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MD, Fac. Medicina, UP (1975); PhD (Genetics), ICBAS, UP (1990). Fellow in Medical Genetics (Fulbrighter, 1982-85), Johns Hopkins Hosp., Baltimore, MD, USA. Specialist, Internal Medicine; and Medical Genetics (1987). CURRENTLY: Emeritus Professor, UP (2021); Invited Full Professor and CC MSc Genetic Counselling, ICBAS, UP (2020- ); Board Directors, Researcher, CGPP (Centre for Predictive and Preventive Genetics, 1999- ), IBMC, i3S, UP; Colab. UMIB, ICBAS, UP (2024- ). FORMERLY: Full Professor of Medical Genetics (2004-2020). Director, MSc Genetic Counselling (EBMG accredited), ICBAS, UP. Group leader, UnIGENe (Unit for Genetics and Epidemiological Research on Neurological Diseases) (1992-2023); Director, CGPP (Centre for Predictive and Preventive Genetics, 1999-2022), IBMC, UP. Member (2008-14), President (2011-14), Ethics Commission, UP. Member, Natl. Bioethics Council (CNECV, 2004-15) and CEIC (2014-15). Consultant (ethics), Dir.-Gen. Health (DGS). Founder, first President (1999-2009), College of Medical Genetics, Port. Med. Association. Founder, first Board, Port. Human Genetics Society (1996-99). President, Natl. Human Genetics Commission (DGS, 2009-14). National Coordinator, ORPHANET-PT (2008-15). Secretary-general (interim president), Ataxia Research Group, World Fed. Neurology (1993-97). Board member, Eur. Soc. Human Genetics (ESHG) (2008-13); member, Public and Professional Policy Committee (2002-13) and Education Committee (2008-13) of ESHG, jury for DNA Day (2008-13). Exec. Board, Eur. Board of Medical Genetics (EBMG, 2012-13). Organizer EQA scheme on spinocerebellar ataxias, EMQN (2004-12). Member, working groups at OECD (2001-2010): on Human Research Biobanks and Databases; Pharmacogenetics; steering group, Quality Assurance and Proficiency Testing Schemes for Molecular Genetic Testing in OECD countries. Expert group on genetic testing, EC; alternate member, EUCERD, EC (2010-14). Working group on Direct-to-Consumer Genetic Testing, EASAC/FEAM (Eur. Academies Sci. Advis. Council/ Feder. Eur. Academies of Medicine, 2011-12). Steering group and unit 3 leader, EuroGentest – Harmonizing Genetic Testing in Europe (NoE, FP6/7, 2004-13). Research networks: Euro-HD/EHDN (2004- ), SPATAX (2004- ), HD-MAPS (2008- ), RIBERMOV (2010-13), SCA Global (2018- ). Sci. comm. of lay associations: International Joseph Diseases Found., USA (1981-93), EUROATAXIA (2002-06), MJD Found. Australia (2009- ); RD-Portugal (2022- ). Honorary member, sci. comm. or collaborator: Portuguese associations for familial amyloid neuropathy (2001- ), hereditary ataxias (2008- ) and Huntington disease (2001- ). Scholarships: INVOTAN and Fulbright TO (1982-85). Main prizes: Prof. Doutor Fonseca e Castro (medical genetics), IGM (1986); Jacinto de Magalhães (medical genetics), IGM (1989); Ricardo Jorge de Saúde Pública (public health), INSA (1989); Estímulo à Excelência, FCT (2004). Review panels: EC DG Research FP6 and FP7 (ethical screening); INSERM, France (neurodegenerative dis.); Agence Nac. Recherche, France (projets AVENIR and COHORT); IRDiRC, Inst. Carlos III, Spain; Agência Inovação, Portugal (genetics); Consultant, Joint Program Neurodegenative Diseases, EU; 22nd TV3 Marató, Catha Research (Agency for Health Quality and Assessment, Research in Health Services), Catalonia; MJD Found. Australia; UNU-BIOLAC (United Nations Univ. Prog. Biotechnology in Latin-America and Caribbean). Supervised/co-supervised 35 PhD students theses successfully completed (plus 2 ongoing); 11 post-docs. Edit. boards: Clinical Genetics (1999- ), Journal of Community Genetics (2010- ) and Journal of Xiangya Medicine (2017- ). Author/co-author of over 300 full scientific papers (h-index:49; 8,583 citations), incl. over 250 original articles in refereed international journals, 17 book chapters; 2 multi-author books edited; and a special issue of J Commun Genet (Genetics and Ethics in Latin-America). [ORCID: 0000-0002-9846-103] [SCOPUS ID 7005499969]
Read full resume ↓
Identification

Personal identification

Full name
Jorge Sequeiros

Citation names

  • Sequeiros, Jorge

Author identifiers

Ciência ID
0E17-D288-38BC
ORCID iD
0000-0002-9846-1037
Scopus Author Id
7005499969

Telephones

Telephone
  • 226074942 (Professional)

Addresses

  • i3S - Instituto de Investigação e Inovação em Saúde, Univ. Porto R. Júlio Amaral de Carvalho 45, 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Basic Medicine - Neurosciences
  • Medical and Health Sciences - Health Sciences - Health Care Sciences and Services
Education
Degree Classification
2003
Concluded
 - (Título de Agregado)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Unanimously
1990/01
Concluded
 PhD (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Genetic Analysis of the Causes for Phenotypic Variation in Machado-Joseph Disease" (THESIS/DISSERTATION)
 Distinção e louvor (unanimous)
1987
Concluded
 Internal Medicine (Título de especialista)
Centro Hospitalar Universitário do Porto EPE, Portugal
1987
Concluded
 Medical Genetics (Título de especialista)
Ordem dos Médicos, Portugal
1982/08 - 1985/07
Concluded
 Postgraduate Fellow (Postgraduate Certificate)
Major in Medical Genetics
Johns Hopkins Medicine, United States
1982
Concluded
 Medicine (Licence)
Educational Commission for Foreign Medical Graduates, United States
1975
Concluded
 MD (Licenciatura)
Universidade do Porto Faculdade de Medicina, Portugal
 14 valores
Affiliation

Science

Category
Host institution 		Employer
2024 - Current Invited Principal Investigator (Research) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2024 - Current Principal Investigator (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
1971 - 1975 Research Trainee (Research) Universidade do Porto Faculdade de Medicina, Portugal

