António Jorge dos Santos Pereira de Sequeiros

PhD from Instituto de Ciências Biomédicas Abel Salazar (1990), Univ. Porto. MD from Fac. Medicina, Univ. Porto, with specialty in Medical Genetics, after post-doctoral fellowship at Johns Hopkins Medical Hospital (Baltimore, MD).CV FCT (Portugal): https://sig.fct.pt/fctsig/cv/presentation.PT/overview.aspxScopus Author ID: 7005499969 (http://orcid.org/0000-0002-9846-1037).Obtained his MD from Fac. Medicina, Univ. Porto (1975), and a PhD in Genetics, ICBAS, Univ. Porto (1990). Fellow in Medical Genetics (1982-85) at Johns Hopkins Hosp., Baltimore, MD, USA; specialist in Internal Medicine and in Medical Genetics (1987). Currently, Full Professor of Medical Genetics, teaching basic, medical and clinical genetics to medical students and medical genetics to biochemistry master students; Director and teacher of the MSc on Genetic Counselling, ICBAS, Univ. Porto (accredited by the EBMG). Research group leader of UnIGENe and Director of CGPP (Centre for Predictive and Preventive Genetics), for clinical and laboratory genetic services (accredited by IPAC, ISO 15189) at IBMC, Univ. Porto. Supervised or co-supervised 28 PhD students theses successfully completed.President of the Ethics Com mission, Univ. Porto; member of the National Bioethics Council (CNECV); consultant (Ethics), at the Directorate-General of Health (DGS). President, National Human Genetics Commission (DGS). National Coordinator of ORPHANET-Portugal.Founder and first President (1999-2009) of the College of Medical Genetics, at the Portuguese Medical Association. Secretary-general (and interim president), Ataxia Research Group, World Federation of Neurology (1993-97). President and first board member of the Portuguese Society of Human Genetics (1997-99). Board member of the ESHG (2008-2013); member of the Public and Professional Policy Committee (2002-2013) and of the Education Committee (2008-2013) of ESHG, where he acted for several years as jury for the DNA Day assay contest. Alternate member of EUCERD, EC (2010-13). Former Member of the EBMG (European Board of Medical Genetics); and Natl. Commission for Clinical Research (CEIC), 2014.Organizer for EMQN of the EQA scheme on spinocerebellar ataxias (SCA) (2004-2014). Member of steering groups at OECD on Human Genetic Research Databases and Biobanks, on Pharmacogenetics and on Quality Assurance and Proficiency Testing Schemes for Molecular Genetic Testing in OECD countries (2001-2010); ad-hoc expert group on genetic testing at the European Commission. Working group on Direct-to-Consumer Genetic Testing , of EASAC (European Academies Science Advisory Council) and FEAM (Federation of European Academies of Medicine) (2011-12).Participant, unit leader and member of steering group of EuroGentest harmonizing genetic testing in Europe (NoE, FP6) and participant in EuroGentest2. Member of several research networks on Rare Diseases, including, Euro-HD (EHDN), HD-MAPS, SPATAX, RIBERMOV, Safe, Euro-Wilson. He is member of the scientific committees of several lay associations, including the Joseph Diseases Foundation (USA, 1982 on), EUROATAXIA (2002-06), MJD Foundation (Australia, 2009- ); honorary member and scientific committee member of the Portuguese associations for familial amyloid neuropathy (2001- ), hereditary ataxias (2008- ) and Huntington disease (2001- ). Reviewer for FP7 projects ( ethics screening panel), EC; of projects for AFM/INSERM (neurodegenerative diseases); Inst. Carlos III (IRDiC); Fund. La Marató TV3 - Catalan Ag. Health Res. Eval. (2014); and ADI (Agência Portuguesa de Inovação). He is the author or co-author of close to 300 full scientific papers, including nearly 200 original articles in refereed international journals. Member of the editorial board of Clinical Genetics and of the Journal of Community Genetics; editor for Special Issue Genetics and Ethics in Latin-America for J Commun Genet.

