Sandra Catarina da Conceição Alves (B618-7244-EEE2)

Curriculum Vitae

Sandra Catarina da Conceição Alves

Sandra Alves has a degree in Biology (1995), a master in Applied Human Genetics (1997) and a PhD in Biology (2002) from the Faculty of Sciences - University of Porto with a focus on population genetics and pharmacogenetics. From 2002 to 2004 she was Pos-Doc at IPATIMUP/University of Porto and Assistant Professor at Jean Piaget Higher School of Health. In 2004 she became Auxiliary Researcher in the Department of Human Genetics in the Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA), Porto and Head of the Lysosomal Storage Diseases Research Group in 2009. Presently her group integrated the FCT Research Unit, Center for the Study of Animal Science (CECA) from ICETA-University of Porto being Sandra Alves also responsible for the thematic line - Inherited metabolic diseases in human and animals: mechanisms and therapies. Since 2013, she is the INSA's representative in the Portuguese Commission for the Treatment of Lysosomal Storage Diseases and since 2019 INSA's representative in the European Joint Programme on Rare Diseases and coordinator of the National Mirror Group of this Programme in Portugal. She is one of the officers of the European Study Group on Lysosomal Diseases and from 2018 to 2023 she was member of the Management Committee and Core Group of the COST action CA17103 (Delivery of Antisense RNA Therapeutics). Since 2020, she is member of the Associated Laboratory Al4AnimalS. Her scientific activity has been developed in the Human Genetics field with a major focus on inherited metabolic diseases. She has been conducting studies in order to expand the knowledge on the mutational spectrum of these diseases in Portugal and also to address the impact of the identified mutations. Lysosomal storage diseases (LSDs), mainly mucolipidoses (ML) and mucopolysaccharidoses (MPS) are her major research focus. Presently, her group aims to develop RNA based therapeutic approaches to address these pathologies as well as to generate disease cell and animal models for its testing. The correction of LSDs causing mutations and the decrease of accumulated substrates are some of examples of aims that drive the development of such approaches. She has trained several students, helping to create several young researchers who developed their MSc/PhD thesis in LSDs. As principal investigator she conducted 9 R&D projects and has the authorship in over 50 peer review scientific publications and over 150 peer reviewed presentations.

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Identification

Personal identification

Full name: Sandra Catarina da Conceição Alves

Citation names

Alves, Sandra

Author identifiers

Ciência ID: B618-7244-EEE2
ORCID iD: 0000-0002-8881-9197

Websites

https://cecaicetaup.wixsite.com/website/inherited-metabolic-diseases-in-ani (Professional)

Knowledge fields

Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language	Speaking	Reading	Writing	Listening	Peer-review
English	Upper intermediate (B2)	Advanced (C1)	Advanced (C1)	Advanced (C1)	Advanced (C1)

Education

	Degree	Classification
2002/06/25 Concluded	Biology (Doutoramento) Major in Molecular Biology Universidade do Porto Faculdade de Ciências, Portugal "Genetic Characterisation of the Drug metabolising enzymes Thiopurine S-methyltransferase, Glutathione S-transferase mu-1 and Glutathione S-transferase theta-1 in the Northern Portuguese Population " (THESIS/DISSERTATION)
1997 Concluded	Human Genetics (Mestrado) Universidade do Porto Faculdade de Ciências, Portugal "Thiopurine methyltransferase: molecular study in North Portugal " (THESIS/DISSERTATION)
1991 - 1995 Concluded	Biology degree (Licenciatura) Universidade do Porto Faculdade de Ciências, Portugal "n/a" (THESIS/DISSERTATION)

Affiliation

Science

	Category Host institution	Employer
2004/06/22 - Current	Auxiliary Researcher (Research)	Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal

Teaching in Higher Education

	Category Host institution	Employer
2006/01/01 - 2009/12/01	Invited Adjunct Teacher (Polytechnic Teacher)	Instituto Politécnico do Porto Escola Superior de Saúde, Portugal

2002/09/01 - 2004/06/18	Adjunct Teacher (Polytechnic Teacher)	Escola Superior de Saúde Jean Piaget Nordeste, Portugal

Others

	Category Host institution	Employer
2021/01 - Current	Coordination of the Portuguese Mirror Group - European Join Programme on Rare Diseases	Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal

2020 - Current	Participation in SARS-CoV-2 molecular genetics tests	Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal

2020 - Current	Member of Executive Committee of Center for the Study of Animal Science (CECA) and LA AL4AnimalS	Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal
	Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal
2010/01/01 - Current	Staff Scientist (Auxiliary Researcher) and Head of the Lysosomal Storage Diseases Research Group-Department of Human Genetics	Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal

2002/07/01 - 2004/06/18	Pos-Doc Student	Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

1998/01/01 - 2002/06/25	PhD Student	Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

1995/10/01 - 1997/12/03	Master Student	Universidade do Porto Faculdade de Ciências, Portugal

Projects

Grant

	Designation	Funders
2017 - Current	RNA-based therapies for Mucopolysaccharidoses SFRH/BD/124372/2016 Supervisor Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Fundação para a Ciência e a Tecnologia, I.P.
2023/01/01 - 2026/12/31	Innovative & personalized RNA-based therapies for rare diseases and development of models for their testing: application to Mucolipidosis II 2022.13676.BD Supervisor Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal	Fundação para a Ciência e a Tecnologia Ongoing
2015 - 2019	Less is more - Substrate Reduction Therapy for Mucopolysaccharidoses through RNAi SFRH/BPD/101965/2014 Supervisor Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016/01 - 2018/12	Application of splicing approaches to exploit alternative therapies for Lysosomal Storage Diseases: in vitro and in vivo studies Provided by PTCRIS: 144941	Fundação para a Ciência e a Tecnologia, I.P. Concluded
2010 - 2015	SPLICING THERAPEUTICS FOR PATIENTS AFFECTED BY LYSOSOMAL STORAGE DISORDERS SFRH/BD/64592/2009 Supervisor Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Fundação para a Ciência e a Tecnologia, I.P. Concluded
2009 - 2013	Molecular, biochemical, and functional studies in genes determining missorting of lysosomal proteins SFRH/BD/48103/2008 Supervisor	Fundação para a Ciência e a Tecnologia Concluded