Teaching in Higher Education

Category
Host institution 		Employer
2020/02/01 - Current Invited Full Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 - 2020 Full Professor (University Teacher) Universidade do Porto, Portugal
1996 - 2004 Associate Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1990 - 1996 Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1985 - 1990 Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1979 - 1982 Invited Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1973 - 1975 Tutor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal

Other Careers

Category
Host institution 		Employer
1985 - 1987 Interno (Médica) Centro Hospitalar Universitário do Porto EPE, Portugal
1975 - 1982 Interno (Médica) Centro Hospitalar Universitário do Porto EPE, Portugal

Others

Category
Host institution 		Employer
2021/03/22 - Current Emeritus Professor Universidade do Porto, Portugal
Universidade do Porto, Portugal
1992 - 2023 Research Group Leader (non-career) of UnIGENe, IBMC, i3S Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
1999 - 2022 Director (non-career) of CGPP, IBMC, i3S Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
1982/08 - 1985/07 Fellow (Medical Genetics) Johns Hopkins Medicine, United States
Projects

Contract

Designation Funders
2019 - 2022 Analysis and correlation between epigenetics and brain activity to assess the risk of chronic and episodic migraine in women
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 European Commission
Ongoing
2018 - 2021 Clinical and Genetic study of primary headaches and the most relevant associated comorbidities
PTDC/MEC-NEU/29486/2017
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2017 - 2020 GenomePT – Portuguese Roadmap of Research Infrastructures
FCT POCI-01-0145-FEDER-022184
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2017 - 2019 Neurosciences & Neurologic Disease Research Initiative
NORTE-01-0145-FEDER-000008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2016 - 2019 Exome sequencing of discordant and concordant sib-pairs with spinocerebellar ataxia type 3 (SCA3/MJD): a tool to identify new modifiers and study altered molecular pathways
PTDC/DTP-PIC/2638/2014
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Fundação Gaspar Frutuoso, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2015 - 2018 EXOS3 (Whole-exome sequencing of discordant and concordant affected sib pairs in SCA3: a tool to identify novel modifier genes and highlight disrupted molecular pathways)
PTDC/DTPPIC/ 2638/2014
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2014 - 2017 SPATAX-QUEST: 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
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2012 - 2016 UnIGENe, IBMC - Project LA
FCT Pest C/SAU/LA0002/2012 /2013 /2014 /2015 /2016
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2012 - 2016 UnIGENe, IBMC - Project LA
FCT Pest C/SAU/LA0002/2012 /2013 /2014 /2015 /2016
 Fundação para a Ciência e a Tecnologia
2013 - 2015 Identifying Molecular Endpoints for Machado-Joseph disease (MJD/SCA3): evaluation of transcriptional candidate biomarkers in peripheral blood.
PTDC/DTP-PIC/0370/2012
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade dos Açores, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2011 - 2014 ORPHANET Europe - Development of the European portal of rare diseases and orphan drugs
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 European Commission
Concluded
2013 - 2013 Neurodegenerative diseases
CCDRN, NORTE-07-0124-FEDER-000001
CCDRN, NORTE-07-0124-FEDER-000001
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Comissao de Coordenacao e Desenvolvimento Regional do Norte
Concluded
2012 - 2013 InfoRARAS-PT - Obtenção e divulgação de informação sobre as doenças raras em Portugal e em português -contributo da Ophanet-PT para o PNDR
na
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Ministério da Saúde
2011 - 2013 Orphanet Portal for Rare Diseases
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 European Commission
Concluded
2011 - 2013 EuroGentest2: Genetic Testing in Europe
na
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 European Commission
Concluded
2010 - 2013 Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches
PTDC/SAU-GMG/100913/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2010 - 2013 Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
PTDC/SAU-GMG/100240/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010 - 2013 RIBERMOV - Ibero-American Network for Movement Disorders: Ataxias and Parkinson
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Ciencia y Tecnología para el Desarrollo
Concluded
2010 - 2013 Mapping and identification of new genes implicated in autosomal dominant ataxia
FCT - PTDC/SAU-GMG/098305/2008
FCT - PTDC/SAU-GMG/098305/2008
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
2010 - 2013 Cognition and synaptic function in calcium channel disease
FCT - PTDC/SAU-NEU/100701/2008
FCT - PTDC/SAU-NEU/100701/2008
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009 - 2012 Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PIC/IC/82897/2007
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009/01/01 - 2011/12/31 Mutational spectrum and improvement in laboratory techniques applied to molecular diagnosis of neurological disorders
info:eu-repo/grantAgreement/FCT/5876-PPCDTI/83232/PT
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Centro de Genética Médica Doutor Jacinto Magalhães, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Algarve Faculdade de Ciências e Tecnologia
Concluded
2011 - 2011 Development of ORPHANET – The Rare Disease Portal
na
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 European Commission
Cancelled
2010 - 2011 UnIGENe, IBMC
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2004 - 2010 EuroGentest: Genetic Testing in Europe
na
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 European Commission
Concluded
2005/04 - 2008/12 Molecular Genetics of Autosomal Dominant Neurodegenerative Diseases Characterized mainly by Ataxia
FCT - POCTI/SAU-MMO/56387/2004
FCT - POCTI/SAU-MMO/56387/2004
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Algarve Faculdade de Ciências e Tecnologia
Concluded
2005 - 2008 After the survey: looking for new loci and genes in hereditary ataxias and spastic paraplegias
FCT - PPCDT/SAU/59114/2008
FCT - PPCDT/SAU/59114/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2004 - 2008 Epigenetics and phenotypic variability in MJD and other hereditary ataxias
na
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação Calouste Gulbenkian
Concluded
2003 - 2008 SAFE - Special Non-Invasive Advances in Fetal and Neonatal Evaluation
na
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 European Commission
Concluded
2002 - 2005 Clinical, epidemiologic and genetic study of Rett syndrome in Portugal
FCT - Proj. 41416/2001
FCT - Proj. 41416/2001
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001/09/01 - 2005 Genetics and pathogenic mechanisms of dominant ataxias
FCT – Proj34517/99
FCT – Proj34517/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001/05 - 2005 Animal models for the study of Machado-Joseph disease
FCT – Proj 33759/99
FCT – Proj 33759/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001/04 - 2004 Genetic study of migraine
FCT – Proj 34390/99
FCT – Proj 34390/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001/01 - 2004 Modifiers of selective tissue iron overload and damage
FCT – Proj 33485/99
FCT – Proj 33485/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001 - 2004 Genetics of Friedreich, AOA and other common recessive ataxias in Portugal
FCT – Proj 34535/99
FCT – Proj 34535/99
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2000 - 2004 Survey of hereditary ataxias and spastic paraplegias in Portugal
FCT – Proj 32643/99
FCT – Proj 32643/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2000 - 2004 Hereditary spinocerebellar ataxias (including Machado-Joseph disease) in Portuguese and South Brazilian populations: a multidisciplinary and collaborative study
ICCTI – Proc. 423/CAPES
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 ICCTI

