Identification
Personal identification
- Full name
- Marisa Alexandra Rego Da Encarnação
Citation names
- Encarnação, Marisa
Author identifiers
- Ciência ID
- 4819-A750-4620
- ORCID iD
- 0000-0002-3726-2851
Websites
Knowledge fields
- Natural sciences - Biological Sciences - Biochemistry
- Medical and Health Sciences - Basic Medicine - Human Genetics
- Natural sciences - Biological Sciences - Cell Biology
Languages
Language | Speaking | Reading | Writing | Listening | Peer-review |
---|---|---|---|---|---|
English | Upper intermediate (B2) | Upper intermediate (B2) | Intermediate (B1) | Upper intermediate (B2) | Upper intermediate (B2) |
Education
Degree | Classification | |
---|---|---|
2011
Concluded
|
Research Training Group 1459 - Sorting and interactions between proteins of subcellular compartments (Doktor (PhD))
Major in Tráfico Intracelular
Universitätsklinikum Hamburg-Eppendorf, Germany
"Structural requirements of the gamma subunit for assembly and intracellular transport of GlcNAc-1-phosphotransferase" (THESIS/DISSERTATION)
|
Very Good |
2007
Concluded
|
Master in Advanced Biomolecular Methods (Mestrado)
Universidade de Aveiro, Portugal
"Mucolipidosis type II and III: mutational spectrum and genotype-phenotype relationship " (THESIS/DISSERTATION)
|
Approved (maximum classification possible) |
2004
Concluded
|
Biochemistry graduation- specialization Applied Biochemistry (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Characterization of the mtND1 gene in Portuguese patients with Leber Hereditary Optic Neuropathy" (THESIS/DISSERTATION)
|
13 |
Affiliation
Science
Category Host institution |
Employer | |
---|---|---|
2021/03/15 - Current | Auxiliary Researcher (Research) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2018/11/01 - 2018/12/23 | Visiting Researcher (Research) | Weizmann Institute of Science, Israel |
2012/06/25 - 2012/12/02 | Visiting Researcher (Research) | Harvard Medical School, United States |
Teaching in Higher Education
Category Host institution |
Employer | |
---|---|---|
2019/11 - 2019/12 | Visiting Teacher (Polytechnic Teacher) | Cooperativa de Ensino Superior Politécnico e Universitário, Portugal |
Others
Category Host institution |
Employer | |
---|---|---|
2020/04/20 - 2022/06 | Participation in SARS-COV-2 Molecular testing | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2018/01/01 - 2021/02 | Postdoc | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2016/10/02 - 2018/02/15 | Postdoctoral Fellow (integrated in the project NORTE2020 - DESVENDAR) | Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal |
2017 - 2018 | Postdoctoral Fellow | Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal |
2015/10/01 - 2016/07/01 | Postdoctoral Fellow (FCT fellowship with the reference SFRH / BPD / 87085 / 2012) | Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal |
2015 - 2015 | Postdoc | iNOVA4Health, Portugal |
2013/01/01 - 2014/09/30 | Postdoctoral Fellow (FCT fellowship with the reference SFRH / BPD / 87085 / 2012) | Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal |
2012 - 2013 | Postdoctoral Fellow (integrated on the project HMS-Portugal ICT 2010) | Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal |
2012 - 2012 | Postdoctoral Fellow (integrated on the project HMS-Portugal ICT 2010) | Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal |
2008/05/01 - 2011/07/22 | PhD student | Universitätsklinikum Hamburg-Eppendorf, Germany |
2004/11/01 - 2007/12/31 | Senior Technician integrated on the team responsible for the screening and follow-up of metabolic diseases, namely aminoacidopathies, urea cycle disorders, organic aciduries and mitochondrial diseases | Centro de Genética Médica Doutor Jacinto Magalhães, Portugal |
Projects
Grant
Designation | Funders | |
---|---|---|
2016/02/11 - 2018/09/30 | DESVENDAR – DEScobrir, VENcer as Doenças rARas”
NORTE2020/ DESVENDAR/DGH/jn2016
Post-doc Fellow
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
|
Concluded
|
2012/01/01 - 2016 | New Approaches to fight tuberculosis
HMSP-ICT/0024/2010
