L, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, a method to establish patient-derived MPS III neuronal cell lines. XLVIII Conferências de Genética Doutor Jacinto Magalhães. Porto - Portugal. Presenting author". 2020. Matos, Liliana. "Matos L, Santos JI, Rocha M, Coutinho MF, Gaspar P, Velho RV, Braulke T, Prata MJ, Alves S. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 1st National Congress of Rare Diseases – Past, Present and Future, Sintra - Portugal. Presenting author". 2019. Matos, Liliana. "Matos L, Santos JI, Rocha M, Coutinho MF, Gaspar P, Velho RV, Braulke T, Prata MJ, Alves S. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. II Spanish Meeting on Oligonucleotide Therapeutics, Valencia - Spain. Presenting author". 2019. Matos, Liliana. "Matos L, Santos JI, Rocha M, Coutinho MF, Gaspar P, Velho RV, Braulke T, Prata MJ, Alves S. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 22nd ESGLD (European Study Group on Lysosomal Diseases) Workshop, Catalonia - Spain. Presenting author". 2019. Matos, Liliana. "Matos L§, Santos JI§, Rocha M, Coutinho MF, Prata MJ, Alves S. The use of a modified U1 snRNA as a therapeutic strategy to correct a 5’ splice-site mutation in Mucopolysaccharidosis IIIC: in vitro steps towards an in vivo approach. 15th Annual Meeting of the Oligonucleotide Therapeutics Society, Munich - Germany. §These authors contributed equally to the work. Presenting author". 2019. Matos, Liliana. "Santos JI§, Matos L§, Rocha M, Coutinho MF, Prata MJ, Alves S. The use of a modified U1 snRNA as a therapeutic strategy to correct a 5’ splice-site mutation in Mucopolysaccharidosis IIIC: in vitro steps towards an in vivo approach. 15th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Coimbra - Portugal. §These authors contributed equally to the work. Pres. Author". 2019. Matos, Liliana. "Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. Inaugural meeting of the “Delivery of Antisense RNA Therapies (DARTER)” COST Action CA17103, Bilbao - Spain. Presenting author". 2019. Matos, Liliana. "Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. VIII National RNA Meeting: ptRNA2019, Porto - Portugal. Presenting author". 2019. Matos, Liliana. "Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. 52nd European Human Genetics Conference, Milan - Italy. Presenting author". 2018. Matos, Liliana. "Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. The Translational Science of Rare Diseases – From Rare to Care III, Tutzing - Germany. Presenting author". 2018. Matos, Liliana. "Coutinho MF§, Encarnação M§, Santos JI, Matos L, Alves S. Molecular Characterization of a Novel Mucopolysaccharidosis (MPS) type VI-causing Mutation – Indirect Proof of Principle on its Pathogenicity. 14th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Porto - Portugal. §These authors contributed equally to the work. Presenting author". 2018. Matos, Liliana. "Encarnação M, Coutinho MF, Matos L, Silva L, Ribeiro D, Nogueira C, Vilarinho L, Alves S. Next Generation Sequencing and Lysosomal Dysfunction ¿ Novel mutations associated with Neurodegenerative disorders. 14th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Porto - Portugal. Presenting author. Oral Poster Communication". 2018. Matos, Liliana. "Matos L, Vilela R, Coutinho F, Gaspar P, Alves S. Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_3504delTC. 21st ESGLD (European Study Group on Lysosomal Diseases) Workshop, Lyon - France. Presenting author". 2017. Matos, Liliana. "Matos L, Vilela R, Coutinho F, Gaspar P, Alves S. Use of an antisense-mediated exon skipping approach as a therapeutic option for a common Mucolipidosis type II causing mutation. 13th Annual Meeting of the Oligonucleotide Therapeutics Society, Bordeaux - France. Presenting author.". 2017. Matos, Liliana. "Alves S, Desviat LR, Pérez B, Matos LS. Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders. 11th Annual Meeting of the Oligonucleotide Therapeutics Society, Leiden - Netherlands. Presenting author". 2015. Matos, Liliana. "Matos LS, Duarte AJ, Jordan P, Prata MJ, Chaves J, Amaral O, Alves S. Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene. 9th Annual Meeting of the Oligonucleotide Therapeutics Society, Naples - Italy. Presenting author". 2013. Matos, Liliana. "Matos LS, Jordan P, Prata MJ, Lacerda L, Desviat LR, Ugarte M, Pérez B, Alves S. Adapted U1 snRNA overexpression as a therapeutic strategy to correct a 5’ splice-site mutation in Mucopolysaccharidosis IIIC. 1st Post-EURASNET Symposium - Regulation of gene expression through RNA splicing, Trieste - Italy. Presenting author". 