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
2000 - 2004 Hereditary spinocerebellar ataxias (including Machado-Joseph disease) in Portuguese and South Brazilian populations: a multidisciplinary and collaborative study
ICCTI – Proc. 423/CAPES
 ICCTI
1999 - 2003 UnIGENe, IBMC
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1999 - 2002 Molecular genetic analysis of the Machado-Joseph disease gene and protein
FLAD – Proc. 3.L/A.II/P.582/99
FLAD – Proc. 3.L/A.II/P.582/99
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação Luso-Americana
Concluded
1998 - 2002 Hereditary spinocebellar ataxias (including Machado-Joseph disease) in the Portuguese and southern Brazilian populations: a collaborative and multidisciplinary study
ICCTI/CAPES - Proc. 423/CAPES
Principal investigator
ICCTI, Portugal

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Brazil
1998 - 2002 Hereditary spinocebellar ataxias (including Machado-Joseph disease) in the Portuguese and southern Brazilian populations: a collaborative and multidisciplinary study
ICCTI/CAPES - Proc. 423/CAPES
 N/A
1999 - 2001 Genetics of dominant ataxias and hereditary spastic paraplegias
JNICT - PRAXIS/P/SAU/13226/98
JNICT - PRAXIS/P/SAU/13226/98
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1997 - 1999 UnIGENe, IBMC
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1997 - 1999 Genetics of MJD and other inherited ataxias
JNICT - PRAXIS/PSAU/P/SAU/84/96
JNICT - PRAXIS/PSAU/P/SAU/84/96
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1997 - 1999 Machado-Joseph Disease in Portugal: population dynamics and genetic epidemiology
JNICT - PRAXIS/PSAU/25/96
JNICT - PRAXIS/PSAU/25/96
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1996 - 1998 Programme for Predictive Testing and Genetic Counselling of MJD
JNICT - PECS/P/SAU/50/95
JNICT - PECS/P/SAU/50/95
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1996 - 1998 Population Screening of Inherited Ataxias in Portugal
JNICT - PECS/P/SAU/219/95
JNICT - PECS/P/SAU/219/95
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1997 - 1997 Extraordinary equipment grant for UnIGENe
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação Calouste Gulbenkian
Concluded
1996 - 1996 Sudden Infant Death Syndrome
na
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Associação Portuguesa para a Promoção da Saúde Pública

Instituto Nacional de Saúde Doutor Ricardo Jorge
Concluded
1994 - 1996 UnIGENe, IBMC
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 JNICT - Junta Nacional de Investigação Científica e Tecnológica
Concluded
1994 - 1996 Epidemiological and Genetic Study of the Sudden Infant Death Syndrome in Portugal
FLAD - Proc.3.L/A.11/P281/94
FLAD - Proc.3.L/A.11/P281/94
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação Luso-Americana
Concluded
1993 - 1996 Molecular genetics of Machado-Joseph disease
NIH - grant #31687
NIH - grant #31687
Researcher
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 National Institutes of Health
Concluded
1992 - 1994 UnIGENe (unit 11) - a Research Unit for Genetic and Epidemiological Research on Neurological Diseases
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1992 - 1994 Search for a genetic marker and chromosomal mapping of Machado-Joseph disease
INIC-INSERM; JNICT-INSERM/MRT and STRIDE (JNICT) - STRDA/C/SAU/300/92
INIC-INSERM; JNICT-INSERM/MRT and STRIDE (JNICT) - STRDA/C/SAU/300/92
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1991 - 1993 Cartographie génétique de la maladie de Machado-Joseph
AFM - FDA/GG/237
AFM - FDA/GG/237
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 AFM-Téléthon
Concluded
1987 - 1990 Statistical and quantitative genetic analysis of families with late-onset of hereditary amyloid neuropathy
FLAD - Proc.3.3/P.473
FLAD - Proc.3.3/P.473
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação Luso-Americana
Concluded
1986 - 1989 Programme for genetic counselling and prevention of familial amyloidotic polyneuropathy
JNICT – research contract no. 896.86.28
JNICT – research contract no. 896.86.28
Principal investigator
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
1984 - 1987 Machado-Joseph Disease
na
Researcher
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Instituto Nacional de Investigação Científica
Concluded
1984 - 1987 Clinical Cytogenetics
na
Researcher
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
 Instituto Nacional de Investigação Científica
Concluded
1973 - 1975 Chromosomal Aberrations Induced by Drugs
Projecto PMC4
Research Fellow
Universidade do Porto Faculdade de Medicina, Portugal
 Instituto de Alta Cultura
Concluded

Other

Designation Funders
2017 - 2020 Deciphering how epigenomic changes correlates with age-at-onset variation in familial amyloid polyneuropathy (FAP ATTRV30M)
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Amyloidosis Foundation
Ongoing
2017 - 2020 Deciphering the genetic network associated with age-at-onset variability of FAPATTRV30M: increasing awareness of genetic carriers
na
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Pfizer Inc
Ongoing
2014 - 2015 ORPHANET-Portugal
na
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 BioMarin Europe Ltd
Concluded
2013 - 2014 ORPHANET-Portugal
na
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Pfizer Biofarmacêutica Sociedade Unipessoal Lda
Concluded
Outputs

