Where Ideas grow
Jorge Sequeiros
Group leader

Jorge Sequeiros obtained his MD from the Fac. Medicine, Univ. Porto (1975) and a PhD in Genetics from ICBAS, Univ. Porto (1990). He undertook a position as post-doctoral Fellow in Medical Genetics (1982-1985) at Johns Hopkins Hosp., Baltimore, MD, before becoming a specialist in Internal Medicine and in Medical Genetics (1987).

He is Full Professor of Medical Genetics and Director of the MSc on Genetic Counselling, ICBAS, Univ. Porto, and research group leader of UnIGENe and Director of the Centre for Predictive and Preventive Genetics (www.cgpp.eu) for clinical and laboratory genetic services at IBMC, i3S, Univ. Porto.

Formerly, he was a member of the National Council of Bioethics, President of the Ethics Commission of Univ. Porto, national Coordinator of ORPHANET-PT, EUCERD representative, President of the National Medical Genetics Commission, and an active participant in a wide range of committees, including the Education Committee and the Public and Professional Policy Committee (ESHG), as well as member of working groups at EASAC-FEAM, OECD and the European Commission; he was also Board Member of the ESHG and of the EBMG.

He has held numerous positions including: founder and first-President (1999-2009) of the College of Medical Genetics, at the Portuguese Medical Association; founder and Board of the Portuguese Human Genetics Society (1996-1999); and Secretary General (and Interim President) of the Ataxia Research Group, World Federation of Neurology (1993-1997).

He has an interest in rare neurological diseases and has been a member of several research networks. He is an honorary member and scientific committee member of the Portuguese associations for familial amyloid neuropathy (since 2001), ataxias (since 2008) and Huntington disease (since 2001).

He is a member of the editorial boards for Clinical Genetics, Journal of Community Genetics and Journal of Xiangya Medicine. He is the author or co-author of more than 300 full scientific papers, including over 200 original articles published in international peer-reviewed journals [orcid.org/0000-0002-9846-1037], and the editor of two books and of a special issue for the Journal of Community Genetics.

Selected Publications

Seixas A.I., Loureiro J.R., Costa C., Ordóñez-Ugalde A., Marcelino H., Oliveira C.L., Loureiro J.L., Dhingra A., Brandão E., Cruz V.T., Timóteo A., Quintáns B., Rouleau G.A., Rizzu P., Carracedo Á., Bessa J., Heutink P., Sequeiros J., Sobrido M.J., Coutinho P., Silveira I.,
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. American Journal of Human Genetics101(1):87-103, 2017. [Journal: Article] [CI: 27] [IF: 8,9]
DOI: 10.1016/j.ajhg.2017.06.007 SCOPUS: 85021415706.


Mendes Á., Sousa L., Sequeiros J., Clarke A.,
Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science and Medicine182:73-80, 2017. [Journal: Article] [CI: 6] [IF: 3]
DOI: 10.1016/j.socscimed.2017.04.026 SCOPUS: 85018469092.


Alves-Ferreira M., Coelho T., Santos D., Sequeiros J., Alonso I., Sousa A., Lemos C.,
A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal. Molecular Neurobiology55(5):3676-3683, 2018. [Journal: Article] [CI: 5] [IF: 4,6]
DOI: 10.1007/s12035-017-0593-4 SCOPUS: 85019539928.


Santos D., Coelho T., Alves-Ferreira M., Sequeiros J., Mendonça D., Alonso I., Lemos C., Sousa A.,
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M). European Journal of Human Genetics24(5):756-760, 2016. [Journal: Article] [CI: 23] [IF: 4,3]
DOI: 10.1038/ejhg.2015.180 SCOPUS: 84939553337.


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 Neuro8(2):, 2016. [Journal: Article] [CI: 5] [IF: 3]
DOI: 10.1177/1759091416637025 SCOPUS: 84961625995.


Bras J., Alonso I., Barbot C., Costa M.M., Darwent L., Orme T., Sequeiros J., Hardy J., Coutinho P., Guerreiro R.,
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics96(3):474-479, 2015. [Journal: Article] [CI: 61] [IF: 10,8]
DOI: 10.1016/j.ajhg.2015.01.005 SCOPUS: 84924246336.


Paneque M., Sequeiros J., Skirton H.,
Quality issues concerning genetic counselling for presymptomatic testing: A European Delphi study. European Journal of Human Genetics23(11):1468-1472, 2015. [Journal: Article] [CI: 6] [IF: 4,6]
DOI: 10.1038/ejhg.2015.23 SCOPUS: 84944353845.


Lemos C., Coelho T., Alves-Ferreira M., Martins-Da-Silva A., Sequeiros J., Mendonça D., Sousa A.,
Overcoming artefact: Anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M. Journal of Neurology Neurosurgery and Psychiatry85(3):326-330, 2014. [Journal: Article] [CI: 33] [IF: 6,8]
DOI: 10.1136/jnnp-2013-305383 SCOPUS: 84896709791.


Martins S., Pearson C.E., Coutinho P., Provost S., Amorim A., Dubé M.P., Sequeiros J., Rouleau G.A.,
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.. Human Genetics133(10):1311-1318, 2014. [Journal: Article] [CI: 22] [IF: 4,8]
DOI: 10.1007/s00439-014-1467-8 SCOPUS: 84910139166.


Coutinho P., Ruano L., Loureiro J.L., Cruz V.T., Barros J., Tuna A., Barbot C., Guimarães J., Alonso I., Silveira I., Sequeiros J., Neves J.M., Serrano P., Silva M.C.,
Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study. JAMA Neurology70(6):746-755, 2013. [Journal: Article] [CI: 55] [IF: 7]
DOI: 10.1001/jamaneurol.2013.1707 SCOPUS: 84878770734.