Jorge Sequeiros

JORGE SEQUEIROS, MD, PhD MD, Fac. Medicina, UP (1975); PhD (Genetics), ICBAS, UP (1990). Fellow in Medical Genetics (Fulbrighter, 1982-85), Johns Hopkins Hosp., Baltimore, MD, USA. Specialist in Internal Medicine and in Medical Genetics (1987). CURRENTLY: Emeritus Professor, UP (2021- ). Invited Retired Full Professor, ICBAS, UP (2020- ). Group leader, UnIGENe (Unit for Genetics and Epidemiological Research on Neurological Diseases) (1992- ); Board Directors, CGPP (Centre for Predictive and Preventive Genetics, 2022- ), for clinical and laboratory genetic services, IBMC, i3S, UP. FORMERLY: Full Professor of Medical Genetics (2004-20), teaching basic, medical and clinical genetics to medical students and medical genetics to biochemistry MSc students. Director, MSc on Genetic Counselling (EBMG accredited), ICBAS, UP; Director, CGPP (2019-2022). Member (2008-14); President (2011-14), Ethics Commission, UP. Member, National Bioethics Council (CNECV, 2004-15) and CEIC (2014-15). Consultant (ethics), Dir.-General Health (DGS). Founder, first President (1999-2009), College of Medical Genetics, Portuguese Medical Association. Founder, first Board, Portuguese Human Genetics Society (1996-99). President, National Human Genetics Commission (DGS, 2009-14). National Coordinator, ORPHANET-PT (2008-15). Secretary-general (and interim president), Ataxia Research Group, World Federation of Neurology (1993-97). Board member, European Society of Human Genetics (ESHG) (2008-13); member, Public and Professional Policy Committee (2002-13) and Education Committee (2008-13) of ESHG, jury for the DNA Day assay contest (2008-13). Executive Board, European Board of Medical Genetics (EBMG, 2012-13). Organizer (EMQN), EQA scheme on spinocerebellar ataxias (2004-12). Member, working groups at OECD (2001-2010), namely: 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 at the EC; alternate member, EUCERD, EC (2010-14). Working group on Direct-to-Consumer Genetic Testing, EASAC/FEAM (European Academies Science Advisory Council / Federation of European Academies of Medicine, 2011-12). Steering group and unit 3 leader, EuroGentest – harmonizing genetic testing in Europe (NoE, FP6/7, 2004-13). Research networks incl.: Euro-HD/EHDN (2004- ), SPATAX (2004- ), HD-MAPS (2008- ), RIBERMOV (2010-13), SCA Global (2018- ). Scientific committees of lay associations: International Joseph Diseases’ Foundation, USA (1981-93), EUROATAXIA (2002-06), MJD Foundation, Australia (2009- ); RD-Portugal (2022- ). Honorary member, scientific committee 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 Foundation Australia; UNU-BIOLAC (United Nations Univ. Program for Biotechnology in Latin-America and the Caribbean). Supervised/co-supervised 32 PhD students’ theses successfully completed (plus 3 ongoing); and 11 post-docs. Editorial boards: Clinical Genetics (1999- ), Journal of Community Genetics (2010- ) and Journal of Xiangya Medicine (2017- ). Author/co-author of around 300 full scientific papers (h-index:47; -7,500 citations), incl. over 236 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]