2012. Matos, Liliana. "Matos LS, Gonçalves V, Jordan P, Prata MJ, Lacerda L, Desviat LR, Ugarte M, Pérez B, Alves S. Functional analysis of three splicing mutations identified in the IDS gene: towards splicing mechanism comprehension and development of a splicing based therapy for Mucopolysaccharidosis type II. 8th International Symposium of the Portuguese Society of Metabolic Disorders, Porto - Portugal. Pres. Author". 2011. Matos, Liliana. "Matos LS, Gonçalves V, Jordan P, Prata MJ, Lacerda L, Desviat LR, Ugarte M, Pérez B, Alves S. Functional analysis of three splicing mutations identified in the IDS gene: towards splicing mechanism comprehension and development of a splicing based therapy for Mucopolysaccharidosis type II. 17th ESGLD (European Study Group on Lysosomal Diseases) Workshop, Långvik - Finland. Pres. Author". 2011. Matos, Liliana. "Matos LS, Gonçalves V, Prata MJ, Jordan P and Alves S. Functional analysis of two mutations in the IDS gene associated to splicing alterations. 14th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Coimbra - Portugal. Presenting author.". 2010. Matos, Liliana. "Matos LS, Gonçalves V, Prata MJ, Jordan P and Alves S. Functional analysis of a missense mutation in the IDS gene associated to splicing alterations. RNA Mis-Splicing: Disease and Therapeutics. EURASNET Interdisciplinary Focus Meeting, Cambridge - UK. *Presenting author.". 2010.
Journal article	Santos, Juliana Inês; Gonçalves, Mariana; Almeida, Matilde Barbosa; Rocha, Hugo; Duarte, Ana Joana; Matos, Liliana; Moreira, Luciana Vaz; et al. "mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis". International Journal of Molecular Sciences 26 3 (2025): 1273. https://doi.org/10.3390/ijms26031273. Open access • Published • 10.3390/ijms26031273 Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnação, Marisa; et al. "Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients". International Journal of Molecular Sciences 25 6 (2024): 3546. https://doi.org/10.3390/ijms25063546. Open access • Published • 10.3390/ijms25063546 Gonçalves, Mariana; Santos, Juliana Inês; Coutinho, Maria Francisca; Matos, Liliana; Alves, Sandra. "Development of Engineered-U1 snRNA Therapies: Current Status". International Journal of Molecular Sciences 24 19 (2023): 14617. http://dx.doi.org/10.3390/ijms241914617. Open access • Published • 10.3390/ijms241914617 Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, Sandra; Coutinho, Maria Francisca. "Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses". Biomedicines 11 4 (2023): 1234. http://dx.doi.org/10.3390/biomedicines11041234. Open access • Published • 10.3390/biomedicines11041234 Santos, Juliana Inês; Gonçalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria João; Coutinho, Maria Francisca; Alves, Sandra. "Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example". Life 12 5 (2022): 608. http://dx.doi.org/10.3390/life12050608. Open access • Published • 10.3390/life12050608 Coutinho, Maria Francisca; Santos, Juliana Inês; S. Mendonça, Liliana; Matos, Liliana; Prata, Maria João; S. Jurado, Amália; Pedroso de Lima, Maria C.; Alves, Sandra. "Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach". International Journal of Molecular Sciences 21 16 (2020): 5732. http://dx.doi.org/10.3390/ijms21165732. Open access • Published • 10.3390/ijms21165732 Matos, Liliana; Vilela, Regina; Rocha, Melissa; Santos, Juliana Inês; Coutinho, Maria Francisca; Gaspar, Paulo; Prata, Maria João; Alves, Sandra. "Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: validation at RNA level". Human Gene Therapy (2020): http://dx.doi.org/10.1089/hum.2020.034. Published • 10.1089/hum.2020.034 Coutinho, Maria Francisca; Encarnação, Marisa; Matos, Liliana; Silva, Lisbeth; Ribeiro, Diogo; Santos, Juliana Inês; Prata, Maria João; Vilarinho, Laura; Alves, Sandra. "Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI—Indirect Proof of Principle on Its Pathogenicity". Diagnostics 10 2 (2020): 58. http://dx.doi.org/10.3390/diagnostics10020058. Open access • Published • 10.3390/diagnostics10020058 Matos, Liliana; Duarte, Ana; Ribeiro, Diogo; Chaves, João; Amaral, Olga; Alves, Sandra. "Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy". Genes 9 9 (2018): 455. http://dx.doi.org/10.3390/genes9090455. Open access • Published • 10.3390/genes9090455 Maria Francisca Coutinho; Santos, Juliana; Matos, Liliana; Alves, Sandra. "Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders". Diseases 4 4 (2016): http://www.mdpi.com/2079-9721/4/4/33. Open access • Published • 10.3390/diseases4040033 Matos, L.; Gonçalves, V.; Pinto, E.; Laranjeira, F.; Prata, M.J.; Jordan, P.; Desviat, L.R.; Pérez, B.; Alves, S.. "Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II". Biochimica et Biophysica Acta - Molecular Basis of Disease 1852 12 (2015): 2712-2721. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943645882&partnerID=MN8TOARS. Open access • Published • 10.1016/j.bbadis.2015.09.011 Matos, L.; Gonçalves, V.; Pinto, E.; Laranjeira, F.; Prata, M.J.; Jordan, P.; Desviat, L.R.; Pérez, B.; Alves, S.. "Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II". Data in Brief 5 (2015): 810-817. http://www.scopus.com/inward/record.url?eid=2-s2.0-84943605593&partnerID=MN8TOARS. Open access • Published • 10.1016/j.dib.2015.10.011 Coutinho, M.F.; Matos, L.; Alves, S.. "From bedside to cell biology: A century of history on lysosomal dysfunction". Gene 555 1 (2015): 50-58. http://www.scopus.com/inward/record.url?eid=2-s2.0-84918834061&partnerID=MN8TOARS. Published • 10.1016/j.gene.2014.09.054 Matos, Liliana; Canals, Isaac; Dridi, Larbi; Choi, Yoo; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R; et al. "Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations". Orphanet Journal of Rare Diseases 9 180 (2014): http://dx.doi.org/10.1186/s13023-014-0180-y. Open access • Published • 10.1186/s13023-014-0180-y
Newsletter article	Matos, Liliana. "INSA and emergency response to the laboratory diagnosis of COVID-19 in Portugal - Emergency response teams for the laboratory diagnosis of COVID-19 at National Health Institute", Epidemiological bulletin - Observações, 2020 Maria Francisca Coutinho; Duarte, Ana Joana; Matos, Liliana; Santos, Juliana; Amaral, Olga; Alves, Sandra. "Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016)", Epidemiological bulletin - Observações, 2016
Thesis / Dissertation	Matos, Liliana. "Splicing therapeutics for patients affected by lysosomal storage disorders". PhD, Universidade do Porto Faculdade de Ciências, 2016. Matos, Liliana. "Functional analysis of a missense mutation on IDS gene associated to splicing alterations". Master, Universidade do Minho Escola de Ciências, 2010. Matos, Liliana. "Analysis of the methylation pattern of a panel of tumor suppressor genes in bladder cancer". Degree, Universidade do Minho Escola de Ciências, 2006.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2024/12	Peretto L, Gonçalves M, Santos JI, Coutinho MF, Pinotti M, Balestra D, Alves S, Matos L. A 5’ splice-site Mutation Causing Mucolipidosis type III can be Efficiently Rescued by U1 snRNA-based Therapy. 28th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Porto – Portugal, December 2024.	(Porto, Portugal)
2024/05	Addressing a Challenging Enzyme in Vitro: Proof of Principle on the Therapeutic Potential of an Antisense Oligonucleotide Approach for Mucolipidosis II. III Meeting AL4animalS, Porto – Portugal, May 2024.	(Porto, Portugal)
2023/11	Santos JI, Gonçalves M, Carvalho S, Matos L, Gaspar P, Prata MJ, Coutinho MF, Alves S. A promising substrate reduction approach for a rare genetic disease: mucopolysaccharidoses type III. 27ª Reunião anual da SPGH. Lisboa. November 2023	(Portugal)
2023/10	Santos JI, Almeida M, Gonçalves M, Carvalho S, Matos L, Gaspar P, Rocha H, Prata MJ, Coutinho MF, Alves S. Antisense oligonucleotides as a highly promising class of drugs for the treatment of a rare genetic disease. Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, October 2023.	(Portugal)
2023/10	Gonçalves M, Matos L, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Omidig M, Pohl S, Alves S. RNA-Based therapies and disease models for Mucolipidosis II. Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, October 2023.
2023/10	Moreira L, Carvalho S, Santos JI, Gaspar P5, Rocha H, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenção Oliveira J, Santos M, Alves S#, Coutinho MF#,. A Practical Guide on how to generate F0 Crispant Zebrafish: from the sketch to the tank I AL4AnimalS Thematic Meeting \|Porto (Portugal) \| October, 2023. # these authors equally contributed to this work presenting author	(Portugal)
2023/10	Moreira L; Duarte AJ; Coutinho MF; Moutinho ME; Gonçalves M; Martinez O; Matos L; Santos JI; Carvalho S; Encarnação M; David H; Ribeiro D; Amaral O; Santos M; Gaspar P; Alves S. "Using CRISPR/Cas9 knock-in to generate new models for Mucolipidosis type II: isogenic iPSCs and mutation-specific zebrafish. Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, October 2023.