Contract

	Designation	Funders
2024/09 - Current	European Rare Diseases Research Alliance (ERDERA) 101156595 Researcher	European Commission
2023/03/01 - 2024/09/30	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, I.P. Ongoing
2023/03/01 - 2024/09/30	Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents (ASOs2cureMPSIII) 2022.04667.PTDC Principal investigator Universidade do Porto Instituto de Ciências e Tecnologias Agrárias e Agro-Alimentares, Portugal	Fundação para a Ciência e a Tecnologia, I.P. Ongoing
2019/01/01 - 2024/08/31	European Joint Programme on Rare Diseases (EJP_RD). EJP RD 825575. EU Framework Programme Horizon 2020 EJP RD 825575 Researcher	Horizon 2020 Ongoing
2023 - 2024	Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide approach for Mucolipidosis II NA Co-Principal Investigator (Co-PI)	Universidade de Lisboa Faculdade de Medicina Veterinária Ongoing
2022/01/01 - 2023/12/31	Neurological disease modeling for Mucopolysaccharidosis type III: a key step towards understanding and treating a rare genetic disorders EXPL/BTM-SAL/0659/2021 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia
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
2021/05/01 - 2023/04/30	Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II 2020DGH1834 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Sociedade Portuguesa de Doenças Metabólicas - Portuguese Society of Metabolic Diseases
2020 - 2023	Exploring in vivo U1 snRNA splicing modulation as an alternative therapy for MPS IIIC 2019DGH1642 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	National MPS Society
2018 - 2023	Cost action CA17103 - Delivery of Antisense RNA Therapeutics Cost action CA17103 Researcher	Horizon 2020 Concluded
2020 - 2021	Genetic Substrate Reduction Therapy for Mucopolysaccharidoses Toward a siRNA-containing nanoparticle targeted to brain cells 2019DGH1656/SCF2019I&D Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Sanfilippo Children's Foundation Ongoing
2016/05/01 - 2020/01/31	Cellular models for the study of lysosomal dysfunction and correction mechanisms PTDC/BIM-MEC/4762/2014 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal Universidade do Algarve, Portugal	Fundação para a Ciência e a Tecnologia Concluded
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 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Asociación Nour de Mucolipidosis 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 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade de Trás-os-Montes e Alto Douro, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2016 - 2018	DESVENDAR - DEScobrir, VENcer as Doenças rARas. NORTE-01-0246-FEDER- 000014 NORTE-01-0246-FEDER- 000014 Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Norte 2020 Concluded
2014 - 2017	Less is more - Substrate Reduction Therapy for Mucopolysaccharidoses through RNAi bcp/LIM/DGH/2014 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Fundação Millenium bcp
2013 - 2017	Cost action BM1207 – Networking towards application of antisensemediated exon skipping Cost action BM1207 Researcher	European Commission Seventh Framework Programme for Research and Technological Development
2010/04/01 - 2013/12/31	The sorting and trafficking of lysosomal proteins through M6P independent pathways: molecular, biochemical and functional studies info:eu-repo/grantAgreement/FCT/3599-PPCDT/102889/PT Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Associação para a Investigação e Desenvolvimento da Faculdade de Medicina, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2008/06/01 - 2011/12/31	Genetic and non-genetic factors contributing for phenylketonuria phenotype diversity: a study based on the Portuguese Neonatal Screening Program info:eu-repo/grantAgreement/FCT/5876-PPCDTI/72663/PT Researcher Universidade do Porto Faculdade de Medicina, Portugal Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal Centro de Genética Médica Doutor Jacinto Magalhães, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2009/01/01 - 2011/09/28	Molecular analysis of the Mucolipidosis II and III in Portugal: characterization of the mutational spectrum and relationship with clinical phenotypes info:eu-repo/grantAgreement/FCT/5646-ICCMS/83252/PT Principal investigator Centro de Genética Médica Doutor Jacinto Magalhães, Portugal Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2008/02 - 2009/01	Molecular screening of Mucopolysaccharidosis type II in Portugal: characterization of the mutational spectrum and relationship with clinical phenotypes Project nº 99/2007 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Portuguese Ministry of Health
2008/02 - 2009/01	Molecular analysis of Mucopolysaccharidoses type IIIA and IIIB in Portugal characterization of the mutational spectrum and relationship with clinical phenotype Project nº 100/2007 Principal investigator Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal	Portuguese Ministry of Health
2005/09/01 - 2008/08/31	Neuronal Ceroid Lipofuscinosis: Molecular, biochemical and functional studies info:eu-repo/grantAgreement/FCT/3599-PPCDT/109255/PT Researcher Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Centro de Genética Médica Doutor Jacinto Magalhães, Portugal	Fundação para a Ciência e a Tecnologia Concluded
2002 - 2005	Childhood acute lymphoblastic leukemia treatment and susceptibility: influence from genetic factors of detoxifying enzymes info:eu-repo/grantAgreement/FCT/POCI/45076/PT Researcher Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal	Fundação para a Ciência e a Tecnologia Concluded
1997 - 1999	"Biochemical and molecular genetics of Thiopurine methyltransferase (TPMT, E.C .2.1.1.67)" PRAXIS/PC NA/BIA/0106/96 Researcher Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal	Fundação para a Ciência e a Tecnologia 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. 10.1007/978-1-0716-2010-6_5 Coutinho, M.F.; Matos, L.; Santos, J.I.; Alves, S.. "RNA Therapeutics: How Far Have We Gone?". 133-177. 2019. 10.1007/978-3-030-19966-1_7
Conference abstract	Alves, Sandra. "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. 28th Annual Meeting of Portuguese Society of Human Genetics. Lisbon. November 2023 Oral Com.". 2023. Alves, Sandra. "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. Oral Com.". 2023. Alves, Sandra. "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. Oral Com". 2023. Alves, Sandra. "David H, Ribeiro I, Cardoso MT, Castro Chaves P, Pinhão M, Martins E, Vieira L, Carneiro Silva C, Quelhas D, Platt FM, Ballabio A, Alves S, Encarnação M. Tangled: a tale about NPC1 Protein Trafficking. Al4AnimalS Thematic Meeting, Comparative and Translational Medicine and Biotechnology. Porto, October 2023. Oral Com.". 2023. sandra ales. "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 ML II: isogenic iPSCs and mutation-specific zebrafish. Al4AnimalS Thematic Meeting, Comparative Translational Medicine and Biotechnology. Porto, Oct. 2023. Oral Com". 2023. Alves, Sandra. "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. Oral Com.". 2023. Alves, Sandra. "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. 2th AL4AnimalS Meeting. Vila Real, Portugal. May 2023. Oral com.". 2023. Alves, Sandra. "Hugo David, Isaura Ribeiro, Sofia Carvalho, Maria Francisca Coutinho, Dulce Quelhas, Sandra Alves, Marisa Encarnação. No Place Like the Lysosome: a Study on NPC1 Protein Trafficking. 2th AL4AnimalS Meeting. Vila Real, Portugal. May 2023. Oral com.". 2023. Alves, Sandra. "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 Portuguese Society of Phamacology (SFF) meeting. Coimbra, Portugal. February 2023. Oral com.". 2023. Alves, Sandra. "Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira PA, Prata MJ, Coutinho MF, Alves S. RNA: a small molecule with a huge potential. VI CECA Meeting. Porto, Portugal. March 2023. Oral com.". 2023. Alves, Sandra. "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 CECA Meeting. Porto, Portugal. March 2023. Oral com.". 2023. Alves, Sandra. "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 CECA Meeting. Porto, Portugal. March 2023. Oral com.". 2023. sandra alves. "Ana Joana Duarte, Diogo Ribeiro, Hugo David, Juliana Inês Santos, Liliana Matos, Luciana Moreira, Maria Francisca Coutinho, Mariana Gonçalves, Marisa Encarnacão, Paula Figueira, Olga Amaral, Sofia Carvalho, Sandra Alves. Inherited metabolic diseases in humans and in animals: mechanisms and therapies. VI CECA Meeting. Porto, Portugal. March 2023. Oral com.". 2023. Alves, Sandra. "Hugo David, Isaura Ribeiro, Luís Vieira, Catarina Carneiro Silva, Maria Francisca Coutinho, Juliana Inês Santos, Esmeralda Martins, Anthony H. Futerman, Dulce Quelhas, Sandra Alves, Marisa Encarnação. Lost (and found) in Translation: the Potential of microRNAs. VI CECA Meeting. Porto, Portugal. March 2023. Oral com.". 2023. Alves, Sandra. "Coutinho MF, Carvalho S, Moreira L, Santos JI, Gaspar P, Gonçalves M, Matos L, David H, Encarnação M, Ribeiro D, et al, 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. Figueira da Foz, Portugal. March 2023. Oral com.". 2023. Alves, Sandra. "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 Portuguese Society of Phamacology (SFF) meeting. Porto, Portugal. February, 2022. Oral com.". 