Post-doc Fellow
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2013/01/01 - 2015/12/31 | DECIPHERING THE MOLECULAR MECHANISMS INVOLVED PLASMA MEMBRANE REPAIR IN MYCOBACTERIUM TUBERCULOSIS-INFECTED MACROPHAGES
SFRH/BPD/87085/2012
Post-doc Fellow
|
Fundação para a Ciência e a Tecnologia
Concluded
|
2008/03 - 2011/07 | Subunit interactions of the Golgi-resident GlcNac-1-phosphotransferase complex
Grant GRK1459
PhD Student Fellow
Universitätsklinikum Hamburg-Eppendorf, Germany
|
Deutsche Forschungsgemeinschaft
Concluded
|
Contract
Designation | Funders | |
---|---|---|
2021/01/01 - 2025/12/31 | Associate Laboratory for Animal and Veterinary Sciences
LA/P/0059/2020
Universidade de Lisboa Centro de Investigação Interdisciplinar em Sanidade Animal, Portugal
Universidade de Lisboa Faculdade de Medicina Veterinária, Portugal Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal Universidade de Trás-os-Montes e Alto Douro Centro de Ciência Animal e Veterinária, Portugal Universidade de Trás-os-Montes e Alto Douro, Portugal Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal |
Fundação para a Ciência e a Tecnologia
Ongoing
|
2023/03/01 - 2024/08/31 | Development of a Genetic Substrate Reduction Therapy for MPS III using Antisense Oligonucleotides as therapeutic agents
2022.04667.PTDC
Researcher
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2023/03/01 - 2024/08/31 | 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
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2023/05 - 2024/05 | Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide
approach for ML II
AL4A-PROJ-LT3.5
Researcher
|
Ongoing
|
2022/01/01 - 2023/12/31 | Neurological disease modeling for Sanfilippo: a key step towards understanding and treating a rare genetic disorder
EXPL/BTM-SAL/0659/2021
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal Universidade do Porto Centro Interdisciplinar de Investigação Marinha e Ambiental, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
2022/01/02 - 2023/06/30 | RNA-Seq based methods to identify novel disease biomarkers in neurodegenerative metabolic diseases
EXPL/BTM-TEC/1477/2021
Principal investigator
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2018/10/20 - 2022/08/31 | LysoMod, Genetic and Small Molecule Modifiers of Lysosomal Function
H2020-MSCA-RISE-2016
Researcher
Instituto de Medicina Molecular João Lobo Antunes, Portugal
|
Horizon 2020
Ongoing
|
2020/04/21 - 2020/07/21 | GLYCOVID-19 Testing existing glycan-based drugs to neutralize SARS-CoV- 2
140_596817822
Technical development
|
Fundação para a Ciência e a Tecnologia
Ongoing
|
2019/01/01 - 2019/12/31 | Center for the Study of Animal Science
UID/Multi/00211/2019
Universidade do Porto Centro de Estudos de Ciencia Animal, Portugal
Universidade do Porto Instituto de Ciências Tecnologias e Agroambiente, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
2019/01/01 - 2019/12/31 | iNOVA4Health - Programme in Translational Medicine (iBET, CEDOC/FCM, IPOLFG and ITQB)
UID/Multi/04462/2019
Instituto de Biologia Experimental e Tecnológica, Portugal
Universidade NOVA de Lisboa NOVA Medical School, Portugal Universidade NOVA de Lisboa, Portugal Universidade Nova de Lisboa Instituto de Tecnologia Química e Biológica António Xavier, Portugal Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Portugal |
Fundação para a Ciência e a Tecnologia
Concluded
|
Outputs
Publications
Conference paper |
|
Conference poster |
|
Journal article |
|
Newsletter article |
|
Preprint |
|
Thesis / Dissertation |
|
Other
Other output |
|
Activities
Oral presentation
Presentation title | Event name Host (Event location) |
|
---|---|---|
2023/10/21 | Tangled: a tale about NPC1 Protein Trafficking | AL4Animals Thematic Meeting – Biotech
University of Porto (Porto, Portugal)
|
2023/03/31 | Lost (and found) in Translation: the Potential of microRNAs | VI CECA Meeting
University of Porto (Porto, Portugal)
|
2022/09/11 | Haplotypic and MicroRNA Profiling in Niemann-Pick type C Portuguese Patients | 24th ESGLD Workshop and graduate course