2023/10	Moutinho ME; Duarte AJ; Gonçalves M; Coutinho MF; Carvalho S; Matos L; Santos JI; Encarnação M; David H; Ribeiro D; Amaral O; Gaspar P; Alves S; Moreira L. "Generating an iPSC model for Mucolipidosis II". Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto. October 2023
2023/07	Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Diogo L, Ferreira S, Santos C, Martins E, Neuparth T, Soares J, Ribeiro M, Pinho B, Oliveira N, Oliveira JMA, Prata MJ, Santos M, Alves S#, Coutinho MF#,. Investigação básica e translacional: aprofundar o conhecimento fisiopatológico. MPS 360 \| Porto (Portugal) \| September, 2023 # these authors equally contributed to this work presenting author	(Portugal)
2023/07	Moreira L, Coutinho MF, Duarte A, Gonçalves M, Moutinho ME, Gaspar P, Carvalho S, Santos J, Matos L, Amaral O, Sandra Alves. "Modelling Lysosomal Storage Disorders using iPSCs and gene-edited zebrafish". Seminários DGH, INSA, Online. September 2023.	(Portugal)
2023/05	Moreira L, Coutinho MF, Duarte AJ, Gaspar P, Carvalho S, Santos JI, Gonçalves M, Matos L, Amaral O, Alves S. Generating gene-edited models for Lysosomal Storage Disorders. 2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4animalS), Vila Real - Portugal, May 2023. Presenting author.
2023/05	Moreira L*, Coutinho MF, Duarte A, Gaspar P, Carvalho S, Santos J, Gonçalves M, Matos L, Amaral O, Alves S. "iPSCs and zebrafish for modeling Lysosomal Storage Disorders". Online Seminar COST Darter CA17103. May 2023
2023/05	Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Coutinho MF, Alves S. How to establish stem cell cultures from the dental pulp: a practical guide. 2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4animalS), Vila Real - Portugal, May 2023. Presenting author.
2023/05	Moreira L, Coutinho MF, Duarte AJ, Gaspar P, Carvalho S, Santos JI, Gonçalves M, Matos L, Amaral O, Alves S. Generating gene-edited models for Lysosomal Storage Disorders. 2nd Meeting of the Associate Laboratory for Animal and Veterinary Sciences (AL4animalS), Vila Real - Portugal, May 2023. Presenting author.
2023/04	Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação, Ribeiro D, Duarte AJ, Prata MJ, Coutinho MF, Alves S. The Tooth Fairy that’s SHEDing hope for Rare Lysosomal Disorders. VI Center for the study of animal science (CECA) meeting. Casa de Vilar Porto Hotel, Porto - Portugal, April 2023. Presenting author.
2023/04	Moreira L, Coutinho MF, Martinez O, Neuparth T, Ribeiro M, Pinho B, Oliveira N, Gaspar P, Carvalho S, Santos JI, Gonçalves M, Matos L, David H, Encarnação M, Oliveira J, Santos M, Alves S. Gene-edited zebrafish: a promising animal model for Lysosomal Storage Disorders and beyond. VI Center for the study of animal science (CECA) meeting. Casa de Vilar Porto Hotel, Porto - Portugal, April 2023. Presenting author.
2023/04	Santos JI, Gonçalves M, Carvalho S, Matos L, Gaspar P, Prata MJ, Coutinho MF, Alves S. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. VI Center for the study of animal science (CECA) meeting. Casa de Vilar Porto Hotel, Porto - Portugal, April 2023. Presenting author.
2023/04	Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Developing models and an RNA-based therapy for a rare disease. VI Center for the study of animal science (CECA) meeting. Casa de Vilar Porto Hotel, Porto - Portugal, April 2023. §These authors contributed equally to the work. Presenting author.
2023/04	Duarte AJ, Ribeiro D, David H, Santos JI, Matos L, Moreira L, Coutinho MF, Gonçalves M, Figueira P, Amaral O, Carvalho S, Alves S. Inherited metabolic diseases in humans and in animals: mechanisms and therapies. VI Center for the study of animal science (CECA) meeting. Casa de Vilar Porto Hotel, Porto - Portugal, April 2023. Presenting author.