2022. Alves, Sandra. "Encarnação M, Hammerschmidt T, Ribeiro I, Polese-Bonatto M, Silva L, ML Saraiva-Pereira, Vargas CR, Quelhas D, Prata MJ, and Alves S. Haplotypic Determination in Portuguese and Brazilian Patients: a founder effect in a Rare Genetic Disorder. III International Meeting of the Portuguese Society of Genetics. Évora, Portugal. June 2022. Oral com.". 2022. sSandra Alves. "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. Évora, Portugal.". 2022. Alves, Sandra. "Marisa Encarnação, Isaura Ribeiro, Maria Francisca Coutinho, Lisbeth Silva, Diogo Ribeiro, Luciana Moreira, Juliana Inês Santos, Ana Marcão, Dulce Quelhas, Sandra Alves. Haplotypic and MicroRNA Profiling in Niemann-Pick type C Portuguese Patients. 24th European Study Group on Lysosomal Diseases Workshop and Graduate Course. Lancaster, UK. September 2022. Oral com.". 2022. Alves, Sandra. "Juliana I. Santos, Mariana Gonçalves, Liliana Matos, Paulo Gaspar, Mª João Pires, Paula A. Oliveira, Mª João Prata, Mª Francisca Coutinho, Sandra Alves. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. Young Researcher Day - National Health Institute Dr. Ricardo Jorge. Lisbon, Portugal. November 2022. Oral com.". 2022. Alves, Sandra. "Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Paulo Gaspar, Mariana Gonçalves, Liliana Matos, Marisa Encarnação, Diogo Ribeiro, Ana Joana Duarte, Maria João Prata, Maria Francisca Coutinho, Sandra Alves. Modelling genetic disorders with an unexpected co-worker: the Tooth Fairy that gifts hope to both children and scientists. CIISA Congress 2022: Innovation in Animal, Veterinary and Bio". 2022. Alves, Sandra. "Liliana Matos, Mariana Gonçalves, Juliana I. Santos, Maria Francisca Coutinho, Maria João Prata, Maryam Omidi, Sandra Pohl, Sandra Alves. A personalized antisense oligonucleotide exon-skipping therapeutic approach for Mucolipidosis II. CIISA Congress 2022: Innovation in Animal, Veterinary and Biomedical Research. Lisbon, Portugal. November 2022. Oral com.". 2022. Alves, Sandra. "Juliana I. Santos, Mariana Gonçalves, Liliana Matos, Paulo Gaspar, Mª João Pires, Paula A. Oliveira, Mª João Prata, Mª Francisca Coutinho, Sandra Alves. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. CIISA Congress 2022: Innovation in Animal, Veterinary and Biomedical Research. Lisbon, Portugal. November 2022. Oral com.". 2022. "Encarnação M, Marcão A, Vieira L, Silva C, Silva L, Coutinho MF, Ribeiro D, Santos JI, Matos L, Ribeiro I, Quelhas D and Alves S. Intracellular trafficking deficiency of cholesterol and genetic signature: lessons from a rare neurodegenerative disorder. V CECA Science Days. 2 -3 October 2021. Porto. Oral com.". 2021. "Francisca Coutinho, Liliana Matos, Juliana Santos, Mariana Gonçalves, Paulo Gaspar, Sandra Alves. RNA as a therapeutic target: Development of innovative approaches using synthetic oligonucleotides. MPS 360 Event. September 2021. Porto, Portugal. Oral com.". 2021. "Liliana Matos, Francisca Coutinho, Juliana Santos, Mariana Gonçalves, Paulo Gaspar, Sandra Alves. Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II. 17th Meeting of the Portuguese Society of Metabolic Diseases (SPDM). September 2021. Oral com.". 2021. "Gonçalves M., Matos L., Santos J.I., Coutinho M.F., Prata M.J., Pires M.J., Oliveira P., Alves S. Mutation-adapted U1snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies (2021) XIII Genetics and Biotechnology Journeys (online). Oral com.". 2021. "Gonçalves M., Matos L., Santos J.I., Coutinho M.F., Prata M.J., Pires M.J., Oliveira P., Alves S. Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II a/ß: in vitro and in vivo studies (2021) Science Days, University of Trás-os-Montes and Alto Douro (online). Oral com.". 2021. "Gonçalves M., Matos L., Santos J.I., Coutinho M.F., Prata M.J., Pires M.J., Oliveira P., Alves S. Development of an antisense oligonucleotides-based therapy for mucolipidosis type II a/ß: in vivo studies (2021) 51st Meeting of the Portuguese Society of Pharmacology, University of Lisbon (online). Oral com.". 2021. "JI Santos; M Gonçalves; L Matos; P Gaspar; MJ Pires; PA Oliveira; MJ Prata; MF Coutinho; S Alves. Targeted RNA-based therapies for Mucopolysaccharidosis (2021). 17th International Symposium of the Portuguese Society for Metabolic Disorders. 8- 10 sepetember (online). Oral com.". 2021. "Maria Francisca Coutinho, Juliana Inês Santos, Sofia Carvalho, Paulo Gaspar, Mariana Gonçalves, Liliana Matos, Marisa Encarnação, Diogo Ribeiro, Ana Joana Duarte, Olga Amaral, Hugo Rocha, Maria João Prata, Sandra Alves. A tiny fairy and a tropical fish: unlikely heroes in the fight against a rare disease (2021). V CECA Science Days. 2-3 October. Porto. Oral com.". 2021. "Coutinho MF, Santos JI, Carvalho S, Gaspar P, Matos L, Encarnação M, Ribeiro D, Duarte AJ, Teles EL, Martins E, Garcia P, Janeiro P, Marques R, Silva, Prata MJ, Alves S. Presentation of the Project "The Tooth Fairy 2020", a method to establish neuronal cell lines from baby teeth of patients with Mucopolysaccharidoses. MPS 360 Event. September 2021. Porto, Portugal. Oral com". 2021. Alves, Sandra. "Ribeiro D, Encarnação M, Silva L, Duarte AJ, Alves S, Amaral O. Preliminary characterization of lysosomal-related genes in two Tay Sachs variant B1 fibroblast cell lines. 25ª Annual Meeting of the Portuguese Society of Human Genetics. November de 2021. Oral com.". 2021. Alves, Sandra. "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. Oral com. Oct 2020. Online". 2020. Alves, Sandra. "Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Chaves P, Ribeiro I, Santos JI, Gaspar P, Quelhas D, Lacerda L, Leão-Teles E, Futerman AH, Vilarinho L, Alves S. Assessing Niemann-Pick type C (NP-C) through a multi-omics approach - genomic and transcriptomic profile of challenging cases. 22nd European Study Group on Lysosomal Diseases Workshop. Oral communication. Oct 2019. Vic, Catalunia, Spain.". 2019. Alves, Sandra. "Coutinho MF, Lacerda L, Gaspar A, Pinto E, Ribeiro I, Laranjeira F, Ribeiro H, Silva E, Ferreira C, Prata MJ, Alves S. SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place? 15th International Symposium of the Portuguese Society of Metabolic Diseases (SPDM). Oral communication. March 2019. Coimbra.". 2019. Alves, Sandra. "Encarnação M, Coutinho MF, Cho SM, Cardoso MT, Chaves P, Gaspar P, Santos JI, Ribeiro I, Quelhas D, Lacerda L, Leão Teles E, Futerman AH, Vilarinho L, Alves S. Transcritptomics profiling of Niemann-Pick type C patients - activation of the unfold protein response in a specific case. 15th International Symposium SPDM. Oral communication. March 2019. Coimbra. Portugal.". 2019. Alves, Sandra. "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 SPDM. Oral communication. March 2018. Porto. Portugal". 2019. Alves, Sandra. "Santos JI, C outinho MF, Gaspar P, Alves S. Genetically Modulated Substrate Reduction Therapy for Sanfilippo Syndrome - Proof of Principle. 14th International Symposium SPDM. Oral Communication. March 2018. Porto. Portugal.". 2019. Alves, Sandra. "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. Oral Communication. March 2019. New York. USA". 2019. Alves, Sandra. "Matos L, Vilela R, C outinho MF, 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 . 14th International Symposium SPDM. Oral Communication. March 2018. Porto, Portugal.". 2018. Alves, Sandra. "Matos L, Vilela R, C outinho MF, Gaspar P, Alves S. Development of an antisense-mediated exon skipping approach as a therapeutic option for the ML II-causing mutation c.3503_35044delTC . 21st Annual Meeting SPGH. Oral Communication. November, 2017. Almada, Portugal.". 2017. Alves, Sandra. "Encarnação M, Coutinho MF, Silva L, Ribeiro D, Nogueira C , Vilarinho L, Alves S. Neurodegenerative Lysosomal diseases Approached by Next Generation Sequencing. 21st Annual Meeting SPGH. Oral Communication. November, 2017. Almada, Portugal.". 2017. Alves, Sandra. "Matos L, Gonçalves V, C anals I, Jordan P, Grinberg D, Pérez B, 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, May 2017.". 2017. Alves, Sandra. "Coutinho MF, Santos JI, Matos L, Alves S. Genetically modulated SRT therapy. 11th Brains4Brain Workshop. Oral Communication. March 2017. Frankfurt, Germany.". 2017. Alves, Sandra. "Coutinho MF, Santos JI, Alves S. Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in Mucopolysaccharidoses. 13th International Symposium SPDM. Oral Communication. March 2017. Évora, Portugal.". 2017. Alves, Sandra. "Sandra Alves. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. 21st Annual Meeting SPGH. November 2017. Almada.". 2017. Alves, Sandra. "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 SPDM (Portuguese Society of Metabolic Diseases) International Symposium. Oral Communication. March 2016. Coimbra, Portugal.". 2016. Alves, Sandra. "Matos L, Alves S. Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5' splicing defects in lysosomal storage disorders. 11th SPDM International Symposium. Oral Communication. March 2015. Porto, Portugal.". 2015. Alves, Sandra. "Coutinho MF, Alves S. The role of the Mannose 6-Phosphate recognition marker in Lysosomal Function and Dysfunction. 9th Brains4Brain Workshop. Oral Communication. February 2015. Frankfurt, Germany.". 2015. Alves, Sandra. "Matos L, Duarte AJ, Ribeiro D, Jordan P, Prata MJ, C haves 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 SPDM International Symposium. Oral Communication. March 2014. Cascais, Portugal.". 2014. Alves, Sandra. "Coutinho MF, Encarnação M, Gomes R, Prata MJ, Lacerda L, Bargal R, Filocammo M, Raas-Rothschild, Tappino B, Laprise C , Sirois-Gagnon D, Costa R, Ribeiro H, Lopes L, Alves S. Molecular characterization of the Portuguese patients with defects in GlcNAc-phosphotransferase: a key enzyme in the M6-P dependent lysosomal trafficking. 13th Annual Meeting SPGH. Oral Communication. Nov 2009. Porto, PT.". 2009. Alves, Sandra. "Coutinho MF, Lacerda L, Prata MJ, Ribeiro H, Alves S. Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and Galactosialidosis. II Encontro de Jovens Investigadores da Universidade do Porto. Oral Communication. 2007. Porto, Portugal.". 2009.