Publications

Book
  1. Sequeiros, Jorge. Universidade, Ciência e Sociedade: desafios e fronteiras éticas. Porto, Portugal: CEUP, Universidade do Porto. 2014.
    Published • Editor
  2. Sequeiros, Jorge. O Teste Preditivo da Doença de Machado-Joseph. Porto, Portugal: UnIGENe, IBMC. 1996.
    Published • Editor
Book chapter
  1. Martins, Sandra; Sequeiros, Jorge. "Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events". In Advances in Experimental Medicine and Biology, edited by Nóbrega, C.; Pereira de Almeida, Luis, 243-254. Springer International Publishing, 2018.
    10.1007/978-3-319-71779-1_12
  2. Matilla-Dueñas, A.; Corral-Juan, M.; Rodríguez-Palmero Seuma, A.; Vilas, D.; Ispierto, L.; Morais, S.; Sequeiros, J.; et al. "Rare neurodegenerative diseases: Clinical and genetic update". 443-496. 2017.
    Published • 10.1007/978-3-319-67144-4_25
  3. Sequeiros, Jorge. "Tecnologias de “Nova Geração” para Sequenciação de Genomas Completos: políticas públicas para testes genéticos relacionados com a saúde". In Bioética e Políticas Públicas, 81-104. Lisboa, Portugal: Conselho Nacional de Ética para as Ciênicas da Vida, 2014.
    Published
  4. Sequeiros, Jorge. "A CEUP e a Universidade". In Universidade, Ciência e Sociedade: desafios e fronteiras éticas, edited by Sequeiros, Jorge, 11-15. Porto, Portugal: CEUP, Universidade do Porto, 2014.
    Published
  5. Sequeiros, Jorge. "A Cientometria: uma ciência ou tirania dos números?". In Universidade, Ciência e Sociedade: desafios e fronteiras éticas, edited by Sequeiros, Jorge, 151-167. Porto, Portugal: CEUP, Universidade do Porto, 2014.
    Published
  6. Sequeiros, Jorge. "La Genética y los Derechos Humanos (prefácio)". In Genética y Derechos Humanos: Encuentros y Desencuentros, edited by Penchaszadeh, V.B., 23-28. Buenos Aires, Argentina: Paidós, 2012.
  7. Sequeiros, Jorge; Martindale, J.. "Improving Diagnosis of Spinocerebellar Ataxias". In Hospital Healthcare Europe, Camden Media, edited by Kaminsky, A. United Kingdom: HOPE - European Hospital and Healthcare Federation, 2011.
    Published
  8. Sequeiros, Jorge. "Regulating Genetic Testing: The Relevance of Appropriate Definitions". In Quality Issues in Clinical Genetic Services, edited by Kristoffersson U; Schmidtke J; Cassiman JJ, 23-32. Berlin: Springer Netherlands, 2010.
    10.1007/978-90-481-3919-4_3
  9. Sequeiros, Jorge. "A Necessidade de Avaliação dos Testes Genéticos: traduzir o conhecimento científico em aplicação clínica, de forma ética e responsável". In Investigação Biomédica: reflexões éticas, 337-373. Lisboa, Portugal: Gradiva, 2008.
    Published
  10. Sequeiros, Jorge. "Aconselhamento Genético e Testes Preditivos em Doenças da Vida Adulta. Cap.27". In Novos Desafios à Bioética, edited by Archer, L; Biscaia, J.; Osswald, W.; Renaud, M., 172-189-189. Porto, Portugal: Porto Editora, 2001.
    Published
  11. Sequeiros, Jorge. "Aconselhamento Genético e Teste Preditivo na Doença de Machado-Joseph. Cap. 11". In O Teste Preditivo da Doença de Machado-Joseph, edited by Sequeiros, Jorge, 97-112. UnIGENe, IBMC, 1996.
    Published
  12. Sequeiros, Jorge. "Genética Clássica e Genética Molecular da Doença de Machado-Joseph. Cap.5". In O Teste Preditivo da Doença de Machado-Joseph, edited by Sequeiros, Jorge, 33-48. Porto, Portugal: UnIGENe, IBMC, 1996.
    Published
  13. Sequeiros, Jorge. "História da Doença de Machado-Joseph. Cap. 1". In O Teste Preditivo da Doença de Machado-Joseph, edited by Sequeiros, Jorge, 3-13. Porto, Portugal: UnIGENe, IBMC, 1996.
    Published
  14. Sequeiros, Jorge. "Protocolo Geral do Programa Nacional de Teste Preditivo e Aconselhamento Genético da Doença de Machado-Joseph. Cap. 14". edited by Sequeiros, Jorge, 123-149. Porto, Portugal: UnIGENe, IBMC, 1996.
    Published
  15. Sequeiros, Jorge. "Conceitos de Genética Clínica". In Primo Centesimo Anno Ophthalmologicae Commemoratio 1896-1996, edited by Torres, J., 115-123. Porto, Portugal: Hospital Geral de Santo António, 1996.
    Published
  16. Sequeiros, Jorge. "Machado-Joseph disease - Epidemiology, genetics and genetic epidemiology, Chapt. 21". In Handbook of Cerebellar diseases, Chap. 21, edited by Lechtenberg, R., 345-351. New York, United States: Marcel Decker, 1993.
    Published
  17. Sequeiros, Jorge; Coutinho, P.; Sequeiros, J.. "Epidemiology and Clinical Aspects of Machado-Joseph Disease". In Hereditary Ataxias. Advances in Neurology, edited by Harding, Anita; Deufel, Thomas; Chamberlain, Susan, 139-153. New York, United States: Raven Press, 1993.
    Published
Journal article
  1. Carla Roma Oliveira; Liliana Sousa; Pedro Sa-Couto; Jorge Sequeiros; Álvaro Mendes. "Living with Transthyretin-Related Familial Amyloid Polyneuropathy—TTR-FAP: Generativity, Satisfaction with Life and Health Perception in Older Affected Individuals". Journal of Adult Development (2023): https://doi.org/10.1007/s10804-023-09459-2.
    10.1007/s10804-023-09459-2
  2. Joana Damásio; Clara Barbot; Rui Felgueiras; Ana Filipa Brandão; José Barros; Jorge Oliveira; Jorge Sequeiros. "Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST". Movement Disorders (2023): https://doi.org/10.1002/mds.29380.
    10.1002/mds.29380
  3. Hélio Afonso Ghizoni Teive; Léo Coutinho; Joaquim José Ferreira; Jorge Sequeiros. "Professor Paula Coutinho (1941-2022)". Arquivos de Neuro-Psiquiatria (2022): https://doi.org/10.1055/s-0042-1756170.
    10.1055/s-0042-1756170
  4. Mariana Santos; Joana Damásio; Susana Carmona; João Luís Neto; Nadia Dehghani; Leonor Correia Guedes; Clara Barbot; et al. "Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia". Cells 11 6 (2022): 981-981. https://doi.org/10.3390/cells11060981.