2023/03	Coutinho MF, Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Diogo L, Ferreira S, Santos C, Martins E, Neuparth T, Soares J, Ribeiro M, Ribeiro Pinho B, Oliveira N, Ascenc¸a~o Oliveira J, Prata MJ, Santos M, Alves S. Help comes from unexpected places: How a tiny fairy and a tropical fish may help us model mucopolysccharidoses. 19th International Symposium of the Portuguese Society for Metabolic Disorders (SPDM), Figueira da Foz – Portugal, March 2023. Pres. author
2023/02	Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease. 53rd meeting of Portuguese Society of Farmacology (SPF), 41st Meeting of Clinical Pharmacology and 22nd Meeting of Toxicology, Porto - Portugal, February 2023. §These authors contributed equally to the work. Presenting author.
2023/02	Moreira L, Coutinho MF, Martinez O, Neuparth T, Ribeiro M, Pinho B, Oliveira N, Gaspar P, Carvalho S, Santos JI, Gonçalves M, Matos L, David H, Encarnação M, Oliveira J, Santos M, Alves S. CRISPR-Cas9 in zebrafish for generation of a knock-out model for MPS III (Sanfilippo Syndrome). Final meeting of the COST Action "Delivery of Antisense RNA Therapeutics" (DARTER) - CA17103, Bilbao - Spain, February 2023. Presenting author.
2023/02	Matos L, López-Martínez A, Detassis S. DARTER online seminars. Final meeting of the COST Action "Delivery of Antisense RNA Therapeutics" (DARTER) - CA17103, Bilbao - Spain, February 2023. Presenting author.
2023/02	Matos L§, Gonçalves M§, Santos JI, Coutinho MF, Prata MJ, Omidi M, Pohl S, Alves S. Exploring an antisense oligonucleotide exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. Final meeting of the COST Action "Delivery of Antisense RNA Therapeutics" (DARTER) - CA17103, Bilbao - Spain, February 2023. §These authors contributed equally to the work. Presenting author.
2022/11	Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira P, Prata MJ, Coutinho MF, Alves S. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. 3rd day of young researcher of National Health Institute Dr. Ricardo Jorge, Lisbon - Portugal, November 2022. Presenting author.
2022/11	Matos L§, Gonçalves M§, Santos JI, Coutinho MF, Prata MJ, Omidi M, Pohl S, Alves S. A personalized antisense oligonucleotide exon-skipping therapeutic approach for Mucolipidosis II. Congress of Center for Interdisciplinary Research in Animal Health (CIISA) – Innovation in Animal, Veterinary and Biomedical Research, Lisbon - Portugal, November 2022. §These authors contributed equally to the work. Presenting author.
2022/11	Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira P, Prata MJ, Coutinho MF, Alves S. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. Congress of Center for Interdisciplinary Research in Animal Health (CIISA) – Innovation in Animal, Veterinary and Biomedical Research, Lisbon - Portugal, November 2022. Presenting author.
2022/11	Carvalho S, Santos JI, Moreira L, Gaspar P, Gonçalves M, Matos L, Encarnação, Ribeiro D, Duarte AJ, Prata MJ, Coutinho MF, Alves S. Modelling genetic disorders with an unexpected co-worker: the Tooth Fairy that gifts hope to both children and scientists. Congress of Center for Interdisciplinary Research in Animal Health (CIISA) – Innovation in Animal, Veterinary and Biomedical Research, Lisbon - Portugal, November 2022. Presenting author.
2022/10	Matos L, Coutinho MF, Alves S. Lecture entitled “Nucleic Acid Therapies: our experience in Lysosomal Storage Diseases” in the training school “Introduction to Nucleic Acid Therapy” from the COST action CA17103 (DARTER) at National Health Institute Dr. Ricardo Jorge, Porto, October 2022.
2022/06	Carvalho S, Santos JI, Ribeiro D, Moreira L, Duarte AJ, Encarnação M, Gaspar P, Gonçalves M, Matos L, Prata MJ, Pereira de Almeida L, Coutinho MF, Alves S. The 2020s Tooth Fairy: from loose tooth to neuronal cell cultures, an innovative method for in vitro genetic disease modeling of a rare neurological disorder. III International Meeting of the Portuguese Society of Genetics (SPG), Évora - Portugal, June 2022. Presenting author.
2022/02	Gonçalves M§, Matos L§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Mutation-adapted U1 snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies. 52nd meeting of Portuguese Society of Farmacology (SPF), 39th Meeting of Clinical Pharmacology and 21st Meeting of Toxicology, Porto - Portugal, February 2022. §These authors contributed equally to the work. Presenting author.