Conference paper	Alves, Sandra. "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. Journal of Integrated OMICS 2018, 8(2): 1-21. 2nd International Caparica Conference in Splicing, Costa da Caparica - Portugal"". 2018. Oliveira, E.; Alves, S.; Quental, S.; Ferreira, F.; Norton, L.; Costa, V.; Amorim, A.; Prata, M.J.. "Outcome in acute lymphoblastic leukemia: Influence of thiopurine methyltransferase genetic polymorphisms". 2006. 10.1016/j.ics.2005.09.147
Journal article	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. http://dx.doi.org/10.3390/ijms25063546. 10.3390/ijms25063546 Carvalho, Sofia; Moreira, Luciana; Santos, Juliana Inês; Gaspar, Paulo; Gonçalves, Mariana; Matos, Liliana; David, Hugo; et al. "Help Comes from Unexpected Places: How a Tiny Fairy and a TropicalFish may help us Model Mucopolysaccharidoses". Endocrine, Metabolic & Immune Disorders - Drug Targets 24 (2023): http://dx.doi.org/10.2174/0118715303277318231024055425. 10.2174/0118715303277318231024055425 Marisa Encarnação; Isaura Ribeiro; Hugo David; Maria Francisca Coutinho; Dulce Quelhas; Sandra Alves. "Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts". Genes (2023): https://doi.org/10.3390/genes14111990. 10.3390/genes14111990 Mariana Gonçalves; Juliana Inês Santos; Maria Francisca Coutinho; Liliana Matos; Sandra Alves. "Development of Engineered-U1 snRNA Therapies: Current Status". International Journal of Molecular Sciences (2023): https://doi.org/10.3390/ijms241914617. 10.3390/ijms241914617 Marisa Encarnação; Hugo David; Maria Francisca Coutinho; Luciana Moreira; Sandra Alves. "MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C". Biomedicines (2023): https://doi.org/10.3390/biomedicines11102615. 10.3390/biomedicines11102615 Nuno Lopes; M Luz Maia; Cátia S. Pereira; Inês Mondragão-Rodrigues; Esmeralda Martins; Rosa Ribeiro; Ana Gaspar; et al. "Leukocyte Imbalances in Mucopolysaccharidoses Patients". Biomedicines (2023): https://www.mdpi.com/2227-9059/11/6/1699. 10.3390/biomedicines11061699 Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Mariana Gonçalves; Hugo David; Liliana Matos; Marisa Encarnação; Sandra Alves; Maria Francisca Coutinho. "Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses". Biomedicines (2023): https://doi.org/10.3390/biomedicines11041234. 10.3390/biomedicines11041234 Hammerschmidt, Tatiane Grazieli; Encarnação, Marisa; Lamberty Faverzani, Jéssica; de Fátima Lopes, Franciele; Poswar de Oliveira, Fabiano; Fischinger Moura de Sousa, Carolina; Ribeiro, Isaura; et al. "Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA". Archives of Biochemistry and Biophysics 735 (2023): 109510. http://dx.doi.org/10.1016/j.abb.2023.109510. 10.1016/j.abb.2023.109510 Juliana Inês Santos; Mariana Gonçalves; Liliana Matos; Luciana Moreira; Sofia Carvalho; Maria João Prata; Maria Francisca Coutinho; Sandra Alves. "Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example". Life 12 5 (2022): 608-608. https://doi.org/10.3390/life12050608. 10.3390/life12050608 Suzan M Hammond; Annemieke Aartsma-Rus; Sandra Alves; Sven E Borgos; Ronald A M Buijsen; Rob W J Collin; Giuseppina Covello; et al. "Delivery of oligonucleotide-based therapeutics: challenges and opportunities". EMBO Molecular Medicine (2021): https://doi.org/10.15252/emmm.202013243. 10.15252/emmm.202013243 Encarnação, Marisa; Coutinho, Maria Francisca; Cho, Soo Min; Cardoso, Maria Teresa; Ribeiro, Isaura; Chaves, Paulo; Santos, Juliana Inês; et al. "NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient". Molecular Genetics & Genomic Medicine 8 11 (2020): http://dx.doi.org/10.1002/mgg3.1451. 10.1002/mgg3.1451 Marisa Encarnação; Maria Francisca Coutinho; Lisbeth Silva; Diogo Ribeiro; Souad Ouesleti; Teresa Campos; Helena Santos; et al. "Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants". International Journal of Molecular Sciences (2020): https://www.mdpi.com/1422-0067/21/17/6355. 10.3390/ijms21176355 Maria Francisca Coutinho; Juliana Inês Santos; Liliana S. Mendonça; Liliana Matos; Maria João Prata; Amália S. Jurado; Maria C. Pedroso de Lima; Sandra Alves. "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): 5732-5732. https://doi.org/10.3390/ijms21165732. 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. 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. 10.3390/diagnostics10020058 Alves, Sandra. "The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations". Human Mutation (2019): http://dx.doi.org/10.1002/humu.23748. 10.1002/humu.23748 Alves, Sandra. "Does the clinical phenotype of mucolipidosis-III¿ differ from its aß counterpart?". Clinical Dysmorphology (2019): http://dx.doi.org/10.1097/mcd.0000000000000249. 10.1097/mcd.0000000000000249 Matos, L.; Duarte, A.J.; Ribeiro, D.; Chaves, J.; Amaral, O.; Alves, S.. "Correction of a splicing mutation affecting an unverricht-lundborg disease patient by antisense therapy". Genes 9 9 (2018): 1.-9. http://www.scopus.com/inward/record.url?eid=2-s2.0-85054829830&partnerID=MN8TOARS. 10.3390/genes9090455 Singh, A.; Prasad, R.; Gupta, A.K.; Sharma, A.; Alves, S.; Coutinho, M.F.; Kapoor, S.; Mishra, O.P.. "I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis". Indian Journal of Pediatrics 84 2 (2017): 144-146. http://www.scopus.com/inward/record.url?eid=2-s2.0-84992362236&partnerID=MN8TOARS. 10.1007/s12098-016-2243-7 Ouesleti, S.; Coutinho, M.F.; Ribeiro, I.; Miled, A.; Mosbahi, D.S.; Alves, S.. "Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations". World Journal of Pediatrics (2017): 1-7. http://www.scopus.com/inward/record.url?eid=2-s2.0-85009730053&partnerID=MN8TOARS. 10.1007/s12519-017-0005-x Coutinho, Maria; Santos, Juliana; Matos, Liliana; Alves, Sandra. "Genetic Substrate Reduction Therapy: A Promising Approach for Lysosomal Storage Disorders". Diseases 4 4 (2016): 33. http://dx.doi.org/10.3390/diseases4040033. 10.3390/diseases4040033 Coutinho, Maria; Santos, Juliana; Alves, Sandra. "Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders". International Journal of Molecular Sciences 17 7 (2016): 1065. http://dx.doi.org/10.3390/ijms17071065. 10.3390/ijms17071065 Coutinho, Maria Francisca; Alves, Sandra. "From rare to common and back again: 60years of lysosomal dysfunction". Molecular Genetics and Metabolism 117 2 (2016): 53-65. http://dx.doi.org/10.1016/j.ymgme.2015.08.008. 10.1016/j.ymgme.2015.08.008 Coutinho, M.F.; Encarnação, M.; Laranjeira, F.; Lacerda, L.; Prata, M.J.; Alves, S.. "Solving a case of allelic dropout in the GNPTAB gene: Implications in the molecular diagnosis of mucolipidosis type III alpha/beta". Journal of Pediatric Endocrinology and Metabolism 29 10 (2016): 1225-1228. http://www.scopus.com/inward/record.url?eid=2-s2.0-84990932706&partnerID=MN8TOARS. 10.1515/jpem-2016-0173 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. 10.1016/j.gene.2014.09.054 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. 10.1016/j.dib.2015.10.011 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. 10.1016/j.bbadis.2015.09.011 Coutinho, M.F.; Lacerda, L.; Pinto, E.; Ribeiro, H.; Macedo-Ribeiro, S.; Castro, L.; Prata, M.J.; Alves, S.. "Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking". Clinical Genetics 88 2 (2014): 190-194. http://dx.doi.org/10.1111/cge.12469. 10.1111/cge.12469 Alves, Sandra. "Molecular and computational analyses of genes involved in mannose 6-phosphate independent trafficking". Clinical Genetics (2014): doi: 10.1111/cge.12469. Aggarwal, S.; Coutinho, M.F.; Dalal, A.B.; Mohamed Nurul Jain, S.; Prata, M.J.; Alves, S.. "Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation". Gene 542 2 (2014): 266-268. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898823924&partnerID=MN8TOARS. 10.1016/j.gene.2014.03.053 Matos, L.; Canals, I.; Dridi, L.; Choi, Y.; Prata, M.J.; Jordan, P.; Desviat, L.R.; et al. "Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations". Orphanet Journal of Rare Diseases (2014): 1-12. http://www.scopus.com/inward/record.url?eid=2-s2.0-84928747816&partnerID=MN8TOARS. 10.1186/s13023-014-0180-y De Pace, R.; Coutinho, M.F.; Koch-Nolte, F.; Haag, F.; Prata, M.J.; Alves, S.; Braulke, T.; Pohl, S.. "Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)". Human Mutation 35 3 (2014): 368-376. http://www.scopus.com/inward/record.url?eid=2-s2.0-84893903694&partnerID=MN8TOARS. 10.1002/humu.22502 Coutinho, M.F.; Bourbon, M.; Prata, M.J.; Alves, S.. "Sortilin and the risk of cardiovascular disease,Sortilina e risco de doença cardiovascular". Revista Portuguesa de Cardiologia 32 10 (2013): 793-799. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888307920&partnerID=MN8TOARS. 10.1016/j.repc.2013.02.006 Coutinho, M.F.; Prata, M.J.; Alves, S.. "A shortcut to the lysosome: The mannose-6-phosphate-independent pathway". Molecular Genetics and Metabolism 107 3 (2012): 257-266. http://www.scopus.com/inward/record.url?eid=2-s2.0-84867898166&partnerID=MN8TOARS. 10.1016/j.ymgme.2012.07.012 Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; de Bonis, P.; et al. "Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients". Clinical Genetics 81 1 (2012): 47-55. http://www.scopus.com/inward/record.url?eid=2-s2.0-83355175502&partnerID=MN8TOARS. 10.1111/j.1399-0004.2011.01638.x Coutinho, M.F.; Lacerda, L.; Macedo-Ribeiro, S.; Baptista, E.; Ribeiro, H.; Prata, M.J.; Alves, S.. "Lysosomal multienzymatic complex-related diseases: A genetic study among Portuguese patients". Clinical Genetics 81 4 (2012): 379-393. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858183072&partnerID=MN8TOARS. 10.1111/j.1399-0004.2011.01625.x Alves, Sandra. "Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient". JIMD Rep. (2012): doi: 10.1007/8904_2011_83 Coutinho, M.F.; Lacerda, L.; Alves, S.. "Glycosaminoglycan storage disorders: A review". Biochemistry Research International (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84855268685&partnerID=MN8TOARS. 10.1155/2012/471325 Coutinho, M.F.; Santos, L.D.S.; Girisha, K.M.; Satyamoorthy, K.; Lacerda, L.; Prata, M.J.; Alves, S.. "Mucolipidosis type II a/ß with a homozygous missense mutation in the GNPTAB gene". American Journal of Medical Genetics, Part A 158 A 5 (2012): 1225-1228. http://www.scopus.com/inward/record.url?eid=2-s2.0-84860010494&partnerID=MN8TOARS. 10.1002/ajmg.a.35295 Coutinho, M.F.; Prata, M.J.; Alves, S.. "Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction". Molecular Genetics and Metabolism 105 4 (2012): 542-550. http://www.scopus.com/inward/record.url?eid=2-s2.0-84858698808&partnerID=MN8TOARS. 10.1016/j.ymgme.2011.12.012 Coutinho, M.; Encarnação, M.; Gomes, R.; da Silva Santos, L.; Martins, S.; Sirois-Gagnon, D.; Bargal, R.; et al. "Origin and spread of a common deletion causing mucolipidosis type II: Insights from patterns of haplotypic diversity". Clinical Genetics 80 3 (2011): 273-280. http://www.scopus.com/inward/record.url?eid=2-s2.0-79961115962&partnerID=MN8TOARS. 10.1111/j.1399-0004.2010.01539.x Encarnação, M.; Lacerda, L.; Costa, R.; Prata, M.J.; Coutinho, M.F.; Ribeiro, H.; Lopes, L.; et al. "Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - Identification of eight novel mutations". Clinical Genetics 76 1 (2009): 76-84. http://www.scopus.com/inward/record.url?eid=2-s2.0-67650875936&partnerID=MN8TOARS. 10.1111/j.1399-0004.2009.01185.x Mangas, M.; Nogueira, C.; Prata, M.J.; Lacerda, L.; Coll, M.J.; Soares, G.; Ribeiro, G.; et al. "Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: Evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula". Clinical Genetics 73 3 (2008): 251-256. http://www.scopus.com/inward/record.url?eid=2-s2.0-38949094187&partnerID=MN8TOARS. 10.1111/j.1399-0004.2007.00951.x Coutinho, M.F. de L.M.; Lacerda, L.; Prata, M.J.; Ribeiro, H.; Lopes, L.; Ferreira, C.; Alves, S.. "Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: Two novel mutations in the HGSNAT gene". Clinical Genetics 74 2 (2008): 194-195. http://www.scopus.com/inward/record.url?eid=2-s2.0-47149104724&partnerID=MN8TOARS. 10.1111/j.1399-0004.2008.01040.x Oliveira, E.; Quental, S.; Alves, S.; Amorim, A.; Prata, M.J.. "Do the distribution patterns of polymorphisms at the thiopurine S-methyltransferase locus in sub-Saharan populations need revision? Hints from Cabinda and Mozambique". European Journal of Clinical Pharmacology 63 7 (2007): 703-706. http://www.scopus.com/inward/record.url?eid=2-s2.0-34250322679&partnerID=MN8TOARS. 10.1007/s00228-007-0310-8 Alves, S.; Mangas, M.; Prata, M.J.; Ribeiro, G.; Lopes, L.; Ribeiro, H.; Pinto-Basto, J.; Lima, M.R.; Lacerda, L.. "Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations". Journal of Inherited Metabolic Disease 29 6 (2006): 743-754. http://www.scopus.com/inward/record.url?eid=2-s2.0-33751055330&partnerID=MN8TOARS. 10.1007/s10545-006-0403-z Rossino, R.; Vincis, C.; Alves, S.; Prata, M.J.; Macis, M.D.; Nucaro, A.L.; Schirru, E.; Congia, M.. "Frequency of the thiopurine S-methyltransferase alleles in the ancient genetic population isolate of Sardinia". Journal of Clinical Pharmacy and Therapeutics 31 3 (2006): 283-287. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745033064&partnerID=MN8TOARS. 10.1111/j.1365-2710.2006.00736.x Oliveira, E.; Alves, S.; Quental, S.; Ferreira, F.; Norton, L.; Costa, V.; Amorim, A.; Prata, M.J.. "The MTHFR C677T and A1298C polymorphisms and susceptibility to childhood acute lymphoblastic leukemia in Portugal". Journal of Pediatric Hematology/Oncology 27 8 (2005): 425-429. http://www.scopus.com/inward/record.url?eid=2-s2.0-24144492112&partnerID=MN8TOARS. 10.1097/01.mph.0000177513.81465.94 Alves, S.; Rocha, J.; Amorim, A.; Prata, M.J.. "Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: Preliminary data from the patterns of haplotypic association with two CA repeats". Annals of Human Genetics 68 4 (2004): 313-323. http://www.scopus.com/inward/record.url?eid=2-s2.0-4444268912&partnerID=MN8TOARS. 10.1046/j.1529-8817.2004.00104.x Alves, S.; Amorim, A.; Ferreira, F.; Norton, L.; Prata, M.J.. "The GSTM1 and GSTT1 genetic polymorphisms and susceptibility to acute lymphoblastic leukemia in children from north Portugal [3]". Leukemia 16 8 (2002): 1565-1567. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036052581&partnerID=MN8TOARS. 10.1038/sj.leu.2402543 Alves, S.; Amorim, A.; Prata, M.J.. "Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: Inferences from population and sequence data". Human Genetics 111 2 (2002): 172-178. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036705566&partnerID=MN8TOARS. 10.1007/s00439-002-0784-5 Alves, S.; Amorim, A.; Ferreira, F.; Prata, M.J.. "Pharmaconetics and genomics: Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity". Clinical Pharmacology and Therapeutics 70 2 (2001): 165-174. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034889535&partnerID=MN8TOARS. 10.1067/mcp.2001.117284 Alves, S.; Prata, M.J.; Ferreira, F.; Amorim, A.. "Screening of thiopurine S-methyltransferase mutations by horizontal conformation-sensitive gel electrophoresis". Human Mutation 15 3 (2000): 246-253. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034050713&partnerID=MN8TOARS. 10.1002/(SICI)1098-1004(200003)15:3<246::AID-HUMU5>3.0.CO;2-# Alves, S.; Ferreira, F.; Prata, M.J.; Amorim, A.. "Characterization of three new VNTR alleles in the promoter region of the TPMT gene.". Human mutation 15 1 (2000): http://www.scopus.com/inward/record.url?eid=2-s2.0-0033631649&partnerID=MN8TOARS. Alves, S.; João Prata, M.; Ferreira, F.; Amorim, A.. "Thiopurine methyltransferase pharmacogenetics: Alternative molecular diagnosis and preliminary data from Northern Portugal". Pharmacogenetics 9 2 (1999): 257-261. http://www.scopus.com/inward/record.url?eid=2-s2.0-0032812967&partnerID=MN8TOARS.
Newsletter article	Alves, Sandra. "Authors: COVID-19 laboratory diagnostic teams at INSA. "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" Boletim Epidemiológico Observações, 2020.", 2020 Alves, Sandra. "Nogueira C, Silva L; Encarnação M; Coutinho MF; Amaral O, Alves S; Vilarinho L. "DESVENDAR "DEScobrir, VENcer as Doenças rARas"". Boletim Epidemiológico Observações, 2019, http://www.insa.min-saude.pt/wp-content/uploads/2019/12/15.pdf.", 2019, http://www.insa.min-saude.pt/wp-content/uploads/2019/12/15.pdf.. Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Matos, Liliana; Ribeiro, Diogo; Nogueira, Célia; Gaspar, Paulo; Vilarinho, Laura; Alves, Sandra. "Desenvolvimento de um ensaio de sequenciação de nova geração para acelerar o diagnóstico molecular das doenças lisossomais de sobrecarga", 2018, http://hdl.handle.net/10400.18/5589. Coutinho, Maria Francisca; Duarte, Ana Joana; Matos, Liliana; Santos, Juliana Inês; Amaral, Olga; Alves, Sandra. "Doenças lisossomais de sobrecarga em Portugal: 10 anos de experiência em estudos moleculares no INSA (2006-2016)", 2016, http://hdl.handle.net/10400.18/3787.
Report	Teles, Elisa Leão; Oliveira, Anabela; Martins, Esmeralda; Duarte, Hélder; Rodrigues, Jorge; Azevedo, Olga; Alves, Sandra; et al. 2020. Comissão Coordenadora do Tratamento das Doenças Lisossomais de Sobrecarga - Relatório de actividades 2018. http://hdl.handle.net/10400.18/7172. Teles, Elisa Leão; Alves, Sandra; Oliveira, Anabela; Pereira, Carla; Martins, Esmeralda; Duarte, Hélder; Rodrigues, Jorge; et al. 2019. Comissão Coordenadora do Tratamento das Doenças Lisossomais de Sobrecarga - outubro 2016 a dezembro 2017. http://hdl.handle.net/10400.18/7177.
Thesis / Dissertation	Alves, Sandra. "Genetic Characterisation of the Drug metabolising enzymes Thiopurine S-methyltransferase, Glutathione S-transferase mu-1 and Glutathione S-transferase theta-1 in the Northern Portuguese Population". PhD, Universidade do Porto Faculdade de Ciências, 2002. Alves, Sandra. "Thiopurine methyltransferase: molecular study in North Portugal". Master, Universidade do Porto Faculdade de Ciências, 1997.