    10.3390/cells11060981
  5. Raposo, M.; Bettencourt, C.; Melo, A.R.V.; Ferreira, A.F.; Alonso, I.; Silva, P.; Vasconcelos, J.; et al. "Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing". Neurobiology of Disease 162 (2022): http://www.scopus.com/inward/record.url?eid=2-s2.0-85121006069&partnerID=MN8TOARS.
    10.1016/j.nbd.2021.105578
  6. Álvaro Mendes; Jorge Sequeiros; Angus J. Clarke; Mendes, Álvaro; Sequeiros, Jorge; Clarke, Angus. "Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases". Journal of Genetic Counseling (2021): https://doi.org/10.1002/jgc4.1415.
    In press • 10.1002/jgc4.1415
  7. Damásio, Joana; Santos, Diana; Sara Morais, S.; Brás, José; Guerreiro, Rita; Sardoeira, Ana; Cavaco, Sara; et al. "Congenital ataxia due to novel variant in ATP8A2". Clinical Genetics (2021): http://dx.doi.org/10.1111/cge.13954.
    In press • 10.1111/cge.13954
  8. Miguel Alves-Ferreira; Ana Azevedo; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos. "Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis". Amyloid (2021): https://doi.org/10.1080/13506129.2020.1857236.
    10.1080/13506129.2020.1857236
  9. Oliveira, Carla Roma; Mendes, Álvaro; Sequeiros, Jorge; Sousa, Liliana; Carla Roma Oliveira; Álvaro Mendes; Jorge Sequeiros; Liliana Sousa. "Role of older generations in the family’s adjustment to Huntington disease". J Community Genet 12 3 (2021): 469-477. https://doi.org/10.1007/s12687-021-00523-6.
    In press • 10.1007/s12687-021-00523-6
  10. Alves-Ferreira, M.; Quintas, M.; Sequeiros, J.; Sousa, A.; Pereira-Monteiro, J.; Alonso, I.; Neto, J.L.; Lemos, C.. "A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study". Journal of Headache and Pain 22 1 (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85107834568&partnerID=MN8TOARS.
    10.1186/s10194-021-01266-y
  11. Damásio, J.; Santos, M.; Samões, R.; Araújo, M.; Macedo, M.; Sardoeira, A.; Cavaco, S.; et al. "Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype". Clinical Genetics 100 6 (2021): 743-747. http://www.scopus.com/inward/record.url?eid=2-s2.0-85114363891&partnerID=MN8TOARS.
    10.1111/cge.14055
  12. Damásio, J.; Sardoeira, A.; Araújo, M.; Carvalho, I.; Sequeiros, J.; Barros, J.. "Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report". Cerebellum and Ataxias 8 1 (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85110232083&partnerID=MN8TOARS.
    10.1186/s40673-021-00140-6
  13. Paneque, M.; Carvalho, M.; Rodrigues, F.; Saraiva, J.; Leonardo, A.; Sousa, A.B.; Machado, V.; et al. "A new scale informed by the Reciprocal-Engagement Model for quality evaluation of genetic counselling by patients: Development and initial validation". European Journal of Medical Genetics 64 12 (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85118529553&partnerID=MN8TOARS.
    10.1016/j.ejmg.2021.104375
  14. Carla Roma Oliveira; Álvaro Mendes; Jorge Sequeiros; Liliana Sousa. "Management of information within Portuguese families with Huntington disease: a transgenerational process for putting the puzzle together". European Journal of Human Genetics (2020): https://doi.org/10.1038/s41431-020-0630-z.
    10.1038/s41431-020-0630-z
  15. Mariana Santos; Joana Damásio; Célia Kun-Rodrigues; Clara Barbot; Jorge Sequeiros; José Brás; Isabel Alonso; Rita Guerreiro. "Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype". Journal of Clinical Medicine 9 4 (2020): 1212-1212. https://doi.org/10.3390/jcm9041212.
    10.3390/jcm9041212
  16. Akçimen, Fulya; Martins, Sandra; Liao, Calwing; Bourassa, Cynthia V.; Catoire, Hélène; Nicholson, Garth A.; Riess, Olaf; et al. "Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease". Aging 12 6 (2020): 4742-4756. http://dx.doi.org/10.18632/aging.102825.
    Open access • 10.18632/aging.102825
  17. Roux, T.; Barbier, M.; Papin, M.; Davoine, C.-S.; Sayah, S.; Coarelli, G.; Charles, P.; et al. "Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)". Genetics in Medicine (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85097942898&partnerID=MN8TOARS.
    10.1038/s41436-020-01064-y
  18. Quintas, M.; Neto, J.L.; Sequeiros, J.; Sousa, A.; Pereira-Monteiro, J.; Lemos, C.; Alonso, I.. "Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility – A Case-Control Association Study". Headache 60 10 (2020): 2152-2165. http://www.scopus.com/inward/record.url?eid=2-s2.0-85091464142&partnerID=MN8TOARS.
    10.1111/head.13957
  19. Roux, T.; Barbier, M.; Papin, M.; Davoine, C.-S.; Sayah, S.; Coarelli, G.; Charles, P.; et al. "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment". Genetics in Medicine 22 11 (2020): 1851-1862. http://www.scopus.com/inward/record.url?eid=2-s2.0-85088563670&partnerID=MN8TOARS.
    10.1038/s41436-020-0899-x
  20. Mariana Santos; Sara Morais; Conceição Pereira; Jorge Sequeiros; Isabel Alonso. "Parkin truncating variants result in a loss-of-function phenotype". Scientific Reports 9 (2019): 1650. https://doi.org/10.1038/s41598-019-52534-6.
    10.1038/s41598-019-52534-6
  21. Reuven Sharony; Sandra Martins; Inês P. D. Costa; Roy Zaltzman; António Amorim; Jorge Sequeiros; Carlos R. Gordon. "Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor". European Journal of Human Genetics (2019): https://doi.org/10.1038/s41431-019-0449-7.
    10.1038/s41431-019-0449-7
  22. Álvaro Mendes; Milena Paneque; Angus Clarke; Jorge Sequeiros. "Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease". European Journal of Human Genetics 27 3 (2019): 353-359. https://doi.org/10.1038/s41431-018-0308-y.
    10.1038/s41431-018-0308-y
