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Identificação

Identificação pessoal

Nome completo
Rita Alexandra Batista Francisco

Nomes de citação

  • Francisco, Rita

Identificadores de autor

Ciência ID
6114-753E-7789
ORCID iD
0000-0002-4398-3401

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Espanhol; Castelhano Utilizador elementar (A1) Utilizador independente (B1) Utilizador elementar (A1) Utilizador elementar (A1)
Inglês Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Português Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1) Utilizador proficiente (C1)
Formação
Grau Classificação
2017/03/01 - 2021/05
Em curso
 Programa doutoral em Biologia (Doutoramento)
Universidade Nova de Lisboa, Portugal
"Deciphering immunological aspects of Congenital Disorders of Glycosylation (CDG) using a multidisciplinary approach" (TESE/DISSERTAÇÃO)
2018/12 - 2018/12
Concluído
 Systematic reviews and meta-analysis (Outros)
Universidade de Lisboa Faculdade de Medicina, Portugal
2017/05 - 2018/12
Concluído
 EUPATI Expert Training course for Patients and Patient Representatives on the Medicines Research & Development Process. (Outros)
European Patient Academy on Therapeutic Innovation, Bélgica
2018/04 - 2018/04
Concluído
 Science and the media – bringing together scientists, journalists and society (Outros)
Universidade de Lisboa Faculdade de Ciências, Portugal
2017/03 - 2017/06
Concluído
 ExPRESS Expert Patient and Researcher (Outros)
EURORDIS - European Organisation for Rare Diseases, França
2015 - 2015
Concluído
 Basic Pedagocial Training Certificate: Training of Trainers CCP (Outros)
Instituto do Emprego e Formação Profissional, Portugal
2012/10 - 2014/12
Concluído
 Genética Molecular (Mestrado)
Universidade do Minho Centro de Biologia Molecular e Ambiental, Portugal
"Understanding the role of KRAS-regulated autophagy in colorectal cancer: therapeutic implications" (TESE/DISSERTAÇÃO)
 18
2013/07/15 - 2013/07/26
Concluído
 Cancer therapy: from basic research to clinic (Pós-Graduação)
Universidade do Minho, Portugal
2013/06/12 - 2013/06/28
Concluído
 Mammalian and Yeast cells as complementary cell models in programmed cell death (Pós-Graduação)
Universidade do Minho, Portugal
2013/06/05 - 2013/06/14
Concluído
 Nanoparticles and the Immune System (Risks and Therapeutic opportunities (Pós-Graduação)
Universidade do Minho, Portugal
2009/10 - 2012/07
Concluído
 Genética e Biotecnologia (Licenciatura)
Universidade de Trás-os-Montes e Alto Douro, Portugal
 16
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento 		Empregador
2016/05 - 2017/02 Investigador (Investigação) REQUIMTE Unidade de Ciências Biomoleculares Aplicadas, Portugal
REQUIMTE Unidade de Ciências Biomoleculares Aplicadas, Portugal
2015/03 - 2015/09 Investigador (Investigação) Universidade de Lisboa Faculdade de Ciências, Portugal

Outros

Categoria Profissional
Instituição de acolhimento 		Empregador
2017/03/28 - Atual Estudante de doutoramento Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2016/05 - 2017/02 Social communication manager and international patient liason Portuguese Association for CDG, Portugal
Portuguese Association for CDG, Portugal
Projetos

Bolsa

Designação Financiadores
2017/03 - Atual Deciphering immunological aspects of Congenital Disorders of Glycosylation (CDG) using a multidisciplinary approach
SFRH/BD/124326/2016
 Fundação para as Ciências e da Tecnologia
Produções