Activities

Oral presentation

	Presentation title	Event name Host (Event location)
2023/10	Sandra Alves and Paulo Gaspar. Personalized Medicine: situation at national level. 4th edition MPS 360 (Mucopolysaccharidosis 360). Porto, Portugal. October 2023.
2023/03	Sandra Alves. Presentation of the Thematic Line "Inherited metabolic diseases in humans and animals: mechanisms and therapies". VI CECA Meeting. Porto, Portugal. March 2023.
2023/02	Sandra Alves. Antisense Oligonucleotides for Lisosomal Storage Diseases. Final meeting of the Cost Action CA17103 (Delivery of antisense RNA Therapies - DARTER). Bilbao, Spain. February 2023.
2022/11	Sandra Alves. Gene variants, the unfolded protein response, and endoplasmic reticulum stress in a storage disease. Global Symposium on Lysosomal Disorders (GSLSD) 2022. Frankfurt, Germany. November 2022.
2022/06	Sandra Alves. Next generation sequencing and lysosomal dysfunction: novel mutations associated with lysosomal storage disorders. IX Symposium Rare Diseases Common Symptoms. Porto, Portugal. June 2022.
2022/05	Sandra Alves. Development of RNA Therapies and their in vitro and in vivo Experimentation Models. 1st Meeting AL4AnimalS. Lisbon, Portugal. May 2022.
2021/10	Francisca Coutinho, Liliana Matos, Juliana Santos, Mariana Gonçalves, Paulo Gaspar, Sandra Alves. Targeting RNA - Development of Antisense Oligonucleotide-Based Therapies for Lysosomal Storage Diseases. 2nd edition MPS 360 (Mucopolysaccharidosis 360). Porto, Portugal. October de 2021.
2021/09	Sandra Alves. European Joint Programme on Rare Diseases. National Health Institute Dr. Ricardo Jorge Seminar. Online. September 2021.
2021/09	Sandra Alves "Skipping the Pathology in Rare Diseases: Antisense exon-skipping therapy for Mucolipidosis type II". 17th International SPDM Symposium. Fátima, Portugal. September 2021.
2021/06	Sandra Alves Oligonucleotide-based therapies for inherited metabolic diseases: some examples of their application in Lysosomal Storage Disorders.	23th European Study Group on Lysosomal Diseases Workshop & Graduate Course European Study Group on Lysosomal Diseases (Online)
2021/02	Sandra Alves. European Joint Programme on Rare Diseases - programme overview and activities. Talk. Rare Disease Day 2021 - Somos muitos; Somos raros; Somos fortes e estamos orgulhosos. Instituto Nacional de Saúde Doutor Ricardo Jorge. February of 2021. Online event.
2021/02	Sandra Alves. Development of RNA therapeutics for Lysosomal Storage Diseases.Talk. BioMeet SESSIONS 2021 on Therapeutic innovation for rare diseases (Inovação Terapêutica nas Doenças Raras). P-BIO. Online event.
2021	Sandra Alves, Francisca Coutinho. Research in Sanfilippo and the Tooth Fairy project. Workshop "Let's talk about Sanfilippo”, 15-16 May 2021 (online). Organization: Sanfilippo Portugal.
2020/11	Sandra Alves. RNA therapeutic approaches: applications to the treatment of Neurological Diseases. Talk. Meeting of the Grupo de Estudos de Envelhecimento Cerebral e Demência (Brain Aging and Dementia Study Group) - Portuguese Society of Neurology. September 2020. Online event.
2019	Alves S. Models to study therapeutic RNA-based molecules for lysosomal storage diseases and to deliver them. Talk. Meeting of the Cost action CA17103 dedicated to antisense oligonucleotides delivery. Munich (Germany). October 2019.
2019	Alves S. The use of antisense oligonucleotides in neurodegenerative diseases. Talk. Meeting of the Portuguese Society of Neurology. Coimbra (Portugal). November 2019.
2019	Sandra Alves. Mucopolysaccharidoses: From the mutation to the Patient. Talk. MPS 360 Event . September 2019. Porto, Portugal.
2019	Sandra Alves. Next generation sequencing and lysosomal dysfunction - novel mutations associated with lysosomal storage disorders. Talk. Workshop on lysosome biology. Lysocil project. CEDOC. September 2019. Lisbon, Portugal.
2018	Sandra Alves. A look over Mucopolysaccharidosis research in Portugal. Talk. First meeting of the Portuguese patients with mucopolysaccharidoses. March 2018. Porto, Portugal.
2018	Sandra Alves. Exon-skipping approaches for rare diseases: application to Neurofibromatosis. Talk. 11th Meeting of the Portuguese Association of Neurofibromatosis (APNF). May 2018, Lisbon, Portugal
2018	Sandra Alves. Lysosomal Storage Diseases: general perspective and new approaches for the molecular diagnosis using Next Generation Sequencing. Rare Disease Day. February 2018. Porto, Portugal
2017	Sandra Alves. Lysosomal storage diseases: an overview. Talk. “Around Research”, Event in the scope of the project PTDC/BIM-MEC/4762/2014 CEMOLY- Cell Models for Lysosomal disorders. October 2017. Porto, Portugal.
2017	Sandra Alves. Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases. Talk. 21st Annual Meeting of the Portuguese Society of Human Genetics (SPGH). November 2017. Lisbon, Portugal.
2015	Alves S. Development of splicing based approaches to exploit alternative therapies for Lysosomal Storage Diseases. Talk. Meeting of the Cost action BM1207 - Networking towards application of antisensemediated exon skipping. March 2015. Porto, Portugal.
2014	Alves S. Lysosomal Storage Diseases: pathophysiology and innovative therapeutic approaches. Talk. III Meeting CECA. ICBAS. September 2014. Porto, Portgal.
2014	Sandra Alves. Lysosomal Storage Diseases: new tools for diagnosis. 2nd Course of Inherited Metabolic Diseases. Instituto Nacional de Saúde Ricardo Jorge. March 2014. Porto, Portugal.