2021/10	Coutinho MF, Santos JI, Carvalho S, Gaspar P, Gonçalves M, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Amaral O, Rocha H, Prata MJ, Alves S. Uma fada minúscula e um peixe tropical: heróis improváveis na luta contra uma doença rara. V Jornadas Científicas do Centro de Estudos de Ciência Animal (CECA). Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Porto – Portugal, October 2021.
2021/10	Encarnação M, Marcão A, Vieira L, Silva C, Coutinho MF, Silva L, Ribeiro D, Santos JI, Matos L, Ribeiro I, Quelhas D, Alves S. Impedimento do tráfico do colesterol e assinaturas genéticas: lições de uma doença rara neurodegenerativa. V Jornadas Científicas do Centro de Estudos de Ciência Animal (CECA). Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Porto – Portugal, October 2021.
2021/10	Matos L, Coutinho MF, Santos JI, Gonçalves M, Duarte AJ, Ribeiro D, Moreira L, Encarnação M, Gaspar P, Amaral O, Carvalho S, Alves S. RNA como alvo terapêutico: desenvolvimento de abordagens inovadoras utilizando oligonucleótidos sintéticos. V Jornadas Científicas do Centro de Estudos de Ciência Animal (CECA). Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Porto – Portugal, October 2021.
2021/10	Matos L, Gonçalves M, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. E se a retirada de um exão pudesse ter um efeito terapêutico? Caminhos de uma abordagem terapêutica molecular para uma doença rara através de exon-skipping. V Jornadas Científicas do Centro de Estudos de Ciência Animal (CECA). Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Porto – Portugal, October 2021.
2021/09	Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira P, Prata MJ, Coutinho MF, Alves S. Targeted RNA-based therapies for Mucopolysaccharidosis. 17th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM). Hybrid meeting. September 2021.
2021/04	Gonçalves M§, Matos L§, Santos JI§, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. Mutation-adapted U1 snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies. XIII Jornadas de Genética e Biotecnologia / III Jornadas Ibéricas de Genética y Biotecnología. Online meeting. April 2021. §These authors contributed equally to the work. Presenting author.
2021/03	Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II a/ß: in vitro and in vivo studies. Jornadas de Ciência. University of Trás-os-Montes and Alto Douro. Online meeting. March 2021. §These authors contributed equally to the work. Presenting author.
2021/02	Gonçalves M§, Matos L§, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira P, Alves S. Development of an antisense oligonucleotide based therapy for Mucolipidosis type II a/ß: in vivo studies. 51st meeting of SPF (Portuguese Society of Farmacology), 38th Meeting of Clinical Pharmacology and 20th Meeting of Toxicology – Faculty of Pharmacy of the University of Lisbon. Online Meeting. February 2021. §These authors contributed equally to the work. Presenting author.	(Lisbon, Portugal)
2020/11	Coutinho MF, Santos JI, Mendonça LS, Matos L, Prata MJ, Jurado AS, Pedroso de Lima MC, Alves S. Lysosomal Storage Disease-associated neuropathy: targeting stable nucleic acid lipid particle (SNALP)-formulated siRNAs to the brain as a therapeutic approach: The Sanfilippo Syndrome example. 3rd International Conference on Sanfilippo Syndrome and Related Diseases. Sanfilippo Foundation Switzerland. Online meeting. Presenting author	(Switzerland)
2019/03	Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. Cold Spring Harbor Laboratory meeting on RNA & Oligonucleotide Therapeutics, Cold Spring Harbor, New York – United States of America. Presenting author	(Nova Iorque, United States)
2018/07	Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. 2nd International Caparica Conference in Splicing, Costa da Caparica - Portugal. Presenting author	(Costa da Caparica, Portugal)
2018/03	Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. 14th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Porto - Portugal. Presenting author	(Porto, Portugal)
2017/11	Matos L, Vilela R, Coutinho MF, Gaspar P, Prata MJ, Alves S. Development of an antisense-mediated exon skipping therapeutic strategy to correct a frequent causing mutation in Mucolipidosis II. 21st Annual Meeting of the Portuguese Society of Human Genetics (SPGH), Almada - Portugal. Presenting author	(Almada, Portugal)
2017/05	Matos L, Prata MJ, Alves S. Splicing therapeutics for patients affected by Lysosomal Storage Disorders. 2nd day of young researcher of National Health Institute Dr. Ricardo Jorge, Lisbon - Portugal. Presenting author	(Lisboa, Portugal)
2017/03	Matos L, Alves S. Development of antisense U1 snRNA-mediated therapeutic strategies to modulate splicing in lysosomal storage disorders. Final meeting of the "Networking towards clinical application of antisense-mediated exon skipping” COST action BM1207, Porto - Portugal. Presenting author	(Porto, Portugal)