Publicações

Artigo em revista
  1. Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; dos Reis Ferreira, Vanessa; A. Videira, Paula; Valadão, Gonçalo. "Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?". Genes 10 12 (2019): 978. http://dx.doi.org/10.3390/genes10120978.
    10.3390/genes10120978
  2. Pascoal, Carlota; Francisco, Rita; Ferro, Tiago; dos Reis Ferreira, Vanessa; Jaeken, Jaak; Videira, Paula A.. "CDG and immune response: From bedside to bench and back". Journal of Inherited Metabolic Disease 43 1 (2019): 90-124. http://dx.doi.org/10.1002/jimd.12126.
    10.1002/jimd.12126
  3. Moreira, Tiago; Francisco, Rita; Comsa, Elisabeta; Duban-Deweer, Sophie; Labas, Valérie; Teixeira-Gomes, Ana-Paula; Combes-Soia, Lucie; et al. "Polymer “ruthenium-cyclopentadienyl” conjugates - New emerging anti-cancer drugs". European Journal of Medicinal Chemistry 168 (2019): 373-384. http://dx.doi.org/10.1016/j.ejmech.2019.02.061.
    10.1016/j.ejmech.2019.02.061
  4. Francisco, Rita. "The challenge of CDG diagnosis.". Mol Genet Metab (2019):
    doi: 10.1016/j.ymgme.2018.11.003
  5. Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; et al. "International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up". Journal of Inherited Metabolic Disease 42 1 (2019): 5-28. http://dx.doi.org/10.1002/jimd.12024.
    10.1002/jimd.12024
  6. Francisco, Rita. "Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review.". Orphanet J Rare Dis (2018):
    doi: 10.1186/s13023-018-0953-9.
  7. Francisco, Rita. "An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study.". JIMD Reports (2018):
    doi: 10.1007/8904_2018_121
  8. Francisco, Rita. "Recognizable phenotypes in CDG.". (2018):
    doi: 10.1007/s10545-018-0156-5
  9. Francisco, Rita. "CDG Therapies: From Bench to Bedside". International Journal of Molecular Sciences (2018): http://www.mdpi.com/1422-0067/19/5/1304.
    10.3390/ijms19051304
  10. Francisco, Rita. "The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and their Role in Human Tumorigenesis.". Cells (2018):
    doi: 10.3390/cells7020014.
  11. Francisco, Rita. "Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review.". JIMD (2018):
    doi: 10.1007/s10545-017-0119-2
  12. D. Marques-da-Silva; R. Francisco; D. Webster; V. dos Reis Ferreira; J. Jaeken; T. Pulinilkunnil. "Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature". Journal of Inherited Metabolic Disease (2017): https://doi.org/10.1007%2Fs10545-017-0066-y.
    10.1007/s10545-017-0066-y
  13. António Matos; Fernanda Marques; Rita Francisco; Tiago Moreira; Ana Preto; M. Helena Garcia; Andreia Valente. "Unraveling the mode of action of new promising polymer–ruthenium conjugates". Ultrastructural Pathology 41 1 (2017): 129-130. https://doi.org/10.1080%2F01913123.2016.1272669.
    10.1080/01913123.2016.1272669
  14. Alves, Sara; Castro, Lisandra; Fernandes, Maria Sofia; Francisco, Rita; Castro, Paula; Priault, Muriel; Chaves, Susana Rodrigues; et al. "Colorectal cancer-related mutant KRAS alleles function as positive regulators of autophagy". Oncotarget 6 31 (2015): http://dx.doi.org/10.18632/oncotarget.5021.
    10.18632/oncotarget.5021
Poster em conferência
  1. Francisco, Rita; Dorinda Marques-da-Silva; Sandra Brasil; Carlota Pascoal; Vanessa dos Reis Ferreira; Eva Morava; Jaak Jaeken. "CDG Diagnosis: A simplified guide for different stakeholders". Trabalho apresentado em European conference on rare diseases, 2020.
  2. Rita Francisco; Carlota Pascoal; Sandra Brasil; Dorinda Marques-da-Silva; Paula A Videira; Vanessa dos Reis Ferreira. "Families and professionals united to tackle the therapeutic needs of Congenital Disorders of Glycosylation". Trabalho apresentado em European conference on rare diseases, 2020.
  3. Francisco, Rita; Carlota Pascoal. "Towards therapeutic approaches for Human Glycosylation Disorders through immunological characterization". Trabalho apresentado em Rare Disease Day Symposium and CDG Family Conference., 2020.
  4. Francisco, Rita; Carlota Pascoal; Dorinda Marques-da-Silva; Paula A Videira. "ImmunoCDGQ: Immunology and CDG Questionnaire for Patients and Caregivers". Trabalho apresentado em 1º Congresso Nacional de Doenças Raras, 2019.
  5. Francisco, Rita; Sandra Brasil; Carlota Pascoal; Paula A Videira; Gonçalo Valadão. "Artificial Intelligence in Rare Diseases: Is the future brighter?". Trabalho apresentado em 1º Congresso Nacional de Doenças Raras, 2019.
  6. Francisco, Rita; Dorinda Marques-da-Silva; Luísa Barros; Carolina Cardão. "Adaptive parenting strategies in CDG families". Trabalho apresentado em 1º Congresso Nacional de Doenças Raras, 2019.
  7. Francisco, Rita; Carlota Pascoal; Paula A Videira; Dorinda Marques-da-Silva. "ImmunoCDGQ: Immunology and CDG Questionnaire for Patients and Caregivers". Trabalho apresentado em GluPor 13, 2019.
  8. Francisco, Rita; Carlota Pascoal; Paula A Videira. "12 (and more) topics on Congenital Disorders of Glycosylation: CDG&Allies-PPAIN: an initiative of CDG families in collaboration with healthcare professionals". Trabalho apresentado em 12 Topics in Rheumatology., 2019.
  9. Francisco, Rita. "Towards therapeutic approaches for Human Disorders of Glycosylation through immunological characterization"". Trabalho apresentado em Ciência 2019, 2019.