Supervision

	Thesis Title Role	Degree Subject (Type) Institution / Organization
2023/10 - Current	Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents Supervisor	Biomedicina Molecular (Master) Universidade de Aveiro, Portugal
2023/10 - Current	New models for the most frequent Mucolipidosis II-causing mutation using iPSCs and zebrafish: a crucial step towards the development of new therapies Co-supervisor	Biologia Celular e Molecular (Master) Universidade do Porto Faculdade de Ciências, Portugal
2023/01/01 - Current	Innovative & personalized RNA-based therapies for rare diseases and development of models for their testing: application to Mucolipidosis II. Supervisor of Mariana Mendes Gonçalves	PhD program in Chemical and Biological Sciences (PhD) Universidade de Trás-os-Montes e Alto Douro, Portugal
2018 - Current	The key to open the neuronal box of Tay Sachs disease variant B1: celular models Co-supervisor of Diogo Ribeiro	PhD in Biomedical Sciences (PhD) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 - Current	RNA-based therapies for Mucopolysaccharidoses. Supervisor of Juliana Santos	Biology (PhD) Universidade do Porto Faculdade de Ciências, Portugal
2022/10 - 2023/11	Molecular, Structural and Functional Studies on Niemann-Pick Type C. Co-supervisor of Hugo Daniel Sousa David	Master in Cell and Molecular Biology (Master) Universidade do Porto Faculdade de Ciências, Portugal
2023/02 - 2023/10	Doenças Lisossomais de Sobrecarga: do Diagnóstico à Investigação. Programa extraordinário de estágios na administração direta e indireta do estado - EstágiAP XXI Supervisor	Programa extraordinário de estágios na administração direta e indireta do estado - EstágiAP XXI (Other) Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2023/03 - 2023/04	Techniques and tools for the diagnosis and therapeutic development in Lysosomal Storage Diseases. Lab Rotation. Erasmus+ Supervisor	Lab Rotation (Master) (Other) Rheinische Friedrich Wilhelms Universitat Bonn Institut fur Biochemie und Molekularbiologie, Germany
2021/10 - 2023/02	Modeling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Cultures from the Dental Pulp of Mucopolysaccharidoses patients. Supervisor of Sofia Pereira Carvalho	Master in Pharmaceutical Biotechnology (Master) Universidade de Coimbra Faculdade de Farmácia, Portugal
2019 - 2022/03	In vivo validation of RNA Therapeutic Strategies for Lysosomal Storage Diseases. Co-supervisor of Mariana Gonçalves	Master in Clinical Laboratory Biology (Master) Universidade de Trás-os-Montes e Alto Douro, Portugal
2017 - 2017	Development of an antisense-mediated exon skipping therapeutic strategy for Mucolipidosis II Supervisor of Regina Vilela	Master in Cell and Molecular Biology (Master) Universidade do Porto Faculdade de Ciências, Portugal
2010 - 2015	Splicing therapeutics for patients affected by lysosomal storage disorders Supervisor of Liliana Matos	Biology (PhD) Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2013	Molecular, Biochemical and Functional Studies in Genes Determining Missorting of Lysosomal Proteins Supervisor of Maria Francisca Coutinho	Biology (PhD) Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2009	Mucolipidoses type II and III: mutational spectrum and correlation with the clinical phenotype Supervisor of Marisa Encarnação	Master in Advanced Methods in Molecular Biology (Master) Universidade de Aveiro, Portugal
2009 - 2009	Functional analysis of a missense mutation on IDS gene associated to splicing alterations Supervisor of Liliana Matos	Master in Molecular Genetics (Master) Universidade do Minho, Portugal
2008 - 2008	Molecular characterization of Portuguese patients with pathologies related to the lysosomal multienzymatic complex: Sialidosis and Galactosialidosis Supervisor of Maria Francisca Coutinho	Biology (Master) Universidade do Porto Faculdade de Ciências, Portugal
2007 - 2007	Molecular characterization of Mucopolysaccharidoses type IIIA and IIIB in Portugal Supervisor of Mariana Mangas	Master in Cell Biology (Master) Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal

Event organisation

	Event name Type of event (Role)	Institution / Organization
2023/03 - Current	Member of the Organizing Committee of the VI CECA Meeting (Center for the Study of Animal Science) (2023/03)
2023/02 - Current	Member of the Organizing Committee of the Rare Disease Day 2023. Online. (2023/02)
2022/10 - Current	Member of the Organizing Committee of the Training School "Introduction to Nucleic Acid Therapy" Cost Action CA17103 (DARTER). Porto, Portugal. (https://antisenserna.eu/introduction-to-nucleic-acid-therapy/) (2022/10)
2022/09 - Current	Member of the Organizing Committee of the General Assembly of the European Joint Programme on Rare Diseases. Porto, Portugal. (https://www.ejprarediseases.org/ejp-rd-general-assembly-2022-held-in-porto/?utm_source=rss&utm_medium=rss&utm_campaign=ejp-rd-general-assembly-2022-held-in-porto) (2022/09)
2022/02 - Current	Member of the Organizing Committee of the Rare Disease Day 2022. Online. (2022/02)
2021/12 - Current	Member of the Organizing Committee of the Webinar "Discover the European Joint Program on Rare Diseases: Opportunities and Challenges". National Mirror Group do European Joint Programme on Rare Diseases. Online. December 2021 (https://aicib.pt/2022/03/11/newsletter-do-national-mirror-group-portugues-nmg-p-do-programa-europeu-conjunto-para-as-doencas-raras/) (2021/12)
2021/10 - Current	Member of the Organizing Committee of the V CECA Meeting (Center for the Study of Animal Science) (2021/10)
2021/07 - Current	Member of the Organizing Committee of the 1st Symposium on Oligonucleotide Technologies and Therapeutics@Portugal – OTP2020” (https://www.i3s.up.pt/event.php?v=127. Online. July 2021. (2021/07) Symposium
2021 - 2021	Rare Disease Day 2021. Somos muitos; Somos raros; Somos fortes e estamos orgulhosos. Online meeting. (2021/02/28)	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2020 - 2020	Member of the Organizing Committee of the Training School - The guide to antisense therapy development, integrated into the European COST Action CA17103 (DARTER). February, 2020. Porto, Portugal. (2020 - 2020)	Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2019 - 2019	Rare Disease Day. 2019. Porto, Portugal. (2019 - 2019)	Instituto Nacional de Saúde Doutor Ricardo Jorge IP, Portugal
2017 - 2017	Meeting of the COST action BM1207 "Networking towards clinical application of antisense-mediated exon skipping". March, 2017. Porto, Portugal. (2017) Meeting (Co-organisor)

Jury of academic degree

	Topic Role	Candidate name (Type of degree) Institution / Organization
2020/12	Development, validation and implementation of an NGS gene panel approach for the diagnosis of primary immunodeficiencies. Master in Cell and Molecular Biology. Faculty of Sciences. University of Porto. December 2020. (Thesis) Main arguer	Raquel Alexandra Fonseca da Silva (Master) Universidade do Porto Faculdade de Ciências, Portugal
2020/09/23	Role of Repeat Instability in the Neurodegenerative Disease Spinocerebellar Ataxia Type 37. Master in Biochemistry for Health. ITQB - University NOVA of Lisbon. September 2020. (Thesis) Main arguer	Rita Isabel dos Santos Ratola (Master) Universidade Nova de Lisboa Instituto de Tecnologia Química e Biológica, Portugal
2016	Influence of variants in JOSD1, JOSD2 and ATXN3L on Machado-Joseph disease age-at-onset. Master in Bioengineering. Institute of Biomedical Sciences Abel Salazar (ICBAS)/Faculty of Engineering (FEUP). University of Porto. 2016. (Thesis) Main arguer	Filipe Costa (Master) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal Universidade do Porto Faculdade de Engenharia, Portugal
2013	"New targets and therapeutic approaches in inherited metabolic disorders”. PhD in Pharmacy. Faculty of Pharmacy. University of Lisbon. 2013 (Thesis) Arguer	Sandra Dolores Arduim Brasil. (PhD) Universidade de Lisboa Faculdade de Farmácia, Portugal
2013	A study on Pharmacogenetic polymorphisms in the Portuguese Gypsies”. Master in Forensic Genetics. Faculty of Sciences. University of Porto. 2013 (Thesis) Main arguer	Joana Maria Santiago (Master) Universidade do Porto Faculdade de Ciências, Portugal
2011	Identification of mutations in the GNPTAB gene in Brazilian Patients with Mucolipidosis type II and III. Faculty of Medicine. Federal University of Rio Grande do Sul. Master in Medical Sciences. 2011.	Gabriela Kampf Cury. (Master) Universidade Federal do Rio Grande do Sul, Brazil

Association member

	Society Organization name	Role
2020 - Current	Member of the Scientific Advisory Board of the Patient Organization RD-Portugal (União das Associações das Doenças Raras de Portugal) https://raras.pt/conselho_cientifico/#S
2019 - Current	Member of the Inherited Metabolic Diseases Section of the Portuguese Society of Paediatrics (SDHM.SPP)
2017 - Current	Member of the Board of the European Study Group on Lysosomal Storage Diseases.
2016 - Current	Member of the Scientific Advisory Board of the APL - Portuguese Association of Lysosomal Diseases https://aplisosoma.org/comissao-cientifica-apl/
2012 - Current	Member of the scientific advisory board of the patient organization Jonah's Just Begun-Foundation to Cure Sanfilippo
2012 - Current	Member of the scientific advisory board of the patient associations Sanfilippo Portugal.