  23. Loureiro, J.R.; Oliveira, C.L.; Mota, C.; Castro, A.F.; Costa, C.; Loureiro, J.L.; Coutinho, P.; et al. "Mutational mechanism for DAB1 (ATTTC) n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution". Human Mutation 40 4 (2019): 404-412. http://www.scopus.com/inward/record.url?eid=2-s2.0-85059677730&partnerID=MN8TOARS.
    10.1002/humu.23704
  24. Dias, A.; Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C.. "C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients". Annals of Clinical and Translational Neurology 6 4 (2019): 748-754. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062767210&partnerID=MN8TOARS.
    10.1002/acn3.748
  25. Paneque, M.; Félix, J.; Mendes, Á.; Lemos, C.; Ledo, S.; Silva, J.; Sequeiros, J.. "Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal,Vinte anos de um protocolo de teste pré-sintomático para doenças neurológicas de início tardio em Portugal". Acta Medica Portuguesa 32 4 (2019): 295-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85065766376&partnerID=MN8TOARS.
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  26. Li, T.; Martins, S.; Peng, Y.; Wang, P.; Hou, X.; Chen, Z.; Wang, C.; et al. "Is the high frequency of machado-joseph disease in China due to new mutational orignis?". Frontiers in Genetics 10 FEB (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85065976257&partnerID=MN8TOARS.
    10.3389/fgene.2018.00740
  27. Costa, I.P.D.; Almeida, B.C.; Sequeiros, J.; Amorim, A.; Martins, S.. "A pipeline to assess disease-associated haplotypes in repeat expansion disorders: The example of MJD/SCA3 locus". Frontiers in Genetics 10 FEB (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85065839386&partnerID=MN8TOARS.
    10.3389/fgene.2019.00038
  28. Ding, D.; Wang, C.; Chen, Z.; Peng, H.; Li, K.; Zhou, X.; Peng, Y.; et al. "Polymorphisms in DNA methylation–related genes are linked to the phenotype of Machado-Joseph disease". Neurobiology of Aging 75 (2019): 225.e1-225.e8. http://www.scopus.com/inward/record.url?eid=2-s2.0-85058216488&partnerID=MN8TOARS.
    10.1016/j.neurobiolaging.2018.11.002
  29. Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Sousa, A.; Lemos, C.. "Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients". Annals of Neurology 85 2 (2019): 251-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-85060767805&partnerID=MN8TOARS.
    10.1002/ana.25409
  30. Susana Lêdo; Ana Ramires; Ângela Leite; Maria Alzira Pimenta Dinis; Jorge Sequeiros. "Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases". European Journal of Medical Genetics 61 10 (2018): 575-580. https://doi.org/10.1016/j.ejmg.2018.03.010.
    10.1016/j.ejmg.2018.03.010
  31. Mendes, Á.; Metcalfe, A.; Paneque, M.; Sousa, L.; Clarke, A.J.; Sequeiros, J.. "Communication of Information about Genetic Risks: Putting Families at the Center". Family Process 57 3 (2018): 836-846. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046602772&partnerID=MN8TOARS.
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  32. Zhou, X.; Wang, C.; Ding, D.; Chen, Z.; Peng, Y.; Peng, H.; Hou, X.; et al. "Analysis of (CAG)n expansion in ATXN1, ATXN2 and ATXN3 in Chinese patients with multiple system atrophy". Scientific Reports 8 1 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85042771070&partnerID=MN8TOARS.
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  33. Wang, C.; Chen, Z.; Peng, H.; Peng, Y.; Zhou, X.; Yang, H.; Wang, P.; et al. "Investigation on modulation of DNA repair pathways in Chinese MJD patients". Neurobiology of Aging 71 (2018): 267.e5-267.e6. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050136874&partnerID=MN8TOARS.
    10.1016/j.neurobiolaging.2018.06.024
  34. Santos, D.; Santos, M.J.; Alves-Ferreira, M.; Coelho, T.; Sequeiros, J.; Alonso, I.; Oliveira, P.; et al. "MtDNA copy number associated with age of onset in familial amyloid polyneuropathy". Journal of Neurology, Neurosurgery and Psychiatry 89 3 (2018): 300-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85042883375&partnerID=MN8TOARS.
    10.1136/jnnp-2017-316657
  35. Loureiro, J.R.; Oliveira, C.L.; Sequeiros, J.; Silveira, I.. "A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37". Journal of Human Genetics 63 9 (2018): 981-987. http://www.scopus.com/inward/record.url?eid=2-s2.0-85048335624&partnerID=MN8TOARS.
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  37. Lopes, A.; Rodrigues, C.; Fonseca, I.; Sousa, A.; Branco, M.; Coelho, T.; Sequeiros, J.; Freitas, P.. "Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?". Clinical Genetics 94 5 (2018): 401-408. http://www.scopus.com/inward/record.url?eid=2-s2.0-85052642687&partnerID=MN8TOARS.
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  39. Chen, Z.; Sequeiros, J.; Tang, B.; Jiang, H.. "Genetic modifiers of age-at-onset in polyglutamine diseases". Ageing Research Reviews 48 (2018): 99-108. http://www.scopus.com/inward/record.url?eid=2-s2.0-85055680181&partnerID=MN8TOARS.
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  40. Paneque, M.; Costa, C.; Lemos, C.; Alves-Ferreira, M.; Sequeiros, J.; Lemos, M.S.. "Proposal of a portuguese tool for quality assessment of genetic counselling: A new tool for healthcare professionals,Proposta de uma escala portuguesa para a avaliação da qualidade do aconselhamento genético: Uma nova ferramenta para os profissionais da saúde". Acta Medica Portuguesa 31 6 (2018): 321-328. http://www.scopus.com/inward/record.url?eid=2-s2.0-85049525440&partnerID=MN8TOARS.
    10.20344/amp.9997
