???global.info.a_carregar???
I completed a B.Sc. in Biochemistry (2009) at the University of Porto and an M.Sc. in Cellular and Molecular Biology (2011) at the University of Coimbra. In 2019, I completed my Ph.D. at the University of Porto under the supervision of professors Isabel Alonso and Reto Gassmann, with a thesis entitled “Pathogenic variants in movement disorders: modifiers, interactors and disease models”. My research interests have focused on understanding the molecular mechanisms involved in genetically determined movement disorders. My studies on this topic have allowed me to author and co-author manuscripts in leading journals such as Genetics in Medicine, Brain and ASN Neuro. Using the latest technologies, I identified the underlying genetic basis of disease in a large collection of patients presenting with some form of movement disorders. This was a successful approach (Pereira et al, 2012, GenetMed), however, I quickly realised that there was a lack of both knowledge about the fundamental biology of the proteins these genes encode, and of good reproducible disease models, that ultimately hinder the pursuit of therapies. I dedicated most of my PhD addressing this issue. I generated new, genetically defined, models for movement disorders, both in C. elegans and mammalian cells (Santos et al, 2019, SciRep), and used them to identify new genetic modifiers of disease presentation (Pereira et al, 2016, ASNNeuro), new molecular interactors, and contributed to the first neuropathological study of a PARK7 patient’ brain which implicated, for the first time, the absence of DJ-1 with a-synuclein pathology (Taipa et al, 2016, Brain). Throughout my career, I have been committed to sharing my work with my peers, at national and international meetings, and with the general community, having mentored several students along the way.
Identification

Personal identification

Full name
Maria da Conceição Moutinho Pedroso Pereira

Citation names

  • Pereira, Maria da Conceição
  • Pereira, Conceição

Author identifiers

Ciência ID
3D18-F6C4-EC24
ORCID iD
0000-0003-0164-4169
Researcher Id
J-4960-2013
Scopus Author Id
57190280988

Email addresses

  • Maria.pereira@ibmc.up.pt (Professional)

Telephones

Telephone
  • 226 074 90 Ext.: 6166 (Professional)

Addresses

  • Instituto de Biologia Molecular e Celular. Rua Alfredo Alen, 208, 4200-135, Porto, Porto, Portugal (Professional)

Knowledge fields

  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Natural sciences - Biological Sciences - Molecular Biology
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Basic Medicine - Neurosciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
English Advanced (C1) Advanced (C1) Advanced (C1) Advanced (C1)
French Beginner (A1) Beginner (A1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2013/02/01 - 2019/10/07
Concluded
Doutoramento em Ciencias Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Pathogenic variants in movement disorders: modifiers, interactors and disease models" (THESIS/DISSERTATION)
2011/09/06
Concluded
Mestrado en Biologia Celular e Molecular (Mestrado)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Role of PKC¿ cleavage and autophagy in protein aggregation and clearance: 2011 Spinocerebellar ataxia type 14 as a neurodegeneration model" (THESIS/DISSERTATION)
18
2009
Concluded
Licenciatura em Bioquímica (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"Genetic characterization of Portuguese families with recessive spastic paraplegia" (THESIS/DISSERTATION)
14
Affiliation

Science

Category
Host institution
Employer
2019/10/08 - Current Postdoc (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2011/09/08 - 2013/01/31 Researcher (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2008/02/01 - 2008/07/31 Research Trainee (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Others

Category
Host institution
Employer
2013/02/01 - 2019/10/07 PhD student (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2010/09/01 - 2011/09/07 Master student (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2008/09/01 - 2009/08/31 Undergraduate Student (Research) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Grant

Designation Funders
2016 - 2019 Porto Neurosciences and Neurologic Disease Research Initiative at I3S
Norte-01-0145-FEDER-000008
Researcher
Concluded
2014 - 2017 Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo.
FCT-ANR/BEX-GMG/0008/2013
Researcher
2010 - 2013 Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches.
PTDC/SAU-GMG/100913/2008
Research Fellow
Concluded
2008 - 2011 Mutational spectrum and improvement in laboratory techniques applied to molecular diagnosis of neurological disorders.
PIC/IC/83232/2007
Researcher
Concluded
Outputs