  10. Francisco, Rita; Dorinda Marques-da-Silva; Carlota Pascoal; Sandra Brasil; Vanessa dos Reis Ferreira; Paula A Videira. "CDG & Allies – Professionals and Patient Association International Network (CDG&Allies-PPAIN): an initiative of CDG families in collaboration with CDG healthcare professionals". Trabalho apresentado em World Orphan Drug Congress (Europe), 2018.
  11. Francisco, Rita; Carlota Pascoal; Vanessa dos Reis Ferreira; Paula A Videira. "Outcomes measures for clinical trials in rare diseases: PMM2-CDG as a model". Trabalho apresentado em International scientific CDG symposium, 2018.
  12. Francisco, Rita; Dorinda Marques-da-Silva; Carlota Pascoal; Sandra Brasil; Vanessa dos Reis Ferreira. "CDG & Allies – Professionals and Patient Association International Network (CDG&Allies-PPAIN): an initiative of CDG families in collaboration with CDG healthcare professionals". Trabalho apresentado em ECRD - European Conference on Rare Diseases and Orphan drugs, 2018.
  13. Francisco, Rita; Sandra Brasil; Carlota Pascoal; Dorinda Marques-da-Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa dos Reis Ferreira. "Therapies for congenital disorders of glycosylation: a systematic review". Trabalho apresentado em Symposium from the Portuguese Society of Metabolic Disease, 2018.
  14. Francisco, Rita; Dorinda Marques-da-Silva; Carlota Pascoal; Sandra Brasil; Paula A Videira; Vanessa dos Reis Ferreira. "CDG & Allies – Professionals and Patient Association International Network (CDG&Allies-PPAIN): an initiative of CDG families in collaboration with CDG healthcare professionals.". Trabalho apresentado em Symposium from the Portuguese Society of Metabolic Disease, 2018.
  15. Francisco, Rita; Dorinda Marques-da-Silva; Vanessa dos Reis Ferreira; Paula A Videira; David Cassiman. "Probing the extent of liver involvement in Congenital Disorders of Glycosylation (CDG) through an electronic patient/caregiver questionnaire". Trabalho apresentado em Congress: International Scientific CDG Symposium, 2017.
  16. Francisco, Rita; Carlota Pascoal; Dorinda Marques-da-Silva; Pierre Morandat; Paula A Videira; Liz Forbat. "Outcomes Measures for clinical trials in rare diseases: PMM2-CDG as a model". Trabalho apresentado em International Scientific CDG Symposium, 2017.
  17. Francisco, Rita; Carlota Pascoal; Dorinda Marques-da-Silva; Eva Morava; Glen A Gole; David Coman; Vanessa dos Reis Ferreira. "“Eye involvement in Congenital Disorders of O-Glycosylation – A systematic literature review”". Trabalho apresentado em International Scientific CDG Symposium, 2017.
  18. Francisco, Rita; Dorinda Marques-da-Silva; Carlota Pascoal; Paula A Videira; Vanessa dos Reis Ferreira. "CDG & Allies – Professionals and Patient Association International Network (CDG&Allies-PPAIN): an initiative of CDG families in collaboration with CDG healthcare professionals". Trabalho apresentado em International Scientific CDG Symposium, 2017.
  19. Francisco, Rita; Dorinda Marques-da-Silva; Vanessa dos Reis Ferreira; Paula A Videira; Jaak Jaeken; David Cassiman. "Congenital Disorders Of Glycosylation And The Liver - Literature Review and Online Questionnaire". Trabalho apresentado em Symposium from the Portuguese Society of Metabolic Disease, 2017.
Tese / Dissertação
  1. Francisco, Rita. "Understanding the role of KRAS-regulated autophagy in colorectal cancer: therapeutic implications". Mestrado, Universidade do Minho, 2014. http://repositorium.sdum.uminho.pt/handle/1822/34705.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2020/01/31 APCDG and the CGMJM: a collaborative relationship of proximity XLVIII Conferências de Genética Doutor Jacinto Magalhães
(Porto, Portugal)
2019/07 Challenges of CDG diagnosis 4th World Conference on CDG
(Lisboa, Portugal)
2019 The Chalenge of CDG Diagnosis IV Congresso Médico-Científico dos Açores – uMED
(Ponta Delgada, Portugal)
2018/11/30 Moving from talking to patients to talking with patients The Voice of the Costumer
(Aveiro, Portugal)
2018/11 Keeping an eye on O- Congenital Disorders of Glycosylation (CDG) SPDMI 2018
(Porto, Portugal)
2018/04/21 Inmunología y CDG CDG families meeting Spain
AESCDG - Asociación Española del Síndrome CDG (Madrid)
2018/02 Researching what matters for the CDG community by a CDG sibling 2018 SBP Rare Disease Day Symposium & CDG Family Conference
(San Diego, Estados Unidos)
2017/10/26 Why research driven by patient groups really matters? APCDG case study Jornadas do Medicamento: Da molécula à Sociedade
(Lisboa, Portugal)
2017/07 A new approach to boost biomedical knowledge across rare diseases The symptom profile of children and adults with CDG: Family experiences Workshop from the Educational Program of Excellence on CDG
(Coimbra, Portugal)
2017/07 Probing the extent of liver involvement in Congenital Disorders of Glycosylation (CDG) through an electronic patient/caregiver questionnaire International Scientific CDG Symposium,
(Leuven, Bélgica)
2017/05/16 Understanding Heart Involvement in CDG How patient centricity shapes the future of healthcare in Portugal: Results from CDG&Allies-PPAIN
(Lisboa, Portugal)
2017/03 Congenital disorders of glycosylation and the liver - literature review and online questionnaire Symposium from the Portuguese Society of Metabolic Disease
(Évora, Portugal)