University of Manchester (Lancaster, United Kingdom)
|
2022/06/28 | Haplotypic Determination in Portuguese and Brazilian Patients: a founder effect in a Rare Genetic Disorder | 3rd International Meeting of the Portuguese Society of Genetics
University of Evora (Evora, Portugal)
|
2019/03 | Transcriptomics profiling of Niemann-Pick type c patients – Activation of the unfold protein response in a specific case | 15th International SPDM (Portuguese Society for Metabolic Disorders) Symposium
(Coimbra, Portugal)
|
2019 | Genomics and transcriptomics approach - diagnosis of a challenging case of Niemann-Pick type C (NP-C) | GenomePT |
2019 | Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and transcriptomic profile of challenging cases | 22nd ESGLD Workshop and Graduate Course
(Spain)
|
2017 | Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases | |
2017 | Neurodegenerative Lysosomal Diseases Approached by Next Generation Sequencing |
Supervision
Thesis Title Role |
Degree Subject (Type) Institution / Organization |
|
---|---|---|
2023/10 - Current | microRNAs in Lysosomal Storage Disorders: cellular targets and possible biomarkers
Supervisor
|
Master in Molecular and Cell Biology (Master)
Universidade de Aveiro, Portugal
|
2022/10 - 2023/09 | Molecular and Functional Studies on Niemann-Pick Type C Disease
Supervisor
|
Mestrado em Biologia Celular e Molecular (Master)
Universidade do Porto Departamento de Química e Bioquímica, Portugal
|
Event organisation
Event name Type of event (Role) |
Institution / Organization | |
---|---|---|
2015/07/02 - 2016/07/01 | Organizing committee of the 1st CEDOC Symposium on Chronic Diseases FCM - NOVA, Lisboa. Topics: Inflammation and Metabolic
Diseases; Stem Cells and Regenerative Medicine; Mental Health and Neurosciences; Rare Diseases. (2016/06/30 - 2016/07/01)
Symposium (Member of the Organising Committee)
|
Universidade Nova de Lisboa Centro de Estudos de Doenças Crónicas, Portugal |
Jury of academic degree
Topic Role |
Candidate name (Type of degree) Institution / Organization |
|
---|---|---|
2023/11/29 | Molecular and Functional Studies on Niemann-Pick Type C Disease
Supervisor
|
Hugo Daniel Sousa David (Master)
Universidade do Porto Departamento de Química e Bioquímica, Portugal
|
2021/02 | Biochemical and Molecular approaches for diagnosis of Inherited Metabolic Diseases
(Thesis) Main arguer
|
Júlia Alexandra Martins Gomes (Master)
Universidade de Aveiro, Portugal
|
2020/07 | Biochemical and Molecular diagnosis of Lysosomal Storage Disorders using Dry Blood Spots
(Thesis) Main arguer
|
Ana Margarida Silva Pinho (Other)
Instituto Politécnico do Porto, Portugal
|
Conference scientific committee
Conference name | Conference host | |
---|---|---|
2010/05 - 2010/05 | 1st International Symposium for PhD students on Protein Trafficking in Health and Disease | University Medical Center Hamburg-Eppendorf |
Course / Discipline taught
Academic session | Degree Subject (Type) | Institution / Organization | |
---|---|---|---|
2019/09 - 2019/11 | Tecnologias Biomoleculares e Biomédicas | Biomedical Sciences (Licenciatura) | Cooperativa de Ensino Superior Politécnico e Universitário, Portugal |
2019/02 - 2019/02 | Academic Lecture with the tittle: Mecanismos das Doenças Lisossomais de Sobrecarga – Caso de uma Doença Rara Neurodegenerativa | Biochemistry for Health (Mestrado) | Instituto Politécnico do Porto Escola Superior de Saúde, Portugal |
2017 - 2017 | Lysosomal Storage Disorders | Biological Sciences Applied to Health | Cooperativa de Ensino Superior Politécnico e Universitário, Portugal |
Mentoring / Tutoring
Topic | Student name | |
---|---|---|
2023/03 - 2023/05 | Lysosomal Storage Disorders: from diagnosis to research | Paula Figueira |
2023/02 - 2023/03 | Techniques and tools for the diagnosis and therapeutic development in Lysosomal Storage Diseases | Celine Erb |
2021/09 - 2022/06 | Study of Niemann-Pick type C patients using Next-Generation Sequencing | Tatiane Grazieli Hammerschmidt |
Distinctions
Award
2019 | ESGLD travel award |