  41. Lopes, A.; Fonseca, I.; Sousa, A.; Rodrigues, C.; Branco, M.; Coelho, T.; Sequeiros, J.; Freitas, P.. "Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease". Amyloid 25 1 (2018): 26-36. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044538507&partnerID=MN8TOARS.
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  228. Maciel, P.; Lopes-Cendes, I.; Kish, S.; Sequeiros, J.; Rouleau, G.A.. "Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients [1]". American Journal of Human Genetics 60 4 (1997): 993-996. http://www.scopus.com/inward/record.url?eid=2-s2.0-0030975726&partnerID=MN8TOARS.
  229. Silveira, I.; Lopes-Cendes; Kish, S.; Maciel, P.; Gaspar, C.; Coutinho, P.; Botez, M.I.; et al. "Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients". Neurology 46 1 (1996): 214-218. http://www.scopus.com/inward/record.url?eid=2-s2.0-9344245162&partnerID=MN8TOARS.
    10.1212/WNL.46.1.214
  230. Lopes-Cendes, I.; Maciel, P.; Kish, S.; Gaspar, C.; Robitaille, Y.; Brent Clark, H.; Koeppen, A.H.; et al. "Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease". Annals of Neurology 40 2 (1996): 199-206. http://www.scopus.com/inward/record.url?eid=2-s2.0-9444262436&partnerID=MN8TOARS.
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  231. Lopes-Cendes, I.; Silveira, I.; Maciel, P.; Gaspar, C.; Radvany, J.; Chitayat, D.; Babul, R.; et al. "Limits of clinical assessment in the accurate diagnosis of Machado- Joseph disease". Archives of Neurology 53 11 (1996): 1168-1174. http://www.scopus.com/inward/record.url?eid=2-s2.0-10344262014&partnerID=MN8TOARS.
  232. DeStefano, A.L.; Cupples, L.A.; Maciel, P.; Gaspar, C.; Radvany, J.; Dawson, D.M.; Sudarsky, L.; et al. "A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease". American Journal of Human Genetics 59 1 (1996): 119-127. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029890963&partnerID=MN8TOARS.
  233. Gaspar, C.; Lopes-Cendes, I.; DeStefano, A.L.; Maciel, P.; Silveira, I.; Coutinho, P.; MacLeod, P.; et al. "Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins". Human Genetics 98 5 (1996): 620-624. http://www.scopus.com/inward/record.url?eid=2-s2.0-10544251065&partnerID=MN8TOARS.
    10.1007/s004390050270
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  235. DeStefano, A.L.; Farrer, L.A.; Maciel, P.; Gaspar, C.; Rouleau, G.A.; Coutinho, P.; Sequeiros, J.. "Gender equality in Machado–Joseph disease". Nature Genetics 11 2 (1995): 118-119. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029391198&partnerID=MN8TOARS.
    10.1038/ng1095-118b
  236. Sousa, A.; Coelho, T.; Barros, J.; Sequeiros, J.. "Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (North of Portugal)". American Journal of Medical Genetics - Neuropsychiatric Genetics 60 6 (1995): 512-521. http://www.scopus.com/inward/record.url?eid=2-s2.0-0029562263&partnerID=MN8TOARS.
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  238. Silveira, I.; Manaia, A.; Melki, J.; Magarino, C.; Lunkes, A.; Hernandez, A.; Gispert, S.; et al. "Machado-Joseph disease is genetically different from Holguin dominant ataxia (SCA2)". Genomics 17 3 (1993): 556-559. http://www.scopus.com/inward/record.url?eid=2-s2.0-0027180041&partnerID=MN8TOARS.
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  239. Sequeiros, J.; Mascarenhas Saraiva, M.J.. "Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR(Met30) mutation in hereditary amyloid neuropathy - Type I (Portuguese, Andrade)". American Journal of Medical Genetics 27 2 (1987): 345-357. http://www.scopus.com/inward/record.url?eid=2-s2.0-0023254244&partnerID=MN8TOARS.
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  240. Suite, N.D.A.; Sequeiros, J.; Mckhann, G.M.; Livingstone, I.R.. "Machado-joseph disease in a sicilian-american family". Journal of Neurogenetics 3 3 (1986): 177-182. http://www.scopus.com/inward/record.url?eid=2-s2.0-0022478625&partnerID=MN8TOARS.
    10.3109/01677068609106847
  241. Sequeiros, J.; Suite, N.D.. "Spinopontine atrophy disputed as a separate entity: The first description of machado-joseph disease". Neurology 36 10 (1986): http://www.scopus.com/inward/record.url?eid=2-s2.0-0022796451&partnerID=MN8TOARS.
  242. Sequeiros, J.; Sack, G.H.. "Infection and Prematurity as the Cause of Linear Skin Atrophy, Alopecia, Anonychia, and Tongue Lesions?". Archives of Dermatology 121 11 (1985): 1379-1380. http://www.scopus.com/inward/record.url?eid=2-s2.0-0022152438&partnerID=MN8TOARS.
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  243. Sequeiros, J.; Sack Jr., G.H.. "Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: A 'new' syndrome?". American Journal of Medical Genetics 21 4 (1985): 669-680. http://www.scopus.com/inward/record.url?eid=2-s2.0-0021965729&partnerID=MN8TOARS.
    10.1002/ajmg.1320210408
  244. Coutinho, P.; Sequeiros, J.. "Clinical, genetic and pathologic aspects of Machado-Joseph disease | ASPECTS CLINIQUES, GENETIQUES ET PATHOLOGIQUES DE LA MALADIE DE MACHADO-JOSEPH". Journal de Genetique Humaine 29 3 (1981): 203-209. http://www.scopus.com/inward/record.url?eid=2-s2.0-0019616599&partnerID=MN8TOARS.
Journal issue
  1. Sequeiros, Jorge; Gibbon, Sahra; Clarke, Angus. "Genetics and Ethics in Latin America". Journal of Community Genetics 6 3 (2015):
    Published • Coeditor
Thesis / Dissertation
  1. Sequeiros, António Jorge dos Santos Pereira de. "Análise genética da variação fenotípica na doença de Machado-Joseph". PhD, 1989. http://hdl.handle.net/10216/10357.
  2. Sequeiros, Jorge. "A apneia do sono infantil e o síndrome da morte súbita e inexplicada do lactente (MSIL) - Estudo de uma possível componente genética (Prova Complementar de Doutoramento)". PhD, Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, 1989.
Activities