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação) 		Instituição / Organização
2019/04/15 - Atual Open Day at the Faculty of Sciences and Technology (FCT) 2019. It is a day-long educational event for young students are invited to come to the University to learn more about the courses and type of work developed there. (2019/04/24)
Encontro (Membro da Comissão Organizadora)
 Universidade Nova de Lisboa, Portugal
2017/01 - Atual World CDG Awareness Day Comemorative Event (2017/05/16)
Encontro (Membro da Comissão Organizadora)
2016/11 - Atual Organization of Workshops of the Educacional Program of Excellence on CDG (2017 - 2018)
Oficina (workshop) (Membro da Comissão Organizadora)
2016/01 - Atual World CDG Awareness Comemorative Event (2016/05/16)
Encontro (Membro da Comissão Organizadora)
2018/06 - 2019/06 4th edition of World CDG Conference for Families and Professionals. This is an international educational and community-event that happens biannually. I integrated the organising committee and my functions involved: speaker and topics identification and invitation, logitics and follow-up, participant registration, among others. (2019/07/26 - 2019/07/27)
Conferência (Membro da Comissão Organizadora)
2016/09 - 2017/09 3rd edition of World CDG Conference for Families and Professionals. This is an international educational and community-event that happens biannually. I integrated the organising committee and my functions involved: speaker and topics identification and invitation, logitics and follow-up, participant registration, among others. (2017/07/15 - 2017/07/16)
Conferência (Membro da Comissão Organizadora)

Comissão de avaliação

Descrição da atividade
Tipo de assessoria 		Instituição / Organização Entidade financiadora
2019/06/06 - Atual Integrated the jury of the BSc's research training defense work of the student Erik Caeiro Cardoso
Avaliador
 Universidade Nova de Lisboa, Portugal

Entrevista (jornal / revista)

Descrição da atividade Jornal / Forum
2019/07/18 Written interview about CDG : Doenças congénitas da glicosilação: "Queremos estimular a investigação nestas doenças tão raras" NewsFarma

Entrevista / Programa (rádio / tv)

Programa Tema
2019/12/02 - Atual Interviewee at the TV program "Ajudar Quem Ajuda" at canal S+ Congenital Disorders of Glycosylation (CDG) and their impact on families' lives
2019/10/11 - Atual Interviewee at the tv program "Casos Singulares" at Canal S+. Congenital Disorders of Glycosylation (CDG)

Membro de associação

Nome da associação Tipo de participação
2019/01 - Atual Refood Almada Voluntária
2019 - Atual Board member of the Portuguese Association for CDG (APCDG) Board member and volunteer
2018/03 - Atual Board member of EUPATI Portugal Board member
2010 - 2012 Núcleo de Estudantes de Genética e Biotecnologia - AdnGB Board Member

Membro de comissão

Descrição da atividade
Tipo de participação 		Instituição / Organização
2020/03 - Atual Rare2030 Young Citizen - This is a project led by the european organisation for rare diseases (EURORDIS) which aims to promote the involvement of young citizens in various areas related to rare diseases, such as research and policy-making.
Membro
 EURORDIS - European Organisation for Rare Diseases, França
2016/12 - Atual Member of the patient board and the patient steering committee at the European Reference Network for rare metabolic diseases (MetabERN). Integrate the steering committe of MetabERN which aims to identify priorities and projects to be carried out in a patient-centric manner, in order to improve the care, education and research on rare metabolic diseases across Europe
Membro