Publications

Conference poster
  1. Diana Santos; Joana Damásio; Sara Morais; Conceição Pereira; Mariana Santos; Jorge Sequeiros; Isabel Alonso. "Novel intronic and synonymous variants: validation of bioinformatic splicing effect prediction increases the molecular diagnosis rate.". Paper presented in ESHG2019, 2019.
  2. Conceição Pereira; Jorge Sequeiros; Reto Gassmann; Isabel Alonso. "MosSCI and CRISPR C. elegans models of LRRK2 related Parkinson’s disease fail to produce the expected phenotype.". Paper presented in ESHG2018, 2018.
  3. Conceição Pereira; Ricardo Taipa; Jorge Sequeiros; Isabel Alonso. "Modeling DJ-1 (L172Q) defects using CRISPR: from the patient brain to the molecular lab and back.". Paper presented in i3S Scientific Retreat, 2016.
  4. Maria Gama; Ana Margarida Lopes; José Leal Loureiro; Conceição Pereira; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Autosomal recessive hereditary spastic paraplegia: SPG11 and SPG15 mutational spectrum in Portuguese patients.". Paper presented in International Conference on Spinocerebellar degenerations, 2013.
  5. Conceição Pereira; Sara Morais; Jorge Sequeiros; Isabel Alonso. "Candidate Cacna1a modifier genes in a C. elegans large scale functional RNAi screen.". Paper presented in ESHG2013, 2013.
  6. Conceição Pereira; Jorge Sequeiros. "Mutant PKCgamma in SCA14 models: accelerated turnover or aggregation, a question of position.". Paper presented in i3S Scientific Retreat, 2012.
  7. Conceição Pereira; Sara Morais; Jorge Sequeiros; Isabel Alonso. "Large scale functional RNAi screen in C. elegans to find movement enhancers in the CACNA1A mutant.". Paper presented in 16th Portuguese Society for Human Genetics meeting, 2012.
  8. Conceição Pereira; Jorge Sequeiros; Isabel Alonso. "Mutant PKCgamma in SCA14 models: accelerated turnover or aggregation, a question of position.". Paper presented in 8th FENS meeting, 2012.
    10.1109/sahcn.2013.6645023
  9. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Alu elements mediate large SPG11 gene rearrangements.". Paper presented in i3S Scientific Retreat, 2011.
  10. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Alu elements mediate large SPG11 gene rearrangements.". Paper presented in 14th Portuguese Society for Human Genetics meeting, 2010.
  11. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Large SPG11 gene rearrangements cause Hereditary Spastic Paraplegia type 11 in Portuguese patients.". Paper presented in 60th Annual Meeting of American Society of Human Genetics, 2010.
  12. Rute Geraldes; Lopes da Silva R; Conceição Pereira; Isabel Alonso; Jorge Pinto-Basto; Isabel Pavão Martins. "A case of progressive spastic paraparesis, cerebellar ataxia, sensorymotor neuropathy and cognitive decline with thin corpus callosum.". Paper presented in 14th Congress of the European Federation of Neurological Societies, 2010.
  13. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Spatacsin (SPG11) mutations in Portuguese patients with hereditary spastic paraplegia.". Paper presented in i3S Scientific Retreat, 2010.
  14. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Spatacsin (SPG11) mutations in Portuguese patients with hereditary spastic paraplegia.". Paper presented in 16th Portuguese Society for Human Genetics meeting, 2009.
  15. Conceição Pereira; José Leal Loureiro; Jorge Pinto-Basto; Paula Coutinho; Jorge Sequeiros; Isabel Alonso. "Spatacsin (SPG11) mutations in Portuguese patients with hereditary spastic paraplegia.". Paper presented in 59th Annual Meeting of the American Society of Human Genetics, 2009.
Journal article
  1. Pereira, Conceição. "Parkin truncating variants result in a loss-of-function phenotype". Scientific Reports (2019): http://dx.doi.org/10.1038/s41598-019-52534-6.
    10.1038/s41598-019-52534-6
  2. Taipa R; Pereira C; Reis I; Alonso I; Bastos-Lima A; Melo-Pires M; Magalhães M. "DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.". (2016): http://europepmc.org/abstract/med/27085187.
    10.1093/brain/aww080
  3. da Conceição Pereira, M.; Morais, S.; Sequeiros, J.; Alonso, I.. "Large-scale functional RNAi Screen in C. elegans identifies TGF-ß and notch signaling pathways as modifiers of CACNAIA". ASN Neuro 8 2 (2016): http://www.scopus.com/inward/record.url?eid=2-s2.0-84961625995&partnerID=MN8TOARS.
    10.1177/1759091416637025
  4. Conceição Pereira, Maria; Loureiro, José Leal; Pinto-Basto, Jorge; Brandão, Eva; Margarida Lopes, Ana; Neves, Georgina; Dias, Pureza; et al. "Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations". Genetics in Medicine 14 1 (2012): 143-151. http://dx.doi.org/10.1038/gim.2011.7.
    10.1038/gim.2011.7
Thesis / Dissertation
  1. Pereira, Conceição. "Pathogenic variants in movement disorders: modifiers, interactors and disease models". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 2019.
  2. Pereira, Conceição. "Role of PKC¿ cleavage and autophagy in protein aggregation and clearance: Spinocerebellar ataxia type 14 as a neurodegeneration model". Master, Universidade de Coimbra Faculdade de Ciencias e Tecnologia, 2011.
  3. Pereira, Conceição. "Genetic characterization of Portuguese families with recessive spastic paraplegia". Degree, Universidade do Porto Faculdade de Ciências, 2009.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2016/11 Modeling DJ-1 (L172Q) defects using CRISPR: from the patient brain to the molecular lab and back. i3S Scientific Retreat
i3S (Póvoa do Varzim, Portugal)
2013/07 Genome-wide RNAi screen in a neurological disease model. Postgraduate Couse: THE NEMATODE C. ELEGANS a model for biomedical research
Life and Health Sciences Research Institute (Braga, Portugal)
2013/06 Large scale functional RNAi screen in C. elegans reveals candidate modifier genes for Cacna1a. International Conference on Spinocerebellar degenerations
(Paris, France)
2011/11 E depois dos estudos de associação na enxaqueca: análise funcional dos polimorfismos identificados. Portuguese Headache Society Autumn Meeting
(Coimbra, Portugal)