2017/03	Coutinho MF, Santos JI, Matos L, Alves S. Genetically modulated SRT therapy. 11th Brains4Brain Workshop, Frankfurt - Germany. Presenting author	(Frankfurt, Germany)
2016/03	Matos L, Coutinho F, Duarte J, Santos JI, Amaral O, Alves S. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 12th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Coimbra - Portugal. Presenting author	(Coimbra, Portugal)
2015/03	Matos L, Alves S. Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5' splicing defects in lysosomal storage disorders. 11th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Porto - Portugal. Presenting author	(Porto, Portugal)
2014/03	Matos L, Duarte AJ, Ribeiro D, Jordan P, Prata MJ, Chaves J, Desviat LR, Pérez B, Amaral O, Alves S. Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene. 10th International Symposium of the Portuguese Society of Metabolic Disorders (SPDM), Cascais - Portugal. Presenting author	(Cascais, Portugal)
2010/09	Matos L. Lecture entitled - Cloning: a diverse and controversial theme in a seminar to students attending an EFA (Education and Formation for Adults) course in Medical Genetics Center Dr. Jacinto de Magalhães - National Health Institute Dr. Ricardo Jorge, Porto	(Porto, Portugal)

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2023/01 - Current	Innovative & personalized RNA-based therapies for rare diseases and development of models for their testing: application to Mucolipidosis II Co-supervisor of Mariana Mendes Gonçalves	PhD in Chemical and Biological Sciences (PhD) Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal Universidade de Trás-os-Montes e Alto Douro Centro de Investigação e de Tecnologias Agro-Ambientais e Biologicas, Portugal
2017/09 - Current	RNA-based therapies for Mucopolysaccharidoses Co-supervisor of Juliana Inês Pinto dos Santos	PhD in Biology (PhD) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Faculdade de Ciências, Portugal
2024/05/01 - 2024/07/31	Development of a U1 snRNA-modified gene therapeutic strategy to correct 5’ splice-site defects in Lysosomal Storage Disorders Supervisor of Laura Peretto	PhD internship (Other) Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
2020/01 - 2022/03	In vivo validation studies of RNA-based therapeutic approaches for Lysosomal Storage Diseases Co-supervisor of Mariana Mendes Gonçalves	Master in Clinical and Laboratorial Biology (Master) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade de Trás-os-Montes e Alto Douro Centro de Investigação e de Tecnologias Agro-Ambientais e Biologicas, Portugal
2016/09 - 2017/12	Development of an antisense-mediated exon skipping therapeutic strategy for Mucolipidosis II Co-supervisor of Regina Filipa Machado Vilela	Master in Cellular and Molecular Biology (Master) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Faculdade de Ciências, Portugal
2013/07 - 2013/12	Volunteer training in human molecular genetics Co-supervisor of Liliana Alexandra Marques de Castro	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal

Event organisation

	Event name Type of event (Role)	Institution / Organization
2022/10/17 - 2022/10/21	Member of the Organizing Committee of the Training School - Introduction to nucleic acid therapy, integrated into the European COST Action CA17103 (DARTER) (2022/10/17 - 2022/10/21) Workshop (Member of the Organising Committee)	Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
2021/07/08 - 2021/07/09	Member of the Organizing Committee of the 1st Symposium on Oligonucleotide Technologies and Therapeutics @ Portugal (OTP 2021) - Virtual Meeting (2021/07/08 - 2021/07/09) Symposium (Member of the Organising Committee)	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/12 - 2020/12	Member of the Organizing Committee of the Exhibition - Do Passado ao Futuro, Genética Humana, designed as part of the 120th anniversary celebrations of National Health Institute Dr. Ricardo Jorge (2019/12) Exhibition (Member of the Organising Committee)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020/02/03 - 2020/02/07	Member of the Organizing Committee of the Training School - The guide to antisense therapy development, integrated into the European COST Action CA17103 (DARTER) (2020/02/03 - 2020/02/07) Workshop (Member of the Organising Committee)	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017/03 - 2017/03	Member of the Organizing Committee of the Final Meeting Symposium of the European COST action BM1207 - Porto (2017/03 - 2017/03) Symposium (Member of the Organising Committee)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2010 - 2014	Member of the Organizing Committee of the Open laboratory week, in National Health Institute Dr. Ricardo Jorge, Porto (2010 - 2014) Workshop (Member of the Organising Committee)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2005 - 2005	Member of the Organizing Committee of the VII Meeting of Applied Biology, University of Minho, Braga (2005 - 2005) Conference (Member of the Organising Committee)	Universidade do Minho Escola de Ciências, Portugal