Committee member

	Activity description Role	Institution / Organization
2022 - Current	Member of the Executive Committee of the Associate Laboratory for Animal and Veterinary Sciences (AL4AnimalS) - LA/P/0059/2020. Member
2020 - Current	Member of the Executive Committee of the FCT Research Unit, Centro de Estudos em Ciência Animal (CECA). Member
2019/01/01 - Current	Representative of the National Institute of Health Dr. Ricardo Jorge (INSA) and of the Ministry of Health in the European Joint Programme on Rare Diseases (EJP_RD). EJP RD 825575. EU Framework Programme Horizon 2020 (2019-2022). Member
2017 - Current	Member of the Coordinating Committee of the Scientific Council. National Institute of Health Dr. Ricardo Jorge (INSA). Since 2017. Member
2013/03/22 - Current	Member of the National Lysosomal Storage Diseases Treatment Commission (Comissão Coordenadora do Tratamento das Doenças Lisossomais de Sobrecarga (CCTDLS) Member	Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
2018 - 2023	Portuguese delegate in the Management Committee and Core Group Member of the Cost action CA17103 Delivery of Antisense RNA Therapeutics. EU Framework Programme Horizon 2020 (2018-2022).
2014 - 2017	Portuguese delegate in the Management Committee of the Cost action BM1207 – “Networking towards application of antisense mediated exon skipping”. EU RTD Framework Programme - 7º Framework Programme (2014-2017). Member

Conference scientific committee

	Conference name	Conference host
2023/10 - Current	AL4ANIMALS biotech (https://al4animals-biotech.squarespace.com/organization)	AL4Animals
2020 - Current	1st Symposium on Oligonucleotide Technologies and Therapeutics@Portugal	I3S

Course / Discipline taught

	Academic session	Degree Subject (Type)	Institution / Organization
2021 - Current	Antisense oligonucleotides, agomirs, antagomirs, siRNAs and aptamers: chemical structure and molecular mechanisms of gene expression modulation. Master in Pharmaceutical Biotechnology. Faculty of Pharmacy, University of Coimbra.	Biotecnologia Farmacêutica (Mestrado integrado)	Universidade de Coimbra Faculdade de Farmácia, Portugal
2020/11 - Current	Lysosomal Storage Diseases: General Perspective and Diagnosis. Seminar. Master in Cell and Molecular Biology. Faculty of Sciences. University of Porto. November 2020, 2021.	Master in Cell and Molecular Biology (Mestrado)	Universidade do Porto Faculdade de Ciências, Portugal
2020/03 - 2020/03	RNA Therapies: use of antisense oligonucleotides for the Treatment of LSDs. Seminar. Master in Biochemistry for Health. School of Health (ESS) - Polytechnic Institute of Porto (P. PORTO). March 2020.	Master in Biochemistry for Health (Mestrado)	Instituto Politécnico do Porto Escola Superior de Saúde, Portugal

Evaluation committee

	Activity description Role	Institution / Organization	Funding entity
2021/02 - Current	Coordinator of the 2021 Monitoring Panel, for the evaluation of the final scientific records associated with the funding allocated to R&D units and Associated Laboratories (Life and Health Sciences domain) Evaluator		Fundação para a Ciência e a Tecnologia, I.P.
2020/01 - Current	Coordinator of the 2019/2020 Monitoring Panel, for the evaluation of the final scientific records associated with the funding allocated to R&D units and Associated Laboratories (Life and Health Sciences domain) Evaluator	Fundação para a Ciência e a Tecnologia, I.P., Portugal	Fundação para a Ciência e a Tecnologia, I.P.

Journal scientific committee

	Journal title (ISSN)	Publisher
2023 - Current	International Journal of Molecular Sciences. Special Issue on “The Lysosome in Human Health and Disease” Guest Editor (1422-0067)	MDPI

Other jury / evaluation

	Activity description	Institution / Organization
2023 - Current	Vaincre Les Maladies Lysosomales (VML). Evaluation of a Research Proposal in the Call 2023
2023 - Current	Fondation Maladies Rares. Evaluation of a Research Proposal in the Call 2023
2022 - Current	AFM theleton (French Muscular Dystrophy Association). Evaluation of a Research Proposal in the Call Trampoline Grants Application/Competition 2021 - 2022.
2022 - Current	Fondation Maladies Rares. Evaluation of a Research Proposal in the Call 2022:
2020 - Current	Sanfilippo Childrens Foundation (Australia) - Evaluation of a Research Proposal in the 2020 Call
2018 - 2023	Short Training Scientific Missions Coordinator. Cost action CA17103 Delivery of Antisense RNA Therapeutics. EU Framework Programme Horizon 2020 (2018-2022). Responsible for evaluating the STSMs applications.

Distinctions

Award

2020	2020 SPDM Award (Portuguese Society of Metabolic Diseases)

Other distinction

2023	Best Poster. Gonçalves M, Matos L, Santos JI, Coutinho MF, Prata MJ, Pires MJ, Oliveira PA, Alves S. An Antisense Oligonucletide based therapy for a rare disease: in vitro and in vivo studies. Young Researcher Day - INSA. Lisbon, Portugal.
2023	Best Oral Communication. David H, Ribeiro I, Cardoso MT, Castro Chaves P, Pinhão M, Martins E, Vieira L, Carneiro Silva C, Quelhas D, Platt FM, Ballabio A, Alves S, Encarnação M. Tangled: a tale about NPC1 Protein Trafficking. AL4Animals Thematic Meeting.
2022	Best Oral Communication. Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira PA, Prata MJ, Coutinho MF, Alves S. RNA as a promising molecule to treat a rare neurodegenerative lysosomal storage disorder. CIISA Congress 2022. Lisbon, Portugal.
2021	Best Oral Communication. Santos JI, Gonçalves M, Matos L, Gaspar P, Pires MJ, Oliveira PA, Prata MJ, Coutinho MF, Alves S. Targeted RNA-based therapies for Mucopolysaccharidosis. 17th SPDM International Symposium. Fátima, Portugal.
2018	Honourable Mention (oral communication). Matos L, Vilela R, Coutinho MF, 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.
2018	Honourable Mention. Project name: Desenvolvimento de uma abordagem terapêutica molecular para a Neurofibromatose tipo 1 através de exon-skipping.
2017	Honourable Mention (oral communication). Matos L, Vilela R, Coutinho MF, 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.
2016	Best Oral Communication. 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
2013	2013 SPDM/Genzyme Research Grant/Award. Project name: “Development of a U1snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders”.
2007	Best Poster. Oliveira E, Gomes V, Quental S, Ferreira F, Alves S, Amorim A, Prata MJ. Pharmacogenetic role of TPMT, ITPA and folate pathway in the treatment of pedriatric acute lymphoblastic leukemia”
2005	Best Poster. Oliveira E, Alves S, Quental S, Ferreira F, Norton L, Costa V, Amorim A, Prata MJ. Implicações na terapia da leucemia linfoblástica aguda infantil do polimorfismo genético da tiopurina S-Metiltransferase.
2003	Young scientists award (selected poster). Alves S, Amorim A, Rocha J, Prata MJ. Tracing the origin of the most common thiopurine methyltransferase (TPMT) variants: evidence from the patterns of haplotypic association with two CA repeats. European Science Foundation, France
1998	Honourable mention. Alves S, Prata MJ, Ferreira F, Amorim A. Polimorfismo Genético da Tiopurina S-Metiltransferase – Caracterização Molecular no Norte de Portugal.