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2018/01 - 2018/09 Ultrastructural characterization of DJ-1 KO cell lines
Supervisor
Biomedical Laboratory Sciences (Degree)
Instituto Politécnico do Porto Escola Superior de Saúde, Portugal

Event organisation

Event name
Type of event (Role)
Institution / Organization
2009 - Current community outreach events both visiting schools and receiving students and teachers in the lab for educational sessions (2009)
Other (Co-organisor)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2019/12/20 - 2019/12/20 Invited Session Chair for Neurosciences and Behavior at the 2nd Meeting of the PhD in Biomedical Sciences (2019/12/20 - 2019/12/20)
Meeting (Other)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Event participation

Activity description
Type of event
Event name
Institution / Organization
2019/11/13 - 2019/11/15 Batch analysis and macro development in ImageJ/Fiji: going beyond the basics
Workshop
Batch analysis and macro development in ImageJ/Fiji: going beyond the basics
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/07/10 - 2018/07/12 SMETS2 “2nd Small Meeting on Endocytic Trafficking and Signaling”
Meeting
SMETS2 “2nd Small Meeting on Endocytic Trafficking and Signaling”
Laboratório Associado ICVS 3B's, Portugal
2016/09/28 - 2016/09/30 Image analysis for imaging flow cytometry
Workshop
Image analysis for imaging flow cytometry
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2014/05/15 - 2014/05/17 Berlin C. elegans Meeting
Meeting
Berlin C. elegans Meeting 2014
Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft, Germany
2011/11/12 - 2011/11/16 Annual Meeting of the Society for Neurosciences
Meeting
Neuroscience 2011
2011/10/30 - 2011/11/04 Autophagy in Health and Disease
Workshop
Autophagy in Health and Disease – EMBO conference series
2011/05/23 - 2011/06/01 Optical Microscopy Imaging for Biosciences
Workshop
3rd Course on Optical Microscopy Imaging for Biosciences
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2015 Design and validation of artificial microRNAs for the efficient downregulation of the mouse Alkbh3 and Alkbh5 genes.
(Thesis) Main arguer
Ana Isabel da Rocha Sá (Other)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Association member

Society Organization name Role
2018/01/01 - 2018/12/31 European Society of Human Genetics Member

Journal scientific committee

Journal title (ISSN) Publisher
2018 - Current Journal of Clinical Neuroscience (0967-5868) Elsevier
2017 - Current The Cerebellum (1473-4230) Springer-Verlag

Mentoring / Tutoring

Topic Student name
2016/01 - 2017/03 Genetic modifiers of somatic CAG instability: CRISPR-Cas9 models António Gil Azevedo
2012/09 - 2013/06 Genetic characterization of patients with Familial Hemiplegic Migraine Joana Maria Pinheiro Afonso
2011/09 - 2012/09 Exploring the role of parkin in endoplasmic reticulum stress and ER-associated protein degradation : cellular models for juvenile PD Miguel Ferreira
Distinctions

Award

2012 Bolsa de Doutoramento
Fundação para a Ciência e a Tecnologia, Portugal

Other distinction

2013 Scholarship award to attend the International conference on spinocerebellar degenerations of the SPATAX/ASG/EFACTS networks, Brain and Spine Institute, Paris, France.
SPATAX/ASG/EFACTS networks, Portugal