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2018 - 2024 Heredity ataxias: cerebellar and non-cerebellar symptoms and incapaity
Supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015 - 2024 Decoding micro RNAs role in Machado-Joseph disease
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - 2023 Between Generations: intra and inter-generational transmission of health promotions behaviors in families with history of a genetic disease
Co-supervisor
 Gerontologia e Geriatria (PhD)
Universidade de Aveiro, Portugal
2014 - 2018 Percepção das dinâmicas familiares e vinculação na polineuropatia amiloidótica familiar
Co-supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2018 Unravelling new spastic paraplegia genes and their functions through next generation sequencing and functional characterization
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2017 Communication of information about genetic risk within the family: using evidence to develop family-centred services in genetic counselling and general healthcare (supervisor, with Angus Clarke and Liliana Sousa; BPD, FCT SFRH/BPD/88647/2012)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2010 - 2016 The genetic counselling process in late-onset neurological diseases: defining and measuring endpoints to assess its quality and improve its impact, in a multicentric study (supervisor, with Heather Skirton; BPD, FCT SFRH/BPD/66484/2009)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2009 - 2015 Short, medium and long-term psychological impact of predictive testing in late-onset neurological diseases
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009 - 2014 Protein aggregate formation, dynamics and clearance in neurodegenerative disorders: parkin and PKCgamma mutants as a model (supervisor; Ciência 2008)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2009 - 2013 Search for Genetic Modifiers and Epigenetic Changes in Huntington disease
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2012 Molecular Diagnosis of Frontotemporal Dementia in Portuguese Patients
Supervisor
 Biomedicina Molecular (Master)
Universidade de Aveiro, Portugal
2008 - 2012 Hereditary Spastic Paraplegias: clinical and genetic study
Supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2007 - 2012 Molecular mechanisms of instability at CAG repeat loci (supervisor, with António Amorim and Guy A. Rouleau; BPD FCT SFRH/BPD/29225/2006)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2010 - 2011 Genetics and Public Health: the challenge of incorporating genetic tests in healthcare (supervisor; BPD FAPESP 2011)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2009 - 2010 Machado-Joseph disease: a search for genetic modifiers (supervisor; IBMC fellowship)
Supervisor
 Pós-doutoramento
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2009 - 2010 Definitions of genetic testing among legal jurisdictions (supervisor; EuroGentest, Unit 3 post-doctoral fellowship)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2006 - 2010 Diversidade Genética nos Principais Grupos Populacionais em Angola
Co-supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2006 - 2010 Movement Disorders Caused by Triplet Repeat Expansions: genetics and pathogenic mechanisms
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - 2010 Polineuropatia Amiloidótica Familiar, Imortalidade Simbólica e Ansiedade Perante a Morte
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2008 - 2009 Quality assessment and improvement of the genetic counselling process in late-onset neurodegenerative diseases (supervisor, with Heather Skirton; IBMC fellowship)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2008 - 2009 Role of neurotransmitter release impairment and endoplasmic reticulum stress in neurodegenerative disease models (supervisor, with Carlos B. Duarte; IBMC fellowship)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2005 - 2009 Genetic Studies of Ectopic Ossification and Calcification
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - 2009 Genetic and Epidemiological Study of Migraine
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2007 - 2008 Genetic and functional studies of Huntington disease (HD) and HD-like disorders (HDL) (supervisor; IBMC fellowship)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2007 - 2008 Frequência de portadores para a ataxia de Friedreich na população Portuguesa: considerações éticas e legais sobre o papel da medicina preditiva na prevenção de doenças genéticas
Supervisor
 Ciências Forenses (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - 2008 Genetics in the Identification of Molecular Pathogenic Mechanisms of Familial Migraine
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - 2008 Impacto Psicosocial de Pruebas Genéticas Predictivas en Enfermedades Neurodegenerativas de Inicio Tardío
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2005 - 2008 Study of the Homologue of the Machado-joseph Disease Gene in Mus Musculus
Co-supervisor
 Ciências da Saúde (PhD)
Universidade do Minho, Portugal
2004 - 2008 Ataxia with Oculomotor Apraxia as a Model for the Study of Recessive Ataxias
Co-supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 - 2008 Genetic Pathways in the Pathogenic Mechanism of Familial Migraine
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2008 Epidemiological and Genetic Study of Rett Syndrome in Portugal
Supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2004 - 2007 Pathogenesis of Rett Syndrome and Study of the Role of MECP2 Protein in Neuronal Function
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2003 - 2007 Evolutionary and Epidemiological Genetics of Machado-joseph Disease
Co-supervisor
 Biologia (PhD)
Universidade do Porto Faculdade de Ciências, Portugal
2003 - 2007 Identification and Characterization of Ataxin-3 Molecular Interactors
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2002 - 2006 Molecular Characterization and Pathogenic Mechanism Involved in Dominant Ataxias
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2002 - 2006 Molecular Genetics and Pathogenic Mechanism of Hereditary Spastic Paraplegia
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2001 - 2006 Determinantes Psicosociais da Adesão ao Teste Pré-Sintomático em Doenças Neurológicas Hereditárias de Aparecimento Tardio
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2002 - 2005 Molecular Genetics of Machado-Joseph Dissease: Study Models in C. Elegans
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000 - 2004 A Nefropatia na Polineuropatia Amiloidótica Familiar de Tipo Português (ttr V30m)
Supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000 - 2004 Nephropathy in Familial Amyloid in Polineuropathy Portuguese Type
Supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2000 - 2004 Friedrich ataxia: molecular characterization of Portuguese patients, and insights into the function of frataxin, using mouse models
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1999 - 2003 Molecular Genetics of Ataxia with Ocular Apraxia: mapping and cloning the AOA genes
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 2002 Psico-sociologia da Doença de Machado-Joseph: estudos sobre doentes e seus cuidadores
Co-supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 2002 Altered Brain System Development and Early Postnatal Respiratory Pathology: a mice model for the Sudden Infant Death Syndrome
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1998 - 2001 Trinucleotide Expansions and Iron Metabolism in Ataxias and Other Neurodegenerative Diseases (IBMC, Univ. Porto and CHUM, Univ. Montréal; supervisor, with Massimo Pandolfo)
Supervisor
 Pós-doutoramento (Other)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1997 - 2000 Molecular Genetics and Cell Biology of Machado-Joseph Disease
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1997 - 1999 Factores de Risco da Doença Periodontal - um contributo para o seu estudo
Supervisor
 Periodontologia (Master)
Cooperativa de Ensino Superior Politécnico e Universitário, Portugal
1994 - 1998 Molecular Genetics Studies of Machado-Joseph Disease- contribution to understand the molecular bases of the phenotypic variability of the disease and meiotic and mitotic instability of the mutation
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1994 - 1997 Gene Mapping of the Machado-Joseph Gene
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1993 - 1997 Chromosomal Mapping of Machado-Joseph Disease and Genetic Heterogeneity of Dominant Ataxias
Supervisor
 Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1988 - 1992 Machado-Joseph Disease - tentative of clinical definition
Co-supervisor
 Ciências Médicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Distinctions

Award

2004 Estímulo à Excelência FCT
Fundação para a Ciência e a Tecnologia, Portugal
1990 Jacinto de Magalhães Honnor prize (Medical Genetics)
Instituto de Genética Médica Dr. Jacinto Magalhães, Portugal
1989 Ricardo Jorge de Saúde Pública (Public Health)
Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
1989 Jacinto de Magalhães (Medical Genetics)
Instituto de Genética Médica Dr. Jacinto Magalhães, Portugal
1986 Prof. Doutor Fonseca e Castro (Medical Genetics)
Instituto de Genética Médica Dr. Jacinto Magalhães, Portugal

Title

2021 Emeritus Professor
Universidade do Porto, Portugal