Event participation

	Activity description Type of event	Event name Institution / Organization
2022/10/17 - 2022/10/21	DARTER training school - Introduction to nucleic acid therapy organized by COST Action DARTER CA17103 Workshop	Instituto Nacional de Saúde Doutor Ricardo Jorge Porto, Portugal
2022/07/08 - 2022/07/29	IX CELL CULTURE AND TISSUE TRAINING COURSE Workshop	Centro de Investigação em Meio Ambiente Genética e Oncobiologia, Portugal
2021/05/10 - 2021/05/14	DARTER training school - Communicating research to stakeholders organized by COST Action DARTER CA17103. Online workshop. Workshop
2020/09/23 - 2020/10/08	Online course: Comunicar Ciência Clara - How to comunicate science to the general public Other	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020/02/03 - 2020/02/07	DARTER Training School - The Guide to Antisense Therapy Development organized by COST Action DARTER CA17103 Workshop	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019/01/13 - 2019/01/16	DARTER Winter School on Nucleic Acid Chemistry and Therapy organized by COST Action DARTER CA17103 Workshop	Karolinska Institutet, Sweden
2017/01/30 - 2017/03/03	Short Term Scientific Mission in COST Action BM1207: Learning of lentivirus handling and transduction techniques for the development of antisense U1 snRNA-mediated therapeutic strategies to modulate splicing in Lysosomal Storage Disorders. Other	Carl von Ossietzky Universität Oldenburg, Germany
2011/05/01 - 2011/07/31	PhD training: Learning of techniques for the development of splicing therapeutic approaches, specifically for antisense oligonucleotides / U1 snRNA therapy methodologies. Work developed in the scope of PhD thesis. Other	Universidad Autonoma de Madrid Centro de Biología Molecular Severo Ochoa, Spain
2009 - 2009	Workshop of Scientific Writing for Young Researchers Workshop	Universidade do Porto, Portugal

Association member

	Society Organization name	Role
2019 - Current	Member of the Oligonucleotide Therapeutics Society
2005 - 2006	Board member of NEBAUM (Applied Biology students association of University of Minho)	Board member

Committee member

	Activity description Role	Institution / Organization
2018 - 2023	European COST Action CA17103 - Delivery of Antisense RNA Therapeutics (DARTER). Member (National delegate substitute) of the management committee. Member	European Cooperation in Science and Technology, Belgium
2018 - 2023	Coordinator of Early Career Investigators (ECIs) and Scientific Seminars in the European COST Action CA17103 (DARTER) Coordinator	European Cooperation in Science and Technology, Belgium
2013 - 2017	European COST Action BM1207 - Networking towards clinical application of antisense-mediated exon skipping. Member (National delegate substitute) of the management committee. Member	European Cooperation in Science and Technology, Belgium

Journal scientific committee

	Journal title (ISSN)	Publisher
2016 - 2016	Gene	Elsevier
2012 - 2012	Reactome - a curated knowledgebase of biological pathways (1934-1792)	Reactome

Distinctions

Award

2023	Travel Grant Oligonucleotide Therapeutics Society, United States
2022	Best Oral communication Universidade de Lisboa Faculdade de Medicina Veterinária, Portugal
2022	Virtual Mobility Grant European Cooperation in Science and Technology, Belgium
2021	Best Oral Communication Portuguese Society of Metabolic Disorders (SPDM) , Portugal
2021	Virtual Mobility Grant European Cooperation in Science and Technology, Belgium
2019	Inclusiveness Target Country conference grant European Cooperation in Science and Technology, Belgium
2019	Honorable Mention Award for a research project Fundação Rui Osório de Castro, Portugal
2018	Honorable Mention Award for a research project Fundação Rui Osório de Castro, Portugal
2018	Honorable Mention Award (Oral Communication) Portuguese Society of Metabolic Disorders (SPDM) , Portugal
2018	Travel Grant Care-for Rare Foundation, Germany
2017	Best Poster Award Oligonucleotide Therapeutics Society, United States
2017	Honorable Mention Award (Oral Communication) Sociedade Portuguesa de Genética Humana, Portugal
2016	Best Oral Communication Portuguese Society of Metabolic Disorders (SPDM) , Portugal
2013	Travel Grant Oligonucleotide Therapeutics Society, United States
2013	Portuguese Society of Metabolic Disorders/Genzyme 2013 Research Grant/Award Sanofi Genzyme Portugal, Portugal Portuguese Society of Metabolic Disorders (SPDM) , Portugal