Possui doutorado em Ciências Biomédicas pelo Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto (1990). É licenciado na área de Medicina (Fac. Medicina, Univ. Porto), com especialidade em Genética Médica, após 'fellowship' no Johns Hopkins Medical Hospital, (Baltimore, MD).CV FCT (Portugal): https://sig.fct.pt/fctsig/cv/presentation.PT/overview.aspxScopus Author ID: 7005499969 (http://orcid.org/0000-0002-9846-1037).Obtained his MD from Fac. Medicina, Univ. Porto (1975), and a PhD in Genetics, ICBAS, Univ. Porto (1990). Fellow in Medical Genetics (1982-85) at Johns Hopkins Hosp., Baltimore, MD, USA; specialist in Internal Medicine and in Medical Genetics (1987). Currently, Full Professor of Medical Genetics, teaching basic, medical and clinical genetics to medical students and medical genetics to biochemistry master students; Director and teacher of the MSc on Genetic Counselling, ICBAS, Univ. Porto (accredited by the EBMG). Research group leader of UnIGENe and Director of CGPP (Centre for Predictive and Preventive Genetics), for clinical and laboratory genetic services (accredited by IPAC, ISO 15189) at IBMC, Univ. Porto. Supervised or co-supervised 28 PhD students theses successfully completed.President of the Ethics Commission, Univ. Porto; member of the National Bioethics Council (CNECV); consultant (Ethics), at the Directorate-General of Health (DGS). President, National Human Genetics Commission (DGS). National Coordinator of ORPHANET-Portugal.Founder and first President (1999-2009) of the College of Medical Genetics, at the Portuguese Medical Association. Secretary-general (and interim president), Ataxia Research Group, World Federation of Neurology (1993-97). President and first board member of the Portuguese Society of Human Genetics (1997-99). Board member of the ESHG (2008-2013); member of the Public and Professional Policy Committee (2002-2013) and of the Education Committee (2008-2013) of ESHG, where he acted for several years as jury for the DNA Day assay contest. Alternate member of EUCERD, EC (2010-13). Former Member of the EBMG (European Board of Medical Genetics); and Natl. Commission for Clinical Research (CEIC), 2014.Organizer for EMQN of the EQA scheme on spinocerebellar ataxias (SCA) (2004-2014). Member of steering groups at OECD on Human Genetic Research Databases and Biobanks, on Pharmacogenetics and on Quality Assurance and Proficiency Testing Schemes for Molecular Genetic Testing in OECD countries (2001-2010); ad-hoc expert group on genetic testing at the European Commission. Working group on Direct-to-Consumer Genetic Testing , of EASAC (European Academies Science Advisory Council) and FEAM (Federation of European Academies of Medicine) (2011-12).Participant, unit leader and member of steering group of EuroGentest harmonizing genetic testing in Europe (NoE, FP6) and participant in EuroGentest2. Member of several research networks on Rare Diseases, including, Euro-HD (EHDN), HD-MAPS, SPATAX, RIBERMOV, Safe, Euro-Wilson. He is member of the scientific committees of several lay associations, including the Joseph Diseases Foundation (USA, 1982 on), EUROATAXIA (2002-06), MJD Foundation (Australia, 2009- ); honorary member and scientific committee member of the Portuguese associations for familial amyloid neuropathy (2001- ), hereditary ataxias (2008- ) and Huntington disease (2001- ). Reviewer for FP7 projects ( ethics screening panel), EC; of projects for AFM/INSERM (neurodegenerative diseases); Inst. Carlos III (IRDiC); Fund. La Marató TV3 - Catalan Ag. Health Res. Eval. (2014); and ADI (Agência Portuguesa de Inovação). He is the author or co-author of close to 300 full scientific papers, including nearly 200 original articles in refereed international journals. Member of the editorial board of Clinical Genetics and of the Journal of Community Genetics; editor for Special Issue Genetics and Ethics in Latin-America for J Commun Genet.